Patients and Family Members
Researchers and Clinicians
Interested researchers and clinicians can access to de-identified information collected in our publicly accessible PIN network through our PIN Data Portal.
The purpose of this registry is to gain a better understanding of the medical, developmental, and behavioral features associated with 17q12 deletions and duplications. The information provided by individuals and their families will help improve the diagnosis and clinical care for all those affected by this rare genetic variant.
Our mission is to learn more about 3q29 Deletion Syndrome and 3q29 Duplication Syndrome, and improve the quality of care for individuals with this diagnosis. Because the 3q29 Deletion and 3q29 Duplication are so rare, it is difficult for medical practitioners, familes, and individuals to know what to expect. Our goal is to create a resource for families and professionals to address this gap in knowledge.
By joining our registry and providing information about your AI experiences and symptoms you'll be assisting in the collection of much needed data on this often misunderstood endocrine disorder. This registry will also benefit the adrenal insufficient community as we connect with each other and to potential researchers and/or companies interested in developing new treatment options.
This registry was created to develop a comprehensive data bank of individuals with Alagille Syndrome (ALGS) to better understand its characteristics, determine areas needing further research, and develop targeted treatments to improve the lives of those affected. Everyone with ALGS, regardless of age, severity of symptoms, affected organs, place of residence, etc., is eligible to participate. The only way to unravel the mystery of ALGS is through research. Research needs data, and that information comes from those willing to share their time, family history, and samples (tissue, blood, DNA, etc.).
ALKConnect is a patient registry created to advance the understanding of anaplastic lymphoma kinase positive (ALK+), non-small cell lung cancer (NSCLC). Enroll in the registry to share your experiences, access data and insights and learn more about new ALK+ NSCLC clinical trials. Your participation may help us discover findings to improve patient lives. Together, we can build the ALK+ NSCLC community!
The goal of the Registry is to facilitate discovery of a non-invasive treatment for Cavernous Angioma. Members of the Registry have the opportunity to assist in the development process as members are provided with the most up-to-date information about research studies and clinical trials seeking participants.
The purpose of this registry is to develop a comprehensive database of individuals who are diagnosed with an eosinophil associated disease, to better understand the characteristics of these diseases, to determine areas that need further research, and to help pharmaceutical companies with the development of treatments to improve the lives of those affected.
The purpose of BRR is to amass information and biological specimens from individuals with Barth syndrome into a single database, which will be utilized by researchers to better understand Barth syndrome. Through our families' contribution to the BRR knowledge is gained, research is facilitated and differences are being made.
CADASIL is a rare disease for which there are currently no effective therapies and no known cure. We hope that the cureCADASIL Family Registry will provide a forum for CADASIL patients and families from all over the world to share their information. With your help, this registry will make CADASIL information accessible to researchers and other participants.
This Canavan Disease PIN is an opportunity to build one central and international network of information on families living with Canavan. By gathering the experiences of families from around the world, we are creating a research-ready community poised to help drug developers and researchers get closer to treatments and a cure.
In order to accelerate translational efforts (moving from basic laboratory research to meaningful health outcomes, such as therapies and treatments) related to Cardio-Facio-Cutaneous syndrome, CFC International is partnering with Patient Crossroads to launch their patient Registry. The Registry is important for characterizing and understanding CFC syndrome better. Not only will the Registry provide valuable information for families and doctors to make the best care decisions possible, it will be important to help researchers decide what are the most important challenges to address. The Registry will also help scientists find out if there are any CFC syndrome patients who might be a good match for their research studies.
This registry serves as a link between those at risk of developing Chagas disease, clinicians treating those individuals, and researchers exploring better treatment options. As an important tool in the battle against Chagas disease, the Chagas Disease registry aims to empower patients and enhance disease research. The primary purpose of this registry is to improve treatment access for those living with Chagas disease, as well as encourage the development of new medications and treatment options. Participation in this registry will help increase disease awareness, promote future research, and ultimately connect patients living with Chagas disease.
