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Organizations, Conditions/Diseases, and Causes Served by PEER

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Currently, PEER is the registry platform of choice for more than 15,000 individual participants and 45 organizations and initiatives, representing over 50 conditions and diseases. In addition to serving organizations and initiatives with a focus on a specific condition or disease, PEER also serves communities working towards a specific cause: for instance, implementation of best practices in maternal and child health, or evaluation of the health impacts of fracking.

Below is a complete list of conditions, diseases, and causes served by PEER. Click the link for a specific condition or cause to jump down the page and learn more about the relevant registry. If you or someone you know are affected by one or more of the conditions, diseases, or causes listed, we encourage you to help advance research and understanding by participating in the registry. The link to the registry will be listed in the description for each registry (when active).

Conditions and Diseases

ADHD
Alopecia Areata
Alström syndrome
Arylsulfatase A deficiency
Asthma
Autoimmune diseases
Autosomal recessive polycystic kidney disease
Austin disease (also known as multiple sulfatase deficiency and mucosulfatidosis)
Basal cell nevus syndrome (also known as Gorlin syndrome, Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome)
Breast cancer (hereditary)
Breast cancer (inflammatory)
Celiac disease
Chiari malformation
Chronic fatigue syndrome
Cogan-type oculomotor apraxia
Congenital fibrinogen deficiency
Congenital hepatic fibrosis
Dekaban-Arima syndrome
Dyskeratosis congenita
Familial pulmonary fibrosis
Fibrolamellar hepatocellular carcinoma
Food Allergies
Functional neurological disorder
Gastroparesis
Gaucher disease
Gorlin syndrome (also known as basal cell nevus syndrome, Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome)
Gorlin-Goltz syndrome (also known as basal cell nevus syndrome, Gorlin syndrome, nevoid basal cell carcinoma syndrome)
Hemophilia and other bleeding disorders
Hepatitis
Hereditary breast and ovarian cancer
Inflammatory breast cancer
Jacobs syndrome
Joubert syndrome
Juvenile nephronophthisis
Klinefelter syndrome and associated conditions
Leigh syndrome
Lynch syndrome
Merkel-Gruber syndrome
Metachromatic leukodystrophy
Mowat-Wilson syndrome
Mitochondrial diseases
Mucosulfatidosis (also known as Austin Disease and multiple sulfatase deficiency)
Myalgic encephalomyelitis
Myeloproliferative neoplasms
Multiple sulfatase deficiency (also known as Austin Disease and mucosulfatidosis)
Nevoid basal cell carcinoma syndrome (also known as basal cell nevus syndrome, Gorlin syndrome, Gorlin-Goltz syndrome)
Obesity
Pancreatic cancer
Pseudoxanthoma elasticum
Saposin B deficiency
Senior-Loken syndrome
Sex chromosome aneuploidy
Sickle cell disease
Stomach cancer
Syringomyelia
Telomere biology disorder/syndrome
Trisomy X
Turner syndrome
Undiagnosed conditions
Varadi-Papp syndrome
Von Willebrand disease

Causes

Health impacts of fracking in Southwest Pennsylvania
Quality assessment of midwives for pre-, during, and post-natal care

Active Registries

We define active registries as registries currently recruiting participants.

AliveAndKickn: Hereditary Cancer Research Champions (HEROIC) Registry

AliveAndKickn aims to improve the lives of individuals and families affected by Lynch Syndrome and its associated cancers through research, education, and screenings. David and Robin Dubin established the non-profit in 2012 after being personally affected by Lynch syndrome. Lynch syndrome is a heredity disorder caused by a genetic mutation, which increases the likelihood of developing aggressive cancers like colorectal cancer.

David and Robin Dubin partnered with Genetic Alliance to launch a national Lynch Syndrome registry using PEER: the HEROIC Registry. Currently, clinicians lack effective screening tools and treatments for Lynch Syndrome. Through the HEROIC Registry the Dubins will connect clinicians, researchers, and individuals so that all players can gain a better understanding of how the disease develops, and create tools to diagnose and treat individuals as early as possible.

Website: www.aliveandkickn.org
HEROIC Registry: www.aliveandkickn.org/heroic-registry

Alström Syndrome International (ASI): Alström Syndrome International Registry

The mission of Alström Syndrome International is to provide support, information, and coordination world-wide to families and professionals in order to treat and cure Alström Syndrome. Alström Syndrome is a rare autosomal recessive genetic disorder characterized by symptoms such as cone-rod dystrophy, hearing loss, and childhood truncal obesity. It is caused by mutations in ALMS1, and the ALMS1 protein is found in centrosomes, basal bodies, and cytosol of all tissues affected by the disease.

ASI has been collecting data about the Syndrome since 1995, and currently houses the largest data repository related to the Syndrome. The organization aims to leverage PEER to transcribe its data, which exists on paper, into an online environment to improve current methods of recognition, determining correct diagnoses, and developing earlier treatments. Furthermore, by using PEER, the organization’s goal is to leverage the research interests among physicians, medical clinics, and researchers by collaborating for research in a centralized, online registry platform.

