NIH Data Sharing Policy
In accordance with the NIH Data Sharing Policy, data generated through the Rare Diseases Clinical Research Network is deposited in the Division of Rare Diseases Research Innovation (DRDRI), National Center for Advancing Translational Sciences (NCATS), and NIH-sanctioned data repository on behalf of the Principal Investigator.
Many studies have data available through the database of Genotypes and Phenotypes (dbGaP) and access to individual-level data including phenotypic data tables and genotype data from RDCRN studies is available by controlled access. Summaries of studies and the original study forms are available to the public.
RDCRN Studies with Data Available Through dbGaP
- 5101: Longitudinal Study of Urea Cycle Disorders
- 5102: A Randomized, Double-Blind, Crossover Study of Sodium Phenylbutyrate (Buphenyl) and Low-Dose Arginine (100mg/kg/day) Compared to High-Dose Arginine (500 mg/kg/day) Alone on Liver Function, Ureagenesis and Subsequent Nitric Oxide Production in Patients with Argininosuccinic Aciduria (ASA)
- 5104: Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy
- 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
- 5207: Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader-Willi Syndrome
- 5301: Andersen-Tawil Syndrome: Genotype-phenotype correlation and longitudinal study
- 5302: Episodic Ataxia Syndrome: Genotype-Phenotype Correlation and Longitudinal Study
- 5303: Non Dystrophic Myotonias: Genotype-Phenotype Correlation and Longitudinal
- 5305: Therapeutic Trial of Potassium and Acetazolamide in Andersen-Tawil Syndrome
- 5306: Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia
- 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
- 5403: A Phase I/II Trial of Sirolimus (Rapamune) and Cyclosporine in Patients with Refractory Aplastic Anemia
- 5405: A Phase I/II Study of Revlimid (lenalidomide) in Combination with Vidaza (azacitidine) in Patients with Advanced Myelodysplastic Syndrome (MDS)
- 5406: Mechanism and Response of Thymoglobulin in Patients with Myelodysplastic Syndrome (MDS)
- 5504: Longitudinal Protocol for Polyarteritis Nodosa
- 5510: VCRC Genetic Repository One Time DNA Protocol
- 5515: VCRC Imaging Protocol for Magnetic Resonance and Positron Emission Tomography in Large-Vessel Vasculitis (Takayasu's Arteritis): Development as Clinical Trial Outcome Measures
- 5531: Reproductive Health in Men and Women with Vasculitis
- 5601: Apparent Mineralocorticoid Excess Syndrome Natural History Clinical Protocol
- 5607: Modifier Genes in 21-hydroxylase Deficiency
- 5610: Long-Term Outcome in Offspring and Mothers of Dexamethasone-Treated Pregnancies at Risk for Classical Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency
- 5611: Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients with 21-Hydroxylase Deficiency
- 5701: QUANTitative Chest Computed Tomography UnMasking Emphysema Progression in Alpha-1 Antitrypsin Deficiency
- 5702: Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)
- 5706: Multicenter International Retrospective Cross-sectional Evaluation of Pulmonary Alveolar Proteinosis (MICEPAP) Trial
- 5801: The Incidence of Thromboembolic Events in Patients with Antibodies to Heparin-PF4 after Cardiac Bypass (HIT)
- 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
- 5903: Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age
- 5904: Cross-Sectional Characterization of Idiopathic Bronchiectasis
- 6001: Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis
- 6103: Norepinephrine Transporter Blockade as a Pathophysiological Biomarker in Neurogenic Orthostatic Hypotension
- 6104: Safety and Efficacy of Intravenous Norepinephrine for Orthostatic Hypotension
- 6204: Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step toward Biomarker Development
- 6408: Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium
- 6501: Longitudinal Study of Immune Mediated Disorders After Allogenic Hematopoietic Cell Transplantation (HCT)
- 6601: A Natural History Study of CMT1B, CMT2A, CMT4A and CMT4C
- 6603: Development of CMT Peds Scale for Children with CMT
- 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
- 6704: The Natural History of Mucolipidosis Type IV
- 6705: Longitudinal Study of Bone and Endocrine Disease in Children with MPS I, II and VI: A Multicenter Study of the Lysosomal Disease Network
- 6707: Characterizing the Neurobehavioral Phenotype(s) in MPS III (Pilot Study)
- 6709: Longitudinal Follow-up of Individuals with Infantile Pompe Disease
- 6716: Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
- 6719: Immune Response to Intrathecal Enzyme Therapy in Mucopolysaccharidosis I Patients
- 6901: A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders
- 6902: A Retrospective and Cross - Sectional Analysis of Patients Treated for SCID (1968-2010)
- 7001: Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
- 7201: Longitudinal Study of the Porphyrias
- 7301: Natural History of and Genetic Modifiers in Spinocerebellar Ataxias
- 7401: North American Mitochondrial Disease Consortium Patient Registry and Biorespository