The Vision of The International Cholangiocarcinoma Patient Registry Database is to collect patient information about the incidence and prevalence of cholangiocarcinoma and related disorders. The International Cholangiocarcinoma Patient Registry will also assist in the screening of appropriate participants for research studies and clinical trials.
Circadian Sleep Disorders Network is an independent nonprofit organization dedicated to improving the lives of people with chronic circadian rhythm disorders. Through this effort to collect information from as many people as possible we can learn about the similarities and differences among people with Circadian Rhythm Sleep Disorders, including which treatments work or don't work for people actually suffering from these disorders. The data collected will be useful to researchers.
The Congenital Muscle Disease International Registry (CMDIR), including Congenital Muscular Dystrophy, Congenital Myopathy, and Congenital Myasthenic Syndrome, was created in 2009 to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. The CMDIR registers through the late onset spectrum for all three disease groups.
This collaborative registry unites families and advocacy efforts to make de-identified data on MPS related diseases available to researchers and companies worldwide. Researchers and drug developers alike can better understand the progression of MPS and ML, accessible through a central, openly-accessible portal. Participants can receive information about the upcoming clinical trials most relevant to them.
Every addition to this registry will give epithelioid hemangioendothelioma (EHE) patients, their loved ones, physicians and other medical professionals an excellent opportunity to find answers to a rare health problem. Finding treatments that work and learning how and possibly why our disease progresses the way that it does is so important.
This registry was created to develop a comprehensive data bank of individuals with Creatine Deficiency Syndromes (CDS). This registry will allow patients, family members and researchers to gather information in a safe, confidential, online database. It will collect critical information to understand the history and progression of CDS, to make it easier for researchers to study, for patients and families to learn about treatments and for advocates to speak on behalf of the CDS community. This registry will ultimately grow the knowledge base that will build better lives for everyone with CDS.
CCIR is the only comprehensive, global registry for cystinosis. The purpose and goal of CCIR is to achieve worldwide registration of the cystinosis community which will increase the community’s ability to help one another through improved communication and information sharing and by doing so, help the thousands of people affected by cystinosis. Among other things, CCIR is a central hub for current information regarding cystinosis clinical trials and studies.
The new Dandy-Walker Patient Registry allows people diagnosed with Dandy-Walker, their family members and researchers to gather and share information and health history in a safe, confidential, online database. This registry will help us better understand the major health issues among individuals with Dandy-Walker, improve the natural history for the diagnosis and help us recruit for future pre-clinical research studies and therapeutic clinical trials all while educating the community and raising awareness regarding diagnosis, study of the causes and treatments.
The Double Hit Lymphoma Patient Registry represents a collaborative effort to connect patients, caregivers and clinicians around the world. Our Registry has three primary goals: Develop a community of people impacted by double hit lymphoma who may serve as sources of inspiration and hope to others; Provide insight on what additional resources are needed by patients and clinicians and a channel through which we can deliver those resources; Assist, accelerate and support research into earlier and more comprehensive diagnosis and treatment of double hit and other MYC-related lymphomas.
After several years of working with scientific and family communities to achieve the various goals of the plan, the NIH created the Down Syndrome Consortium to foster communication and idea-sharing among NIH, individuals with Down syndrome and their families, national organizations interested in Down syndrome, and pediatric and other groups. One of its first activities was to create a Down syndrome registry, now called DS-Connect®: The Down Syndrome Registry.
The purpose of the registry is to develop a comprehensive database of individuals with Dup15q Syndrome, to better understand the characteristics of the syndrome, determine areas that need further research and develop targeted treatments to improve the lives of those affected by Dup15q Syndrome. The registry has been developed by the generous support of friends and family of the Dup15q Alliance.