In addition, ASI established the registry as a member of the Community Engaged Network for All (CENA). CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. You can learn more about CENA, and how they’re working towards this vision, by visiting http://www.geneticalliance.org/cena.

Website: www.alstrom.org
Alström Syndrome International Registry: www.alstrom.org/alstrom-registry

American College of Nurse Midwives (ACNM): Having A Baby

ACNM is a 61-year-old professional association representing certified nurse-midwives and certified midwives in the United Sates. The goal of ACNM is to advance the well-being of women and infants by setting the standard for midwifery excellence. The organization advances this standard by engaging in research, administering continuing education programs, and developing partnerships with organizations, federal agencies, and Congress members.

The association will sponsor a PEER registry to analyze the impact of various initiatives to reduce the number of cesarean births. Long-term, ACNM hopes to protect the well-being of women and infants, knowing that cesareans have both short- and long- term risks and consequences including surgical complications, admissions to neonatal intensive care, and high costs incurred by vaginal deliveries. ACNM’s long-term goal is to understand the experience of women with maternity related care by collecting health data, and with better understanding, adapt its maternity care to a variety of reproductive health conditions.

Website: www.midwife.org
Having a Baby Registry: www.ourmomentoftruth.com/Having-a-Baby

Asthma and Allergy Foundation of America (AAFA): Food Allergy Patient and Family Registry

Founded in 1953 and celebrating over 60 years of service, AAFA is the oldest and largest nonprofit patient organization dedicated to improving the quality of life for people with asthma, allergies and related conditions through education, advocacy and research. AAFA provides practical information, community-based services, support and referrals through a national network of chapters and educational support groups and offers the oldest, most extensive online support community for families raising children with food allergies.

In September, 2016 AAFA launched the Food Allergy Patient and Family Registry using PEER, to collect, manage, and analyze data from and about people with food allergies, and advance research through sharing of patient information. AAFA is also working to develop a Patient and Family Asthma Registry using PEER, though this is not yet launched.

AAFA is also a member of the Community Engaged Network for All (CENA). CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. You can learn more about CENA, and how they’re working towards this vision, by visiting www.geneticalliance.org/cena.

Website: www.aafa.org and www.kidswithfoodallergies.org
Food Allergy Patient and Family Registry: www.research.kidswithfoodallergies.org

Autoimmune Registry, Inc. (ARI): Autoimmune Registry

ARI’s mission has three core components: aggregating and presenting data on all autoimmune diseases; aggregating data from non-profits representing individual autoimmune diseases to help individuals with multiple diseases and centralize recruitment access for clinical trials; and collecting data on multiple autoimmune diseases who would not traditionally fit into single-disease registries.

ARI established a PEER registry to serve as the central quality data collection platform to better understand the impact of autoimmune diseases, and bolster public awareness and research funding. Today, doctors and the public view each autoimmune disease as a rarity, resulting in under-diagnosis, misdiagnosis, and a lack of research funding. Yet similar to cancer, the multitude of various autoimmune diseases have a common disease mechanism. Therefore, ARI is using PEER to facilitate greater research, understanding, and analysis.

Website: www.autoimmuneregistry.org
Autoimmune Registry: www.autoimmuneregistry.org/join-our-registry-1

Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis Alliance: ARPKD/CHF Patient Registry

The ARPKD/CHF Alliance was established in 2001 to educate, advocate, support, and advance research to improve the lives of those affected with autosomal recessive polycystic kidney disorder (ARPKD) and congenital hepatic fibrosis (CHF). ARKD and CHF is a rare genetic disorder resulting in kidney failure and liver abnormalities such as fibrosis.

To better understand the nature of the disorder and how participants affected respond to clinical treatments, the Alliance has employed PEER to collect health data among individuals living with ARPKD and CHF. The Alliance aims to identify key data findings and use those findings to support legislation that will increase awareness and funding for ARPKD and CHF research.

Website: www.arpkdchf.org/
ARPKD/CHF Patient Registry: www.arpkdchf.org/patientregistry

AXYS (formerly KS&A): AXYS AXYON Registry

The Association for X and Y Variations (formerly known as KS&A) is an advocacy, education, and support organization for individuals with X and Y chromosome variations, or extra X &Y chromosomes. Also known as sex chromosome aneuploidy (SCA), these variations lead to comorbid conditions such as 47, XXY syndrome, Jacobs syndrome, Klinefelter syndrome, sex chromosome aneuploidy, Trisomy X, and the approximately 20 additional variations involving additional X and/or Y chromosomes and mosaicism. It is estimated that 1:500 people who are born world-wide have one of these conditions.

By serving as a PEER sponsor, AXYS’s aim is to attract researchers focused on one of the many comorbid conditions that affect those with X and Y chromosome variations. Currently, there is a 30-page list of comorbid condition associated with SCA, and AXYS aims to address the research and understanding gaps by partnering with researchers through the sharing of de-identifiable data.

