contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Explore linked clinical trials. Standard reference: MONDO:00083383 results ยท Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| HoFH, the International Clinical Collaborators Registry | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Hypercholesterolemia, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, familial hypercholesterolemia, hereditary disease, homozygous familial hypercholesterolemia, hyperlipidemia, hyperlipoproteinemia, hyperlipoproteinemia type 3, inborn errors of metabolism, metabolic disease | Recruiting | Not stated | 2025-12-18 | NCT04815005 | |
| Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Leigh syndrome, Nutritional and Metabolic Diseases, Pyruvate Metabolism, Inborn Errors, brain disorder, central nervous system disorder, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, metabolic disease, nervous system disorder | Recruiting | Not stated | 2025-05-13 | NCT06967831 | |
| A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, congenital stationary night blindness autosomal dominant 1, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, eye disorder, hereditary disease, inherited retinal dystrophy, nervous system disorder, retinal degeneration, retinal disorder, retinitis, retinitis pigmentosa, vision disorder | Active, not recruiting | Phase 1 / Phase 2 | 2022-05-06 | NCT04123626 |