The goal of the Global Dystonia Registry is to support future dystonia studies, including clinical and research trials, through the collection of data on persons affected by dystonia. Although the focal dystonias have many different manifestations, most experts believe they share a common pathogenesis or mechanism that causes the disorder. The common causes may be a similar gene defect, similar lifetime experiences, or both. Collecting information from different patient populations may help us identify the common features that they may share. This Registry compliments the current scope of research for the Dystonia Coalition, a National Institutes of Health supported clinical research effort.
The EBCare Registry is a resource for individuals and families affected by all forms of epidermolysis bullosa (EB) and qualified researchers working on approved EB research projects. The Registry itself is a research project and the data collected through the Registry will help characterize the condition of people living with all types of EB.
The EEF1A2 International Registry is designed to allow information on patients with mutations in EEF1A2 to be collected together in one place. The more information we can compile, and the more consistency with which this information is put together, the better our chances of understanding how mutations in EEF1A2 cause epilepsy and intellectual disability.
We will be able to track outcomes, pull together information about which drugs help and which don’t, and ultimately design better therapeutic strategies and develop new drugs.
The purpose of the registry is to create a comprehensive database of individuals with essential tremor to better identify the impact of this condition that affects up to 10 million people in the U.S. and many more world-wide. While essential tremor has been considered benign by many in the healthcare community, we know this is not the case. Your help will provide the research community the data to determine what areas need further addressing so effective treatments and eventually a cure can be found.
The FOD Registry was created in order to build a comprehensive database of Children and Adults living with a Fatty acid Oxidation Disorder (FOD) such as MCAD, LCHAD, VLCAD, SCAD, TFP, GA 2/MADD, CPT 1 & 2, CUD, CACT, HADH, HMG, MCKAT, 2,4-Dienoyl-CoA reductase, and Unclassified FODs. This database will be accessible to researchers from around the world interested in FODs.
Severe hypertriglyceridemia (severe high triglycerides) is seen in conditions such as familial hypertriglyceridemia, chylomicronemia syndrome, LPLD and others. In this rare disorder, the level of triglycerides (a type of fat) in a person's blood are higher than normal. The condition is not associated with a significant increase in cholesterol levels. If you have been diagnosed with severe high triglycerides, please register and complete a medical questionnaire and help researchers discover treatments.
The purpose of this registry is to create global database where doctors, researchers and families can connect to better understand FPIES, Food Protein Induced Enterocolitis Syndrome. The goal is improved diagnosis, management and treatment options; as well as empowerment of patients and families through knowledge, connections, and continued support.
This registry will help researchers better understand the condition and the challenges the patient community faces in order to improve quality of life and develop new treatment options. It will also allow the Hydrocephalus Association to develop educational resources for the patient community to support them on their journey. The registry is designed to be inclusive of all ages and types of hydrocephalus. So, if you are young or old, developed hydrocephalus in infancy, as the result of a genetic mutation, acquired hydrocephalus after a brain injury, or have Normal Pressure Hydrocephalus, please join the registry and help researchers and the Hydrocephalus Association better understand you and the condition.
By participating in this registry it will enable Researchers and Clinicians to identify and understand the definitive symptoms of IIH, and perpetuate research into medications and alternative treatments, which will help to enhance the lives of people with this condition. The more information gathered for research into IIH, and the more information collated for that purpose for Researchers, Clinicians and Medical Professionals, the better the chance of finding more effective and less invasive treatment methods. We can make a difference by having our Registry and give you a voice.
The goal of the registry is to collect clinical and genetic information on patients diagnosed with the various forms of hereditary neuropathies in order to advance therapy development for these debilitating disorders. This registry is co-funded by the Hereditary Neuropathy Foundation (HNF) and Hannah’s Hope Fund for Giant Axonal Neuropathy (GAN).