AXYS also founded the AXYS AXYON Registry as a member of the Community Engaged Network for All (CENA). CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. You can learn more about CENA, and how they’re working towards this vision, by visiting www.geneticalliance.org/cena.

Website: www.genetic.org
AXYS AXYON Registry: www.genetic.org/registry

Basal Cell Carcinoma Nevus Syndrome (BCCNS) Life Support Network: GENERATIONS: Registry 4 Life

The BCCNS Life Support Network is a non-profit patient advocacy community dedicated to providing support services, counseling, and healthcare advice to children, adolescents and adults diagnosed with basal cell carcinoma nevus syndrome. This rare disease is also known as Gorlin syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma syndrome.

The Network launched a PEER registry in order to advance its goals to unite affected individuals and families for moral support, to partner with medical professionals familiar with manifestations of the syndrome, to advance critical research through member enrollment in clinical trials, to create and expand investigations by administering surveys, developing registries and exploring natural histories, to raise awareness for BCCNS, to expand outreach, and to improve quality of life for its members and their families.

Website: www.bccns.org
GENERATIONS: Registry 4 Life: www.bccns.org/explore-research/bccns-registry-bio-bank

Celiac Disease Foundation (CDF): iCureCeliac

Celiac disease is a serious genetic autoimmune disorder where the ingestion of gluten leads to damage in the small intestine. It is estimated to affect 1 in 100 people worldwide. An estimated two and one-half million Americans are undiagnosed and are at risk for long-term health complications, including: cancer, heart disease, infertility, and osteoporosis, among others. Celiac disease is hereditary, meaning that it runs in families. People with a first-degree relative with celiac disease (parent, child, sibling) have a 1 in 10 risk of developing celiac disease themselves. The only treatment available for celiac disease is a strict, gluten-free diet.

CDF’s launched iCureCeliac, a PEER registry, to accomplish the Foundation’s main research objectives, which include: increasing diagnosis rate of Celiac Disease, identifying alternative treatments to the gluten-free diet, identifying long-term implications of Celiac Disease, and finding a cure. Since launching the registry, the organization has been able to analyze disease patterns and aims to answer questions most important to patients.

CDF founded the iCureCeliac registry as a member of the Community Engaged Network for All (CENA). CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. You can learn more about CENA, and how they’re working towards this vision, by visiting www.geneticalliance.org/cena.

Website: www.celiac.org
iCureCeliac: www.celiac.org/celiac-disease/research/icureceliac/icureceliac-pprn

Dyskeratosis Congenita Outreach (DCO): Dyskeratosis Congenita Outreach Registry

DCO serves individuals with dyskeratosis congentica, a genetic disorder estimated to occur in one in one million people that can be inherited or develop spontaneously in utero. The progressive disease affects numerous systems, but primarily targets those with rapid cell replacement. In addition to serving individuals with dyskeratosis congenita, DCO serves familial pulmonary fibrosis, inherited bone marrow failure, and telomere biology disorder and syndrome.

Due to the rarity of the disease, DCO established a registry to centrally house health data related to DCO and accomplish several objectives: using this information, they aim to improve the organization’s current methods of patient support, connect families with similar issues and situations, categorize different forms of DC, track the success rates of different facilities and protocols, identify links between DC and other disease, clarify distinctions between DC and other diseases, and identify symptom patterns.

DCO also founded the Dyskeratosis Congenita Outreach Registry as a member of the Community Engaged Network for All (CENA). CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. You can learn more about CENA, and how they’re working towards this vision, by visiting www.geneticalliance.org/cena.

Website: www.dcoutreach.org
Dyskeratosis Congenita Outreach Registry: www.dcoutreach.org/solve-the-puzzle

FND Hope: Functional Neurological Disorder Scientific Registry

FND Hope was established in 2012 to unite people with Function Neurological Disorder (FND) and Conversion Disorder (CD). Currently little is known about the disorder, and the term FND and CD is used to signify the variety of symptoms similar to other neurological conditions such as multiple sclerosis or Parkinson’s disease. The organization’s purpose is to advance research for the disorder, and advocate for those who have had life-altering experiences due to debilitating function symptoms posed by FND and CD. In addition, the organization’s work includes dispelling biased stereotypes and ill-conceived myths concerning these diseases.

FND Hope is using PEER to advance research, understanding of the disorder, and development of effective treatment by connecting patients, caregivers, and researchers on one platform. The organization also looks forward to providing registry participants with the opportunity for participants to manage their data using PEER’s data sharing and privacy features.

Website: www.fndhope.org
FND Scientific Registry: www.fndhope.org/registry

Gastroparesis Association for Treatments and Cures (G-PACT): Gastroparesis Association for Treatments and Cures Registry

G-PACT was established out of a need for patient support and advocacy for individuals and families affected by digestive tract paralyses such as gastroparesis, chronic intestinal pseudo obstruction, and colonic inertia. Since 2001, G-PACT has provided educational resources, multiple support programs, patient advocacy programs, and other forms of aid to support the organization’s community of affected individuals.

