Rare Diseases
Rare Diseases
Explore linked clinical trials. Standard reference: MESH:M0407933123 results · Page 1 of 5
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Genetic Analysis of Uncommon Disease Presentations in Non-US Populations | Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases | Recruiting | Not stated | 2026-10-09 | NCT06595940 | |
| Cannabidiol in Children and Young Adults With Rare Disease-associated Severe Epilepsy | Disease Attributes, Drug Resistant Epilepsy, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, brain disorder, central nervous system disorder, epilepsy, nervous system disorder | Active, not recruiting | Phase 2 | 2026-10-09 | NCT05803434 | |
| Solving Riddles Through Sequencing | Disease Attributes, Hemic and Lymphatic Diseases, Neoplasm Metastasis, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Unknown Primary, Neoplastic Processes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Unknown Primary Tumors, hematologic disorder, hematopoietic and lymphoid system neoplasm, immune system disorder, immunoproliferative disorder, leukemia, lymphatic system disorder, lymphoma, lymphoproliferative syndrome, neoplasm | Recruiting | Not stated | 2026-10-09 | NCT05046444 | |
| Longitudinal Studies of Patient With FPDMM | Disease Attributes, Hemic and Lymphatic Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, acute myeloid leukemia, hematologic disorder, hematopoietic and lymphoid system neoplasm, leukemia, myeloid leukemia, neoplasm | Recruiting | Not stated | 2026-10-09 | NCT03854318 | |
| Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s) | Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, cardiovascular disorder | Recruiting | Not stated | 2026-10-08 | NCT02543996 | |
| Diagnosis and Treatment of Patients With Inborn Errors of Metabolism | Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases | Recruiting | Not stated | 2026-10-08 | NCT00369421 | |
| Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, hereditary disease | Recruiting | Not stated | 2026-10-07 | NCT02450851 | |
| Elafibranor Pregnancy Surveillance Program: A Study to Evaluate the Safety of Elafibranor During Pregnancy | Digestive System Diseases, Disease Attributes, Fibrosis, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, bile duct disorder, biliary tract disorder, cholestasis, cirrhosis of liver, intrahepatic cholestasis, liver disorder, primary biliary cholangitis | Recruiting | Not stated | 2026-10-06 | NCT07556913 | |
| Clinical, Electrophysiological and Genetic Characteristics of Hereditary and Inflammatory Polyneuropathies in France | Charcot-Marie-Tooth disease, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, autoimmune disease, autoimmune disorder of the nervous system, central nervous system malformation, chronic inflammatory demyelinating polyradiculoneuropathy, demyelinating disease, hereditary disease, hereditary motor and sensory neuropathy, immune system disorder, inherited neurodegenerative disorder, nervous system disorder, neuritis, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, polyradiculoneuropathy | Not yet recruiting | Not stated | 2026-10-01 | NCT07851844 | |
| The Mayo Clinic Rare and Undiagnosed Disease Hackathon | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, hereditary disease | Enrolling by invitation | Not stated | 2026-10-01 | NCT07714161 | |
| Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas | Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases | Recruiting | Not applicable | 2026-10-01 | NCT07102966 | |
| Odevixibat Pregnancy and Lactation Surveillance Program: A Study to Evaluate the Safety of Odevixibat During Pregnancy and/or Lactation | Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases | Recruiting | Not stated | 2026-10-01 | NCT06258902 | |
| A Study of SGT-212 Gene Therapy in Friedreich's Ataxia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Dyskinesias, Friedreich ataxia, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Signs and Symptoms, Spinocerebellar Degenerations, atactic disorder, non-human animal, brain disorder, central nervous system disorder, cerebellar disorder, hereditary disease, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative disease, spinal cord disorder | Recruiting | Phase 1 | 2026-09-29 | NCT07180355 | |
| RAPA-501 Therapy for ALS | Disease Attributes, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, TDP-43 proteinopathy, amyotrophic lateral sclerosis, central nervous system disorder, metabolic disease, motor neuron disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, proteostasis deficiencies, spinal cord disorder | Recruiting | Phase 2 / Phase 3 | 2026-09-29 | NCT04220190 | |
| EpiSign International: Expanding Epigenomic Testing in Rare Disease | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, hereditary disease | Not yet recruiting | Not stated | 2026-09-24 | NCT07839754 | |
| A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi Arabia | Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, central nervous system disorder, motor neuron disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, spinal cord disorder, spinal muscular atrophy | Recruiting | Not stated | 2026-09-22 | NCT07737756 | |
| A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia | Bone Diseases, Metabolic, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hypophosphatemia, Familial, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Rickets, X-Linked Hypophosphatemic, Urogenital Diseases, X-linked hypophosphatemic rickets, bone disorder, calcium metabolic disease, hereditary disease, hypophosphatemia, hypophosphatemic rickets, inborn errors of metabolism, inborn metal metabolism disorder, kidney disorder, metabolic disease, musculoskeletal system disorder, nutritional deficiency disease, nutritional disorder, phosphorus metabolism disease, renal tubular transport disease, rickets, urinary system disorder, vitamin D deficiency, vitamin deficiency disorder | Recruiting | Phase 1 / Phase 2 | 2026-09-21 | NCT06525636 | |
| Eurbio-Alport (RaDiCo Cohort) (RaDiCo Eurbio-Alport) | Alport syndrome, Collagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Skin and Connective Tissue Diseases, Urogenital Abnormalities, Urogenital Diseases, connective tissue disorder, hereditary nephritis, kidney disorder, nephritis, urinary system disorder | Recruiting | Not stated | 2026-09-21 | NCT05927467 | |
| DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian Disorders | Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases | Recruiting | Not stated | 2026-09-21 | NCT05913843 | |
| Caregiving Networks Across Disease Context and the Life Course | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, diabetes mellitus, endocrine system disorder, glucose metabolism disease, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative disease | Recruiting | Not stated | 2026-09-15 | NCT05007990 | |
| Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russia | Disease Attributes, Neoplasms by Site, Paraneoplastic Syndromes, Nervous System, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, autoimmune disease, autoimmune disorder of the nervous system, immune system disorder, myasthenia gravis, neoplasm, nervous system disorder, neurodegenerative disease, neuromuscular disease, neuromuscular junction disease, paraneoplastic syndrome | Recruiting | Not stated | 2026-09-11 | NCT07247279 | |
| Real-World Effectiveness and Safety of Pegcetacoplan in Patients With C3G or IC-MPG: A Multi-Country Study | Disease Attributes, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Urogenital Diseases, glomerulonephritis, kidney disorder, nephritis, urinary system disorder | Recruiting | Phase 4 | 2026-09-09 | NCT07746895 | |
| Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, hereditary disease | Not yet recruiting | Not stated | 2026-09-02 | NCT07799792 | |
| Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Dyskinesias, Friedreich ataxia, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Signs and Symptoms, Spinocerebellar Degenerations, atactic disorder, non-human animal, brain disorder, central nervous system disorder, cerebellar disorder, hereditary disease, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, nervous system disorder, neurodegenerative disease, spinal cord disorder | Recruiting | Not stated | 2026-09-01 | NCT06016946 | |
| Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Fabry disease, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare 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 | Enrolling by invitation | Not stated | 2026-08-27 | NCT07560956 |