By working together and sharing information, the KAT6A Foundation asks those with confirmed KAT6A mutations as well as individuals with mutations in any of the genes in the Lysine(K) Acetyl Transferase (KAT) family to participate in this patient registry. We welcome patients with confirmed mutations in genes that are in the Lysine(K) Acetyl Transferase family of genes as these have related functions can help us understand how lysine acetyl transferase function affects human development and how we might identify novel targets to treat mutations in these genes. Your participation may define the disease(s) associated with KAT6A and associated mutations, inform the development of therapies and treatments, and increase our knowledge of disease processes.
The KCNQ2 Cure International Patient Registry will organize a system of information that will use observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for KCNQ2 epileptic mutations, condition or exposure, and that serves one or more predetermined scientific, clinical, or policy purpose. In addition to providing clinically relevant data that are meaningful to patients and providers, this registry will have the ability to provide data on KCNQ2 mutations not typically studied. The KCNQ2 registry can offer adaptable designs and data collection strategies, making them particularly useful when treatments are rapidly changing. The registry will reveal potential crucial data for scientists that will speed up the development of drugs and new treatments for individuals with KCNQ2 mutations.
PatientCrossroads, in partnership with leading international lipodystrophy (LD) researchers, academic centers and pharmaceutical companies have developed the LD Connect Patient Registry. The purpose of LD Connect is to generate sufficient data to better characterize the lipodystrophy patient community. An objective of the LD Connect Patient Registry is to disseminate the results of the collected data to the scientific community. These results will include registry outcomes, secondary analyses, and ancillary studies.
The Lymphangiomatosis and Gorham's Disease Alliance (LGDA) established the International LGDA Registry for Lymphatic Malformations as an internet-based information database for researchers and clinicians, as well as an information network for individuals with lymphangiomatosis and Gorham's disease and their families as a means to achieving its ultimate goal of developing cures for these diseases. The Registry is also open to individuals affected by a number of other lymphatic malformations and osteolytic bone diseases.
We believe that the key to discovery lies within the patient themselves. Together, with your participation in this lung cancer registry, we can build the knowledge base to enable Researchers and Clinicians to identify and understand the complexities of this disease. Knowledge is power. Be the voice.
Mast Cell Connect is a patient registry to advance understanding of mastocytosis and help speed the development of new therapies that improve patients’ lives. Share your experiences, get data and insights from the registry, and find out about clinical trials. By participating, you will gain access to data and insights gleaned from other patients’ responses that may be useful in better understanding your own disease.
The MdDS Balance Disorder Foundation is an all-volunteer 501(c)(3) nonprofit foundation. The Foundation promotes international awareness of Mal de Débarquement Syndrome (MdDS) while advocating for those living with MdDS and seeking treatments and a cure for people suffering from this rare neurological disorder. With this registry, we seek to establish consistent patient information to provide more accurate data to medical professionals, and researchers.
Help advance Morgellons Disease research by providing essential data directly to those seeking answers and ultimately the cure. Bringing recognition of Morgellons Disease is a multifaceted undertaking. We must build a factual and scientifically based Morgellons Disease Comprehensive Global Registry (MDCGR). Combined with research, this data will move us forward more rapidly in obtaining answers, recognition, acceptance, and support. Your voice will be heard by joining the many others who have contributed information to the MDCGR.
My Retina Tracker is a free on-line registry provided by the Foundation Fighting Blindness as part of its mission to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of inherited retinal degenerative diseases.
MyLymeData is research done differently. It is the first national large-scale study of chronic Lyme disease. This study is different from all other Lyme disease studies because it’s patient-powered BIG DATA research. Patients have more at stake in diagnosis and treatment of Lyme disease than anyone else involved in their healthcare. They are more dogged in the pursuit of their interests over time. MyLymeData lets patients learn from each other and provide data that can drive research to improve patients’ lives.
The Myotonic Dystrophy Family Registry (MDFR) is a web-based database of information provided by you to aid researchers in developing treatments for myotonic dystrophy and identifying participants for research studies and clinical trials. MDFR will also enable the Myotonic Dystrophy Foundation and others to review community-reported statistics and data about the experience of living with DM that will aid our advocacy and education efforts.
