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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Single and Multiple Dose Study to Evaluate Safety and Pharmacokinetics of BMS-986533 in Healthy Participants and Assessments of Food and pH Effects on Relative Bioavailability, and Drug-Drug Interaction Potential in Healthy ParticipantsCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Lecithin Cholesterol Acyltransferase Deficiency, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, hereditary disease, hypoalphalipoproteinemia, hypolipoproteinemia, inborn errors of metabolism, metabolic diseaseRecruitingPhase 12026-07-24NCT07629999
Inherited Retinal Degenerative Disease RegistryAbnormalities, Multiple, Bardet-Biedl syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Chronic Disease, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Disease Attributes, Dyslipidemias, Ear Diseases, Eye Diseases, Hereditary, Goldmann-Favre syndrome, Hearing Loss, Sensorineural, Juvenile Macular Degeneration, Kearns-Sayre syndrome, Leber congenital amaurosis, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neurologic Manifestations, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Rod-Cone Dystrophy, Sensation Disorders, Signs and Symptoms, Stargardt disease, Usher syndrome, X-linked disease, abetalipoproteinemia, achromatopsia, achromatopsia 3, adult Refsum disease, blindness (disorder), brain disorder, cardiomyopathy, cardiovascular disorder, central areolar choroidal dystrophy, central nervous system disorder, central nervous system malformation, choroideremia, color vision disorder, cone dystrophy, cone-rod dystrophy, congenital stationary night blindness, cranial nerve neuropathy, enhanced S-cone syndrome, eye disorder, fundus albipunctatus, hearing disorder, hearing loss disorder, heart disorder, hereditary disease, hereditary motor and sensory neuropathy, hypobetalipoproteinemia, hypolipoproteinemia, hypothalamic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inherited neurodegenerative disorder, inherited retinal dystrophy, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, macular degeneration, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, ophthalmoplegia, optic choroid disorder, ornithine aminotransferase deficiency, otorhinolaryngologic disease, palsy, peripheral nervous system disorder, polyneuropathy, progressive external ophthalmoplegia, retinal degeneration, retinal disorder, retinitis pigmentosa, retinitis punctata albescens, retinoschisis, uveal disorder, vision disorder, vitelliform macular dystrophyRecruitingNot stated2026-05-19NCT02435940
LCAT (Lecithin Cholesterol Acyl Transferase) Natural History StudyCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Lecithin Cholesterol Acyltransferase Deficiency, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Diseases, cardiovascular disorder, hereditary disease, hypoalphalipoproteinemia, hypolipoproteinemia, inborn errors of metabolism, kidney disorder, metabolic disease, urinary system disorderRecruitingNot stated2026-05-06NCT06217588
HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol MetabolismCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, cardiovascular disorder, hereditary disease, hypobetalipoproteinemia, hypolipoproteinemia, inborn errors of metabolism, metabolic diseaseActive, not recruitingNot applicable2026-04-29NCT02354079
Atlantic Lipid Lowering Treatment Optimization ProgramCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyslipidemias, Hyperlipoproteinemia Type IIb, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia, Nutritional and Metabolic Diseases, familial hypercholesterolemia, hereditary disease, hyperlipidemia, hyperlipoproteinemia, hypoalphalipoproteinemia, hypolipoproteinemia, inborn errors of metabolism, metabolic diseaseRecruitingNot applicable2025-08-03NCT06439654