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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 50,000 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

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

The Amyloidosis Support Groups

The Amyloidosis Support Group is a nonprofit organization founded in 2004 and is completely volunteer run. The main goal of the organization is to support the patients by educating them with all available information about the disease and providing access to the expert medical professionals. ASG has a 24-hour hotline. As of 2019, the organization runs a network of Support Groups in 30 cities. Some of the cities have multiple meetings during the year. ASG is not a fundraising organization and exists due to donations from the community.

ASG goal in developing the registry is to gather data about the natural history of amyloidosis to improve its management and treatment. Specifically ASG aims to document the natural history of various forms of amyloidosis, provide data supporting research that may improve the management or treatment of amyloidosis and inform persons with amyloidosis about research studies for which they may qualify.

Website: www.amyloidosissupport.org/index.html
Registry: launching July 2019

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

Gorlin Syndrome Alliance: GENERATIONS: Registry 4 Life

Gorlin Syndrome Alliance (formerly the BCCNS Alliance) 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 Gorlin syndrome, to expand outreach, and to improve quality of life for its members and their families.

Website: www.gorlinsyndrome.org
GENERATIONS: Registry 4 Life: www.gorlinsyndrome.org/research/gsa-registry

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.

The Ehlers-Danlos Society: EDS/HSD Global Registry

The Ehlers-Danlos Society is a global community of patients, caregivers, health care professionals, and supporters, dedicated to saving and improving the lives of those affected by the Ehlers-Danlos syndromes and related disorders. We support collaborative research and education initiatives, awareness campaigns, advocacy, community-building, and care for the EDS and HSD (Hypermobility Spectrum Disorders) population. Our goals are world-wide awareness—and a better quality of life for all who suffer from these conditions. Research is at the center of what we do, so that one day we will have a cure. Our strength begins with hope.

The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders that can be inherited and are varied both in how they affect the body and in their genetic causes. Hypermobility spectrum disorders (HSD) are a group of conditions related to joint hypermobility. Join the EDS/HSD Global Registry and help researchers throughout the world to advance our understanding of EDS, HSD, and related symptoms and conditions!

Website: www.ehlers-danlos.com
EDS/HSD Global Registry: www.ehlers-danlos.com/eds-global-registry

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

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

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.

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

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

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

 

Other Registries

These registries were abandoned by their sponsoring organization, but the individuals who registered and answered surveys continue to be involved.

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

Autoimmune Registry, Inc. (ARI)

AXYS AXYON Registry

Celiac Disease Foundation(CDF): iCureCeliac

Dyskeratosis Congenita Outreach Registry

Free the Data Registry

Genetic Alliance Patient-Focused Drug Development (PFDD) Initiative

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

Hepatitis Foundation International Registry

National Gaucher Foundation (NGF) Registry

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