In the past, G-PACT has participated in the FDA’s Patient Focused Drug Development program based on the testimony of one of G-PACT’s volunteers. As a result, the organization has used PEER to collect data regarding treatments for gastroparesis, and engage the G-PACT community of nearly 15,000 patients, caregivers, and parents, and 120 of the top gastroenterologists in the nation. The current registry builds on this success, and collects additional information from members of the GPACT community regarding the challenges of living with gastroparesis.

Website: www.g-pact.org
The GPACT Registry: www.g-pact.org/registry

Hemophilia Federation of America, Inc. (HFA): Hemophilia Federation of America Community Registry

HFA is a patient education, services, and advocacy organization serving individuals and families affected by bleeding disorders such as hemophilia, von Willebrand Disease, congenital fibrinogen deficiency, and platelet defects. HFA’s vision is to mitigate the barriers to treatment options and improved quality of life. Since the organization’s incorporation in 1994, HFA has addressed the evolving needs of the bleeding disorders community in partnership with other national and state organizations, who make frequently speak on Capitol Hill on behalf of the bleeding disorders community.

In 2015, HFA initiated a research program to conduct community centered, community-focused, and community-driven research. The organization is using PEER to achieve its research goals by collecting health data, and using the data to identify current needs and improve health outcomes, quality of life, and care for the HFA community. The organization is also leveraging PEER to bolster engagement of underserved populations, learn about each community’s specific needs, and develop better programming and advocacy initiatives on the community’s behalf.

Website: www.hemophiliafed.org
HFA Community Registry: Coming Soon

Hepatitis Foundation International (HFI): Hepatitis Foundation International Registry

HFI is a 501(c) 3 organization established in 1994 working to eradicate chronic hepatitis and other blood borne diseases for more than 550 million people globally. HFI is dedicated to increasing and promoting health and wellness; reducing the incidence of preventable liver-related chronic diseases, and lifestyles that negatively impact the liver. Some of these diseases and issues include: obesity, diabetes, hepatitis, substance abuse, HIV/AIDS, cardiovascular disease, harm reduction and fatty/liver cancer. HFI reaches well over 6 million patients and health care professionals annually through public and private partnerships.

HFI currently houses untapped data from multiple sources including the National HepFI Hepatitis Hotline, which has been in operation for more than 20 years. Through the hotline, HFI collects disease data, demographic information, and provides referrals to community-based services and resources. By sponsoring a PEER registry, HFI strives to unlock the potential of data to improve patient outcomes, and to bolster data collection, analysis, and use.

Furthermore, HFI founded the Hepatitis Foundation International Registry as a member of the Community Engaged Network for All (CENA). CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. You can learn more about CENA, and how they’re working towards this vision, by visiting www.geneticalliance.org/cena.

Website: www.hepatitisfoundation.org
The HFI Registry: www.hepatitisfoundation.org/RESEARCH/Patient_Registry.html

Inflammatory Breast Cancer Research Foundation (IBCRF): No Lump Required Registry

IBCRF, a grass-roots advocacy organization incorporated in 1999, works to improve the lives of those touched by inflammatory breast cancer (IBC). The Foundation does this by tenaciously fostering innovative IBC research, creatively educating stakeholders of all kinds and tireless advocating for both current IBC patients and survivors. The work is carried out by an extensive network of volunteers, a comprehensive educational website, and work in the breast cancer community and beyond. Launching a PEER registry has helped advance IBCRF’s research goals. While research remains the Foundation’s primary focus they are also actively engaged in education, patient support, and development of clinical trials.

IBCRF also founded its registry, No Lump Required, as a member of the Community Engaged Network for All (CENA). CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. You can learn more about CENA, and how they’re working towards this vision, by visiting http://www.geneticalliance.org/cena.

Website: www.ibcresearch.org
No Lump Required: www.ibcresearch.org/no-lump-required

Joubert Syndrome and Related Disorders Foundation (JSRDF): JS-LIFE

Joubert syndrome and its related disorders are rare genetic disorders characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing pattern and cognitive impairment. Joubert syndrome is one of a growing group of disorders called “ciliopathies,” caused by dysfunction of a part of the cell called the cilium. In addition to Joubert syndrome, the Foundation serves cogan-type oculomotor apraxia, Varadi-Papp syndrome, Dekaban-Arima syndrome, juvenile nephronophthsis, Meckel-Gruber syndrome, and Senior-Lokan syndrome.

JSRDF has pioneered the collection of pertinent de-identified socio-demographic, clinical, and other health-related data to advance research about Joubert Syndrome. JSRDF also stored and collected biological information as a member of the Genetic Alliance Biobank from 2004-2012. Therefore, by establishing a renewed patient registry using PEER, JSRDF has enabled more efficient and comprehensive collection of various data and information that has been made available to a variety of stakeholders seeking to conduct or support research related to JSRDF and its serving conditions.