The Newborn Screening (NBS Connect) patient registry serves as an internet-based support network for parents, guardians and individuals with inherited metabolic disorders (IMDs). NBS Connect will capture and analyze information related to IMDs in an effort to assess gaps in service, access to care and to develop best standards of practice for clinical management and connect families to research opportunities. NBS Connect strives to improve the quality of care of individuals with IMDs.
A team of renowned narcolepsy researchers are collaborating to create this narcolepsy registry. By tracking a large number of people with narcolepsy over several years, we will learn more about the experiences of people who have been diagnosed with narcolepsy, the impact the condition has on the lives of those affected, and how the condition changes over time.
The NF Registry's mission is to identify people with NF who are interested in participating in clinical trials, as well as determining the commonality of specific characteristics of neurofibromatosis. The NF Registry is committed to secure methodologies and pioneering research that will lead to improving the health and well-being of individuals and families affected by NF.
The purpose of this registry is to consolidate information on those affected by ectodermal dysplasias into a single data repository which will be utilized to enable research and clinical trials leading to future treatments and cures. If you have or are registering for an individual affected by ectodermal dysplasia, please register with the National Foundation for Ectodermal Dysplasias (NFED). This registry is an international registry and includes all ectodermal dysplasia subtypes.
Welcome to the Noonan Syndrome Foundation’s patient registry for individuals affected by Noonan syndrome and Noonan syndrome with multiple lentigines (AKA: Leopard syndrome). Your willingness to share information about yourself and/or your child can help us make a difference in the future.
This database will be accessible to researchers around the World interested in studying Noonan syndrome and Noonan syndrome with multiple lentigines (AKA: Leopard syndrome).
The Registry is a unique online tool that helps empower patients, families, clinicians and researchers to work together to improve the knowledge of these disorders. This knowledge has the potential to accelerate research for new treatments and improve care. The Registry establishes a global resource of information gathered from patients and families like you who are affected by Organic Acidemias. The type of information collected will include diagnoses, symptoms, current treatments, and quality of life. This information is crucial to developing new treatments.
We invite all Polymicrogyria (PMG) patients and families to join, to provide de-identified medical information to the registry to help everyone in the global Polymicrogyria community – patients, families, researchers, clinicians, and pharmaceutical companies – learn more about Polymicrogyria. The goal is improved diagnosis and medical care, as well as empowerment of patients and families through knowledge, connections, and support.
In order to accelerate translational efforts (moving from basic laboratory research to meaningful health outcomes, such as therapies and treatments) related to Phelan-McDermid Syndrome, PMSF is funding the Phelan-McDermid Syndrome International Registry. The Registry is important for characterizing and understanding the syndrome better. Not only will the Registry provide valuable information for families and doctors to make the best care decisions possible, it will be important to help researchers decide what are the most important challenges to address. The Registry will also help scientists find out if there are any PMS patients who might be a good match for their research studies.
PrenatalDNAResource.org is a collaboration between Geisinger Health System, Columbia University, and the University of Pennsylvania. The site is dedicated to providing resources and information to parents, clinicians, and researchers about DNA deletions & duplications identified on prenatal chromosomal microarray testing. Funded through a grant from the National Institute of Health (NIH) National Institute of Child Health and Human Development (NICHD), PrenatalDNAResource.org will have up-to-date information & resources for all visitors to this site, as well as additional tools and features for registered users.
We invite all persons with SMS to join and need parents and guardians to participate on their behalf. Your participation to provide de-identified medical information to the registry will help everyone in the global SMS community – patients, families, researchers, clinicians, and pharmaceutical companies – learn more about Smith-Magenis Syndrome. The goal is to improve diagnosis and medical care, as well as empowerment of patients and families through knowledge, connections, and support.
