Thousands of rare disease patients and families have shared their health data through RARE-X, allowing researchers from around the world to access their deidentified data and help further research.
We work with Patient Advocacy Groups to organize their communities and encourage participation in their disease’s Data Collection Program on the RARE-X platform. Patients not only contribute data to this growing knowledge-base, they also propel research recruitment efforts. By engaging thousands of patients directly, building a circle of trust, and by putting information-sharing power and control into the hands of patients, we are accelerating research progress.
Rare Disease Communities Active on the RARE-X Platform
More than 120 patient advocacy groups representing over 80 disease communities are collecting data on RARE-X.
- 4H Leukodystrophy (https://rare-x.org/4hleukodystrophy/)
- 8p (https://rare-x.org/8p/)
- Achondroplasia & Other Skeletal Dysplasias (https://rare-x.org/ach-osd/)
- ADCY5-related Dyskinesia (https://rare-x.org/adcy5-related-dyskinesia/)
- ADOA-Autosomal Dominant Optic Atrophy (https://rare-x.org/adoa/)
- ADSL Deficiency (https://rare-x.org/adsld/)
- Alternating Hemiplegia of Childhood (AHC) (https://rare-x.org/ahc/)
- AP-4 Hereditary Spastic Paraplegia (https://rare-x.org/ap-4/)
- ARHGEF9 gene (https://rare-x.org/arhgef9disorders/)
- BCAP31 (https://rare-x.org/bcap31/)
- Bloom Syndrome (https://rare-x.org/bloomsyndrome/)
- BPAN/WDR45 Beta-Propeller Protein-Associated Neurodegeneration (https://rare-x.org/bpan/)
- CACNA1A (https://rare-x.org/cacna1a/)
- CASK Gene Mutations (https://rare-x.org/cask/)
- CHAMP1 (https://rare-x.org/champ1/)
- Charcot-Marie-Tooth disease (CMT4B3) (https://rare-x.org/cmt4b3/)
- CHD2 (https://rare-x.org/chd2/)
- CHOPS Syndrome (https://rare-x.org/chops/)
- Chorea- Acanthocytosis (https://rare-x.org/choreaacanthocytosis/)
- Dent Disease (https://rare-x.org/dentdisease/)
- DESSH/DeSanto-Shinawi Syndrome (https://rare-x.org/dessh/)
- DHDDS-related neurodevelopmental disorder
- DLG4-related Disorders (https://rare-x.org/dlg4/)
- Dopamine Transporter Deficiency Syndrome (DTDS) (https://rare-x.org/dtds/)
- DYRK1A Syndrome (https://rare-x.org/dyrk1a/)
- Dyskeratosis Congenita and related Telomere Biology Disorders (https://rare-x.org/tbd-dc/)
- FAM177A1 Associated Disorder (https://rare-x.org/fam177a1/)
- FOXP1 (https://rare-x.org/foxp1/)
- Glycogen Storage Disease 1b (GSD1b) (https://rare-x.org/gsd1b/)
- H-ABC/TUBB4A (https://rare-x.org/h-abc-tubb4a/)
- Homocystinuria (HCU) (https://rare-x.org/homocystinuria/)
- Huntington’s Disease (https://rare-x.org/huntingtonsdisease/)
- HUWE1 (https://rare-x.org/huwe1/)
- HypoPARAthyroidism (https://rare-x.org/hypoparathyroidism/)
- Indousrare (https://rare-x.org/indousrare/)
- Infantile Neuroaxonal Dystrophy (https://rare-x.org/infantileneuroaxonaldystrophy/)
- Jeavons syndrome (Epilepsy with Eyelid Myoclonia) (https://rare-x.org/jeavons-syndrome/)
- KDM5C (https://rare-x.org/kdm5c/)
- Kleefstra (https://rare-x.org/kleefstra/)
- Koolen-de Vries Syndrome (https://rare-x.org/kdvsf/)
- Leber Hereditary Optic Neuropathy (LHON) (https://rare-x.org/lhon/)
- Lennox-Gastaut syndrome (LGS) (https://rare-x.org/lgs/)
- Malan syndrome (https://rare-x.org/malansyndrome/)
- McLeod Neuroacanthocytosis Syndrome (https://rare-x.org/mcleodneuroacanthocytosissyndrome/)
- MED13L-related disorders (https://rare-x.org/med13l/)
- MSL3 (https://rare-x.org/msl3syndrome/)
- NALCN Channel-related disorders (including IHRPF)
- NARS1 genetic mutation (https://rare-x.org/nars1/)
- Nonsense Mutations (https://rare-x.org/nonsensemutations/)
- Ogden Syndrome (https://rare-x.org/1ogden/)
- Pallister-Killian Syndrome (https://rare-x.org/pks/)
- Pompe Disease (https://rare-x.org/pompe/)
- Ring 14 (https://rare-x.org/ring14/)
- Salla Disease and related Free Sialic Acid Storage Disorders- FSASD (https://rare-x.org/salla-research/)
- SCAR15 Spinocerebellar Ataxia Recessive Type 15
- SETBP1 haploinsufficiency disorder (https://rare-x.org/setbp1/)
- SHANK2-related disorders (https://rare-x.org/shank2/)
- Sleep Consortium (https://rare-x.org/sleepconsortium/)
- SMARD (Spinal Muscular Atrophy with Respiratory Distress – https://rare-x.org/smard/)
- SNAP25-related disorders
- SRRM2-related disorders (https://rare-x.org/srrm2/)
- STXBP1 (https://rare-x.org/stxbp1/)