JSRDF founded JS-IFE as a member of the Community Engaged Network for All (CENA). CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. You can learn more about CENA, and how they’re working towards this vision, by visiting www.geneticalliance.org/cena.

Website: www.jsrdf.org
JS-LIFE: www.jsrdf.org/JSLIFE

Metachromatic Leukodystrophy Foundation (MLD): Metachromatic Leukodystrophy Foundation Patient-Powered Registry

The mission of MLD Foundation is to serve families throughout the world affected by MLD. Translated from doctor talk, metachromatic leukodystrophy means: meta - change, chromatic - color, leuko - white matter, dystrophy - degeneration. MLD's name therefore comes from degeneration in the white matter of the brain and Central Nervous System (CNS), which has a color on staining that should not be there. Staining was how the disease was observed before the advent of the MRI. The MLD Foundation also serves Arylsulfatase A deficiency, Austin disease, mucosulfatidosis, multiple sulfatase deficiency, Saposin B deficiency.

Currently, data related to MLD is sparse and silo-ed. By owning and managing a registry, the Foundation wants to unify the community around preparing and supporting research. Since the Foundation’s work is also international, its goal is to combine US data with that of data from international families through PEER, which features data collection using international metrics. Other goals include enhancing current methods of recruitment for clinical trials, determining and resolving differences in diagnostics and prevalence by country and region, and serving as an active analyzer of the registry data.

MLD Foundation founded the MLD Patient-Powered Registry as a member of the Community Engaged Network for All (CENA). CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. You can learn more about CENA, and how they’re working towards this vision, by visiting www.geneticalliance.org/cena.

Website: www.mldfoundation.org
MLD Patient Powered Registry: www.mldfoundation.org/registry.php

Mowat-Wilson Syndrome Foundation

The Mowat-Wilson Syndrome Foundation is committed to enhancing the lives of people affected by Mowat-Wilson Syndrome by providing family support, raising awareness, and supporting research and education. Mowat-Wilson Syndrome is associated with cognitive impairment with multiple health defects caused by a genetic mutation or deletion on the ZEB2 gene. Information about the syndrome was only discovered recently in 1998, and there is much more to be learned about the physical, behavioral, and developmental issues associated with the Syndrome. Therefore, since its founding in 2013, the Foundation has sought to build greater understanding and support for those affected and their loved ones. One of the ways the Foundation has carried out its goals is by launching a PEER registry to generate better understanding about the Syndrome. The registry is currently advised by Dr. Margaret Adam, MD, who is a member of the Mowat-Wilson Syndrome Foundation Medical Advisory Board and serves as the primary scientific advisor for the MWS Patient Registry.

Website: www.mowat-wilson.org
MWS Patient Registry: www.mowat-wilson.org/registry-live

Pancreatic Cancer Action Network (PanCan): Pancreatic Cancer Action Network Patient Registry

PanCan is a global leader in the fight against pancreatic cancer with a bold and comprehensive approach to Wage Hope through research, patient services, advocacy, and community action. Founded in 1999, the Network’s urgent mission is to improve outcomes for patients battling the disease today and double patient survival by 2020. According to the American Cancer Society, pancreatic cancer kills more Americans than breast cancer and has a five-year survival of just 9 percent.

PanCAN was an early adopter of PEER, and is currently using a registry to further understanding of Pancreatic Cancer and Wage Hope for the Network’s community. They have also expanded and enhanced participants’ experiences and contributions to PEER by operating a hotline to assist participants with their surveys.

Website: www.pancan.org
Pancreatic Cancer Action Network Patient Registry: https://www.pancan.org/patient-registry/patient-registry.html

People Against Leigh Syndrome (PALS): People Against Leigh Syndrome Registry

PALS was formed in 2013 by the friends of William Martin, a Houstonian diagnosed with a progressive and fatal form of a mitochondrial disease called Leigh syndrome. PALS seeks to build awareness of this unknown disease and support efforts that would lead to discover a treatment or a cure.

Currently, PALS is working in partnership with the Children’s Memorial Hermann, UT Mitochondrial Center of Excellence and the Memorial Hermann Foundation. Medical and scientific information on mitochondrial disease and Leigh syndrome is used with permission from the United Mitochondrial Disease Foundation.

Website: www.peopleagainstleighs.org
PALS Registry:

PXE International: PXE & LIFE

Pseudoxanthoma elasticum, or PXE, is a rare inherited disorder that causes select mineralization of tissue due to mutated genes expressed in the liver. This can result in changes in the skin, eyes, cardiovascular system, and gastrointestinal system. Therefore, the Foundation works to promote research and support individuals affected by PXE. The Foundation is also the leading organization that works on behalf of individuals and their families to improve quality of life through advancing research, educating clinicians, and supporting individuals.

PXE International initiates, funds, and conducts research centered on people affected by PXE, along with providing support for individuals and families affected by PXE. The Foundation has been collecting health data since 1995, therefore, has a vast wealth of data, and best practices in engagement, recruitment, and engagement practices, which they have disseminated to support other advocacy groups. Setting up a PEER registry has enabled the Foundation to collect and house PXE-related data for easier access and greater collaboration with various stakeholders.

