Rare Diseases Clinical Research Network
Rare Diseases Clinical Research Network
Explore linked clinical trials.9 results · Page 1 of 1
Clinical trials
Swipe the table sideways for more columns.
| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pyruvate Dehydrogenase Complex Deficiency Disease, Pyruvate Metabolism, Inborn Errors, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, intellectual disability, metabolic disease, nervous system disorder | Recruiting | Not stated | 2026-10-05 | NCT03056794 | |
| Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Fabry disease, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis, vascular disorder | Recruiting | Not stated | 2026-08-14 | NCT01581424 | |
| Krabbe Disease Global Patient Registry | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hereditary Central Nervous System Demyelinating Diseases, Krabbe disease, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, demyelinating disease, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis | Recruiting | Not stated | 2026-07-17 | NCT02993796 | |
| AVTX-801 D-galactose Supplementation in SLC35A2-CDG | SLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of Glycosylation | Not yet recruiting | Phase 2 | 2026-06-29 | NCT05402384 | |
| A National Registry For Pulmonary Alveolar Proteinosis | lung disorder, pulmonary alveolar proteinosis, respiratory system disorder | Recruiting | Not stated | 2026-03-17 | NCT02461615 | |
| A Natural History Study of the Gangliosidoses | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, GM1 gangliosidosis, GM2 gangliosidosis, Gangliosidoses, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, Sandhoff disease, Tay-Sachs Disease, Juvenile, Tay-Sachs disease, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis | Recruiting | Not stated | 2026-03-04 | NCT00668187 | |
| One-Time DNA Study for Vasculitis | Aortic Arch Syndromes, Cerebral Small Vessel Diseases, Granuloma, Hemic and Lymphatic Diseases, Skin and Connective Tissue Diseases, Takayasu arteritis, anti-neutrophil cytoplasmic antibody-associated vasculitis, aortic disorder, arteritis, autoimmune disease, autoimmune disorder of the nervous system, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system vasculitis, cerebrovascular disorder, eosinophilic granulomatosis with polyangiitis, granulomatosis with polyangiitis, immune system disorder, interstitial lung disease, lung disorder, lymphatic system disorder, lymphoproliferative syndrome, microscopic polyangiitis, necrotizing vasculitis, nervous system disorder, polyarteritis nodosa, respiratory system disorder, skin disorder, skin vascular disease, temporal arteritis, vascular disorder, vasculitis | Recruiting | Not stated | 2026-01-22 | NCT01241305 | |
| Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others | Charcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy | Recruiting | Not stated | 2025-10-07 | NCT01193075 | |
| Safety and Durability of Sirolimus for Treatment of LAM | Hemic and Lymphatic Diseases, Neoplasm, Lymphatic Tissue, Neoplasms by Histologic Type, Neoplasms, Connective and Soft Tissue, immune system disorder, immunoproliferative disorder, lymphangioleiomyomatosis, lymphangiomyoma, lymphatic system disorder, lymphoproliferative syndrome, neoplasm, neoplasm with perivascular epithelioid cell differentiation | Recruiting | Not stated | 2024-12-24 | NCT02432560 |