PROMPT, which stands for Prospective Registry of Multiplex Testing, is a research registry for people who have had a newer form of genetic testing, called multi-gene panels. These panels look for mutations in several different genes all at once. All of the genes on the panels have been tied to an increased risk of cancer, but the risks associated with some of the genes are better known than the risks associated with others.
The goal of the registry is to collect de-identified (anonymous) information on patients diagnosed with primary sclerosing cholangitis (PSC) in order to increase and accelerate research, enable clinical and drug trials, and find effective treatments for PSC. PSC is a poorly understood disease for which there are currently no effective therapies and no known cure. We hope that our patient registry will provide a forum for PSC patients from all over the world to share their medical information and provide researchers with data that will lead to a better understanding of PSC.
Welcome to The Romberg’s Connection Patient Registry. We hope you will join us in coming together to provide information on Parry Romberg Syndrome. Very little research has been done on Parry Romberg Syndrome. Our goal is to provide information from those affected with this rare disorder. This information can be accessed by the research community.
This FSR-SARC REGISTRY data will connect patients, physicians, scientists and funders seeking better treatments and a cure. By registering and agreeing to participate, your coded, unidentifiable and secure data about your treatments and disease effects can be added to those of others with this rare disease, and provide enough data to help guide the research community in setting research priorities and in developing new clinical trials.
The Simons Variation in Individuals Project - Simons VIP - is an online community that supports families with rare genetic changes (also called “genomic variants”) associated with features of autism and developmental delay by providing access to resources and information. This initiative also provides an opportunity for families to participate in research.
Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) is a rare, highly malignant tumor that affects mainly young women. The median age of diagnosis is 24 years old. Approximately two thirds of patients with ovarian small cell carcinoma have hypercalcemia.The SCCOHT Patient Registry allows patients diagnosed with SCCOHT, their families, and researchers to gather and share information and health history in a safe, confidential, online database. This registry will help us better understand the major health issues among individuals with SCCOHT, improve the natural history for the diagnosis, gain insight into treatments, and help us recruit for future pre-clinical research studies and therapeutic clinical trials all while educating the community and raising awareness regarding diagnosis, study of the causes and treatments.
The SWF funded and launched the online Sturge-Weber International Registry in order to accelerate translational efforts (moving from basic laboratory research to meaningful health outcomes, such as therapies and treatments) related to Sturge-Weber and birthmarks. The registry contains consented clinical data (that was previously stored in a server based software platform) collected in some cases since 1987. This data has been instrumental in engaging clinicians and scientists to study the syndrome and been acknowledged in highly respected medical journals. The data was also a key factor in many researchers obtaining National Institutes of Health (NIH) grant awards.
Welcome to the Trisomy 18 International Patient Registry – a research database of families and children impacted by a Trisomy 18 diagnosis – past, present and future. The purpose of this registry is to accelerate interest and investment in biomedical research to change how Trisomy 18 is understood and treated so that fewer families lose their precious children to this condition in early life. The Registry is developed with the generous support of friends and families to the Trisomy 18 Foundation.
The Urea Cycle Disorder International Patient Registry empowers every UCD patient and family around the world to make a difference in the fight to conquer UCD. By participating in the Registry and completing your profile survey about your own unique experience with UCD, you are contributing to a global database about the prevalence of UCD subtypes, the accessibility of diagnosis, care and treatments, and how UCDs affect patients. The information you enter is anonymized and pooled with the anonymized data from other participants to create a centralized resource that is vital to helping researchers learn more about UCDs, accelerating the development of new research and treatments, identifying issues that need research, and improving the care of all those with UCD.
VEDA has launched an advocacy effort with the goal of reducing the time it takes to diagnose a vestibular disorder. WE NEED YOUR HELP! By answering our survey questions you’ll be contributing to a body of data that can be used to evaluate the barriers to diagnosis and develop a plan to address them. With your help VEDA can share the vestibular patient’s experience with the medical community. Together we can implement systemic change to raise awareness about vestibular disorders, thereby reducing diagnosis times and improving treatment effectiveness.