PXE International founded PXE & Life (originally PXE HELP) as a member of the Community Engaged Network for All (CENA). CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. You can learn more about CENA, and how they’re working towards this vision, by visiting www.geneticalliance.org/cena.

Website: www.pxe.org
PXE & Life: www.pxe.org/registry

Southwest Pennsylvania Environmental Health Project (EHP): Environmental Health Project Shale Oil & Gas Development Heath Effects Registry

EHP strives to respond to the needs of individuals and communities to access accurate, timely, and trust-worthy public health information and health services associated with natural gas extraction. Natural gas extraction currently poses public health problems due to a lack of regulation within the industry. Although research has identified the source of emissions, resident exposures, and reported health consequences, further research is necessary to understand the content, concentration, and volume of emissions and the connections between emissions and reported health effects.

Through PEER, the organization aims to use participant feedback to define and determine the scope of the problem. The organization has already been contacted by 350 individuals requesting health evaluations, guidance, and advice, and aims to collect their information in a centralized platform. Through the registry, the organization strives to identify other individuals with health and exposure concerns related to natural gas extraction, track exposures and illnesses over time, provide information and guidance to at-risk individuals, efficiently connect researchers to EHP’s data, and disseminate any findings.

Website: www.environmentalhealthproject.org
EHP Shale Oil & Gas Development Health Effects Registry: www.environmentalhealthproject.org/health-effect-registry

The Fibrolamellar Registry (TFR): The Fibrolamellar Registry

The Fibrolamellar Registry (which is the name of both the organization and its registry) is a non-profit organization owned and operated by individuals affected with a liver cancer called fibrolamellar hepatocellular carcinoma (FHC). Since its launch in 2012, The Fibrolamellar Registry has sought to make scientific information publicly accessible and provide an online forum for patients, family members, and caregivers.

TFR recently established a database of health information from fibrolamellar patients using PEER in order to attract researchers and advance understanding of the cancer. Due to the rarity of FHC, it is essential to aggregate the available data to make effective research possible. The nature of FHC also makes it essential to link individual health data with physical tissue samples, which The Fibrolamellar Registry aims to accomplish by linking PEER data with records from the Fibrolamellar Tissue Repository.

The organization also founded The Fibrolamellar Registry as a member of the Community Engaged Network for All (CENA). CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. You can learn more about CENA, and how they’re working towards this vision, by visiting www.geneticalliance.org/cena.

Website: www.fibroregistry.org
The Fibrolamellar Registry Survey: www.fibroregistry.org/survey

Turner Syndrome Society of the United States (TSSUS): Turner Syndrome Research Registry

TSSUS is the largest grassroots advocacy group for Turner syndrome. The organization was founded in 1987 by a few women living with this condition, and today creates awareness, promotes research, and provides support for all people touched by Turner syndrome. The condition, which is found only in women, is caused by the absence of all or part of one of the sex chromosomes in proportion to the body’s cells. To name a few, the condition results in short stature, early loss of ovarian function, kidney problems, or other interrelated challenges such as autoimmune disorders.

The organization created a registry with PEER to meet its 2015-2016 goal to expand knowledge of Turner syndrome through research by establishing a Turner syndrome registry. The registry will provide the foundation for understanding the genetic basis of condition susceptibility caused by deficiencies of the second sex chromosome, and will also be used to generate evidence-based recommendations for women living with Turner syndrome. The initiative is timely, as there is an especially strong need for evidence-based recommendations and research programs for this population.

Website: www.turnersyndrome.org
Turner Syndrome Research Registry: www.turnersyndrome.org/ts-registry-love

United Mitochondrial Disease Foundation (UMDF): Mitochondrial Disease Community Registry

UMDF’s mission is to promote research and education for the diagnosis, treatment, and cure of mitochondrial disorders, and to provide support to affected individuals and families. Since 1996, UMDF has provided more than $13 million grants to support research that may lead to a less invasive diagnosis and ultimately, a cure. By sponsoring a PEER registry, the Foundation aims to continue driving current research efforts.

Furthermore, UMDF is involved in providing patient and family support by creating networking opportunities with others affected by mitochondrial diseases, and providing information and communication through fundraisers, educational programs, and advocacy efforts.

Website: www.umdf.org
Mitochondrial Disease Community Registry: www.umdf.org/registry

Non-Active Registries

We define non-active registries as registries which are not currently recruiting participants.

Chiari & Syringomyelia Foundation (CSF)

The Chiari & Syringomyelia Foundation was established in 2007 with the goal to raise awareness and find a cure for Chiari malformation (CM), syringomyelia (SM), and its related disorders. CM is when part of the skull is abnormally small or misshapen, and 20% of individuals with CM are also affected by SM, a disorder where a cyst forms in the spinal cord. CSF is currently the only organization serving patients with CM, SM, and its related disorders.

