NIH Data Sharing with dbGaP
In accordance with the NIH Data Sharing Policy, the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS) has selected the database of Genotypes and Phenotypes (dbGaP) as the Rare Diseases Clinical Research Network (RDCRN) Federal Data Repository.
Access to individual-level data including phenotypic data tables and genotypes data from RDCRN studies is available through dbGaP by controlled access. Summaries of studies and the original study forms are available to the public. Descriptions of the dbGaP system are available in Pub Med Central and the NCBI Bookshelf.
Per NIH guidelines, the RDCRN sends all data collected to dbGaP. To facilitate this process, the RDCRN DMCC submits the data to dbGaP on behalf of the Principal Investigator in accordance with the approved RDCRN Data Sharing Policy.
RDCRN Studies with Data Available Through dbGaP
- 5107: Investigation of Brain Nitrogen Metabolism in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1H MRS, DTI, and fMRI
- 5201: Rett Syndrome Natural History Protocol
- 5202: Prader-Willi Syndrome and Early-onset Morbid Obesity Natural History Clinical Protocol
- 5203: Angelman Syndrome Natural History Protocol
- 5204: Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome
- 5401: Screening Protocol and Longitudinal Study Of Bone Marrow Failure Syndromes And Cytopenias
- 5402: A Phase 2 Study of R115777 in Large Granular Lymphocyte (LGL) Leukemia
- 5901: Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age
- 5902: Rare Genetic Disorders of the Airways: Cross-section Comparison of Clinical Features, and Development of Novel Screening and Genetic Test
- 6204: Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step toward Biomarker Development
- 6604: Development and Validation of a Disability Severity Index for Charcot-Marie-Tooth Disease (CMT)
- 6702: Natural History and Structural Functional Relationships in Fabry Renal Disease
- 6703: Longitudinal Studies of Brain Structure and Function in MPS Disorders
- 7201: Longitudinal Study of the Porphyrias