- SYNGAP1 (https://rare-x.org/syngap1/)
- TANC2-related disorders (https://rare-x.org/tanc2/)
- TBCK Syndrome (https://rare-x.org/tbck/)
- Tolchin-Le Caignec Syndrome (SOX6) (https://rare-x.org/sox6/)
- UBA5-related disorders (https://rare-x.org/uba5/)
- Undiagnosed (https://rare-x.org/undiagnosed/)
- Usher Syndrome (https://rare-x.org/ushersyndrome/)
- V-ATPase related disorders (https://rare-x.org/v-atpase/)
- Vici syndrome (https://rare-x.org/vicisyndrome/)
- Wiedemann-Steiner Syndrome (WSS) (https://rare-x.org/wss/)
- YWHAG-related conditions
- ZTTK-related disorder (https://rare-x.org/zttk/)
Do you want to collect data on RARE-X for your rare community?
My disease is so rare. Can I still contribute?
With ultrarare diseases, it’s possible an individual is the only patient in the world, or one of only a few patients with their condition. These patients are also called “N-of-1” patients, and for these patients, there are now research methods that can support N-of-1 or N-of-few therapy development. Capturing patient data on symptoms and how symptoms change over time is important for understanding any rare disease and developing therapies.
Begin Sharing Your Data HereIs your rare disease undiagnosed?
Undiagnosed patients can benefit from new science now available in the world of rare disease. Patients who are currently “undiagnosed” may get a diagnosis in the future through newer testing approaches such as genomic testing. We have developed a simple way for you to become a data generator and contributor today. The RARE-X platform will guide you through consent, support who you want to share your data with and provide a framework for collecting your valuable health data.
Get Started HereMy disease isn’t listed above. Can I still contribute?
If your disease community is not already collecting data on RARE-X, you can start a data collection effort that will benefit you and other patients in your community. You don’t need to already be a patient advocacy group leader. Our Patient Engagement team will work with you and support you to launch data collection and continue it.
Contact UsRARE-X FAQ
Who owns the data on RARE-X?
Participants! People who contribute their data to the RARE-X DCP own and manage their data, including who has access to it and how it’s used. These data preferences can be updated at any time. This approach is a reflection of RARE-X’s core principles – when patients are empowered as data owners, it benefits everyone in the rare disease community. We believe patients should have flexibility in who they share their data with, what data they are willing to share, and when.
Is RARE-X global?
Yes! Patients from all over the world can participate in the RARE-X DCP. Currently, RARE-X is collecting data in over 90 countries.
Does my organization have to be a 501c3 to participate?
No! Not all diseases have associated 501c3 organizations or international equivalents. Patients and patient communities organize themselves in different ways (ex. Facebook groups), and we understand the value of these communities and believe they should BE COUNTED too.
Does it cost anything to have a DCP with RARE-X?
The RARE-X DCP standard surveys and support services are free for patient advocacy organizations, patient communities, and N-of-1 patients/caregivers.
RARE-X can be extended through sponsored programs, enabling deeper data collection for individual disorders, or generating insights based on specific questions of interest.
What languages are supported in the DCP?
Currently, the RARE-X DCP platform and surveys are available in English. Disease-specific, public-facing “community pages” are available in 9 languages: English, Chinese, French, German, Hindi, Italian, Portuguese, Russian, and Spanish via a webpage translation service.
What if there aren’t surveys appropriate for my condition?
Data collection within RARE-X starts with capturing high level symptoms and quality of life data for all participants. RARE-X is constantly working to add new surveys to the DCP to capture more detailed symptom or phenotype information. If there aren’t detailed surveys appropriate for your condition, you can still participate in the Program to collect initial data, and will be notified when a new survey is available for you to complete. To learn what surveys are available on the DCP, and what surveys are planned, please contact us.