CSF is creating a PEER registry to research treatment success rates. The registry will collect information about the pathophysiology, diagnosis, treatment options, and health outcomes for these disorders. Currently, a nationally representative data set does not exist to allow for further understanding of CM, SM, and its related disorders, which CSF aims to resolve using PEER.

Website: http://csfinfo.org/
The Chiari & Syringomyelia Foundation registry is not yet live. Sign up here to receive an update.

Free the Data: Free the Data Registry

Free the Data is a grassroots campaign managed by Genetic Alliance with oversight from an expert steering committee. The movement encourages stakeholders to share anonymous genetic variant data with public databases, with a particular focus on the BRCA1/2 genes (mutations in which are associated with hereditary breast and ovarian cancer). The Free the Data registry provides individual men and women with the tools to safely share their anonymous genetic testing results these databases – and if desired, to share additional information about their health and diagnosis with researchers of their choosing. This is made possible by PEER’s privacy settings.

While Free the Data is not actively recruiting at this time due to financial constraints, we do encourage individuals who would like to share genetic testing data and other health information with researchers to visit our sister project, GenomeConnect. GenomeConnect, which is a part of the ClinVar initiative, seeks to improve our understanding of genetic variants’ impact on human health not only for the BRCA1/2 genes, but for other genes as well. Sharing genetic variant data and associated health information is an important step forward in understanding the ways in which our genes impact our health.

Website: www.free-the-data.org
Free the Data is not actively recruiting participants at this time.

Genetic Alliance Patient-Focused Drug Development (PFDD) Initiative

As part of PFDD, Genetic Alliance partnered with seven support groups and disease advocacy organizations to elicit community members’ thoughts and experiences regarding the benefit-risk balance of treatment options, the severity of their conditions, and their unmet medical needs.

One of the conditions within the Initiative was sickle cell disease. Genetic Alliance partnered with four sickle cell disease groups including the North Alabama Sickle Cell Foundation, Inc., Sickle Cell Disease Association of America Southern CT, The William E. Proudford Sickle Cell Fund, Inc., and Citizens for Quality Sickle Cell Care, Inc. These groups leveraged PEER to gather the perspectives of their communities on the benefits and risks of medicines that are most relevant and important to them for the FDA.

Website: www.geneticalliance.org/programs/biotrust/peer/pfdd
We are not actively recruiting participants to the Patient-Focused Drug Development project at this time.

Genetic Alliance Patient Preference Project with the Center for Devices and Radiological Health at the Food and Drug Administration (FDA)

Genetic Alliance is partnering with the Center for Devices and Radiological Health at the FDA to conduct a pilot project to assess whether PEER can be used to collect patient preference data around specific interventions. With input from the Duke Clinical Research Institute and the Obesity Action Coalition, we have developed a survey to capture data regarding surgical interventions for weight loss, and the amount of risk that different patient communities will tolerate from such devices given a certain amount of benefit the device produces for patients. Incorporating and understanding this type of patient preference information into regulatory decision-making is increasingly a vital part of the FDA’s process.

Website: geneticalliance.org/programs/biotrust/peer
The registry is not yet live, and we are not actively recruiting participants for the Patient Preference Project at this time.

Hope for Stomach Cancer (StoCAN)

StoCAN was founded in 2013. It primarily provides programs for those affected by stomach cancer to take action steps and overcome each phase of the disease. In addition, the organization promotes early detection and prevention of stomach cancer to general and medical communities. Stomach cancer is rare, affecting approximately 26,000 people annually, but is often discovered in the later stages. As a result, diagnosed individuals have a less than 14% chance of survival, or those who do live are left without a vital organ.

By launching a PEER registry, the organization aims to generate research for prevention, treatment, and post-treatment. Currently, pharmaceutical companies and lead investigators have a difficult time recruiting qualified candidates for clinical studies, and a national standard medical protocol for treatment and specific chemotherapy does not exist for this cancer. Through the registry, StoCAN will address this research gap and generate greater hope for individuals and families impacted by stomach cancer.

Website: www.hopeforstomachcancer.org
The StoCAN registry is not yet live. Sign up here to receive an update.

MPN Research Foundation

The MPN Research Foundation was founded by patients, for patients in 1999, and is now the catalyst for research funding in pursuit of new treatments – and eventually a cure – for myeloproliferative neoplasms (MPNs). Currently, the Foundation has successfully generated more than $11 million for MPN research. In addition to research, the Foundation also educates and empowers patients, family members, doctors, and researchers within the community. Together, the Foundation is committed to change the prognosis for people living with an MPN.

Website:
The myMPN registry is not yet live. Sign up here to receive an update.

National Alopecia Areata Foundation (NAAF)

NAAF is the largest, most influential, and most representative foundation related to alopecia areata. Founded in 1981, the foundation was created to support research for alopecia areata, support individuals and families affected, spread public awareness about the disease, and advocate for FDA approval and greater insurance coverage. Alopecia reata is a common autoimmune disease where the immune system attacks hair follicles, resulting in hair loss on the scalp and other body sites.

The foundation operates the Alopecia Areata Registry as part of the Biobank and Clinical Trials Network with 150,000 community participants. The Foundation’s goal is to transfer its data to PEER to consolidate its recruitment, data collection, and research efforts. After re-establishing consent with all participants, the foundation strives to register 1,500 new participants from diverse ethnic backgrounds to engage its patient partners in research for alopecia areata and other autoimmune diseases.

Website: www.naaf.org
The NAAF registry is not yet live. Sign up here to receive an update.

National Gaucher Foundation (NGF): National Gaucher Foundation Registry

NGF’s mission is to provide education, outreach, and awareness for the Gaucher disease community, to meet the increasing needs of individuals with Gaucher and their families, and to promote research towards alternative treatments and cures for Gaucher disease. Gaucher disease, pronounced go-SHAY, is an inherited condition that causes fatty lipid deposits to build up in certain organs and bones. The disease can affect anyone, regardless of ethnicity, age, or gender. Doctors often overlook or misdiagnose the warning signs and symptoms of Gaucher disease, making a registry to catalog these signs and symptoms all the more important.

NGF launched a registry to further incorporate the patient perspective into development of treatments and cures as a member of the Community Engaged Network for All (CENA). You can learn more about CENA by visiting www.geneticalliance.org/cena. Unfortunately, the organization has since had to stop sponsoring the registry due to financial constraints. Genetic Alliance now continues to host the Gaucher registry to support those members of the NGF community who joined as part of CENA. This means that existing participants may return to view their data. New participants may also still enroll, but please keep in mind that no research is actively taking place at this time.

Website: www.gaucherdisease.org
Gaucher Registry:http://www.geneticalliance.org/programs/biotrust/CENA/gaucher

Solve ME/CFS Initiative

The Solve ME/CFS Initiative works to serve those affected by Myalgic Encephalomyelitis (ME) and Chronic Fatigue Syndrome (CFS) by helping to understand, diagnose, and treat the disease. The majority of those with ME/CFS remain misdiagnosed, underdiagnosed, or undiagnosed due to a lack of understanding in diagnosis and treatments. The organization’s goal is thus to implement basic and translational research programs, drive federal advocacy efforts, and provide high quality communications about the disease supported by credible science. The organization is also part of the Genetic Alliance network and a member of the Genetic Alliance Registry and Biobank (GARB) consortium.

The Initiative will employ PEER to build on the foundation of its biobank and grow its capacity to serve patients and researchers. PEER will enable them to perform longitudinal and cross-sectional studies, inform clinical trial designs, share information with organizations and researchers for educational and research purposes, collect diverse types of data including demographic, genetic, and health disparities, and lastly, conduct targeted surveys. The organization’s use of PEER also upholds its commitment to patient-driven initiatives.

Website: www.solvecfs.org
The Solve ME/CFS registry is not yet live. Sign up here to receive an update.

Syndromes Without A Name USA (SWAN)

SWAN offers support, advice, empathy, and information for families who are undiagnosed. It also advocates for changes in the medical community to benefit undiagnosed individuals. The organization was started by Amy Clugston, who created an email support group for families experiencing uncertainties in their diagnostic journeys after experiencing similar difficulties with her daughters, who were living without a diagnosis. In 2003, the organization started the USA chapter of SWAN modeled after SWAN UK.

Using PEER, the organization will strive to connect a larger number of undiagnosed individuals to opportunities and programs to support them in their diagnostic journey. The organization will also seek to engage families in research for and about the undiagnosed diseases community. SWAN’s work on this topic is powered in part by increased interest in undiagnosed individuals from the NIH and recent improvements in genetic testing technology.

Website: www.swanusa.org
The SWAN registry is not yet live. Sign up here to receive an update.

The Medical Investigation of Neurodevelopmental Disorders (MIND) Institute

The MIND Institute is an interdisciplinary international research center based at the University of California Davis. The institute is committed to the awareness, understanding, prevention, care, and cures of neurodevelopmental disorders by producing educational resources in partnership with the Center for Excellence in Developmental Disabilities. In total, the MIND Institute and CEDD, and its affiliated advocacy groups reach 90,000 individuals. The Institute currently supports research for the 22q11.2 deletion syndrome, ADHD, Autism spectrum disorders (ASD), Down Syndrome, Fragile X Syndrome, and other neurodevelopmental disorders.

For ADHD specifically, the Institute aspires to leverage PEER to address public stigma surrounding ADHD, uncertainty surrounding reliability around diagnoses, gaps in knowledge regarding treatment, and impairments associated with the disorder. Currently, these issues directly impact the behavioral health of patients, families, and their communities. The Institute will engage its large network to accelerate accurate and quality research. It will also conduct clinical outcomes trials to evaluate how the knowledge gained from the Institute’s resources affect individual treatment and adherence, and compare the knowledge gained from other self-guided management resources.

Website: www.ucdmc.ucdavis.edu/mindinstitute
The MIND registry is not yet live. Sign up here to receive an update.

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