601 completed, 151 recruiting, 138 unknown, 82 terminated. 221 Phase 2, 192 Phase 1, 185 Phase 3, 146 Not applicable, 47 Phase 4.
Follow Lipid Metabolism, Inborn Errors: new trials by email Literature Review of Lipid Metabolism, Inborn Errors trials Research Report on Lipid Metabolism, Inborn Errors
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD Lentiviral TYF-ARSA correction of patient's autologous HSCs - Metachromatic Leukodystrophy (MLD) | Not applicable | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 10 | 2027-06-01 | 2026-09-01 |
| Direct Lentiviral Injection Gene Therapy for MLD Intrathecal and intravenous LV gene therapy - Metachromatic Leukodystrophy (MLD) | Not applicable | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 10 | 2027-05-31 | 2026-09-01 |
| A Survey to Assess Participants', Caregivers', and Nurses' Use and Understanding of Educational Material on Velaglucerase Alfa (VPRIV) Home Infusion Gaucher Disease | Not yet recruiting | Takeda | 60 | 2027-01-31 | 2026-10-01 | |
| Prenatal Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis Clinical Trial Gene Transfer with an AAV9 Vector Expressing Human ß-galactosidase - GM1 Gangliosidoses, GM1 Gangliosidosis, Type I | Phase 1 | Not yet recruiting | Tippi Mackenzie | 5 | 2027-01-01 | 2026-08-31 |
| 4SCAR-T Therapy Targeting GD2, PSMA and CD276 for Treating Neuroblastoma GD2, PSMA and CD276 CAR-T cells - Neuroblastoma | Phase 1 / Phase 2 | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 100 | 2026-12-31 | 2026-09-01 |
| Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders AZ-3102 - Niemann-Pick Disease Type C, GM2 Gangliosidosis | Phase 2 / Phase 3 | Not yet recruiting | Azafaros B.V. | 218 | 2026-12-10 | 2026-10-21 |
| Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol) PLX-200 - Lysosomal Storage Disorders, Sandhoff Disease | Phase 2 | Not yet recruiting | Polaryx Therapeutics, Inc. | 24 | 2026-12-01 | 2026-07-31 |
| Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3 PLX-200, Placebo - Juvenile Neuronal Ceroid Lipofuscinosis | Phase 3 | Withdrawn | Polaryx Therapeutics, Inc. | 2026-11-01 | 2026-08-19 | |
| Therapeutic Implications of CMR Low Native T1 in Non-treated Non-hypertrophic Females With Fabry Disease (FD) Decision tree for initiating treatment - Fabry Disease | Not applicable | Not yet recruiting | University Hospital, Bordeaux | 60 | 2026-11-01 | 2026-10-14 |
| Cascade Testing In Identifying At-risk Family Members Of Individuals With Familial Hypercholesterolemia (FH) In PCP Cascade testing, Standard of Care - Familial Hypercholesterolemia | Not applicable | Not yet recruiting | Mayo Clinic | 480 | 2026-10-20 | 2026-09-18 |
| An Observational Study to Evaluate Treatment Patterns in High, Very High and Extreme Cardiovascular Risk Patients With Hypercholesterolemia, Including Familial Hypercholesterolemia Hypercholesterolaemia, Familial Hypercholesterolaemia | Not yet recruiting | Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi) | 2500 | 2026-10-01 | 2026-08-21 | |
| Sexual Quality of Life in Female Patients With Lipodystrophy Syndromes or Turner's Syndrome: a Case-control Study Lipodystrophy Congenital Generalized, Lipodystrophy, Familial Partial | Not yet recruiting | Assistance Publique - Hôpitaux de Paris | 1416 | 2026-10-01 | 2026-09-02 | |
| Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia Zodasiran - Homozygous Familial Hypercholesterolemia | Phase 3 | Recruiting | Arrowhead Pharmaceuticals | 10 | 2026-10-01 | 2026-10-06 |
| Parkinson's Disease in Type 1 Gaucher Disease Parkinson Disease (PD), Type 1 Gaucher Disease | Recruiting | Icahn School of Medicine at Mount Sinai | 100 | 2026-10-01 | 2026-10-21 | |
| Study to Evaluate the Efficacy and Safety of Nizubaglustat (AZ-3102) in Patients With Gaucher Disease Type 3 (GD3) AZ-3102 - Gaucher Disease Type 3 | Phase 2 | Not yet recruiting | Azafaros B.V. | 20 | 2026-09-28 | 2026-07-20 |
| Nutritional Status of Gaucher Disease Patients Gaucher Disease | Not yet recruiting | Assiut University | 84 | 2026-09-26 | 2026-09-28 | |
| Study of Velaglucerase Beta ERT in Children With Gaucher Disease Velaglucerase beta - Gaucher Disease, Gaucher Disease Type 1 | Phase 3 | Not yet recruiting | CANbridge Life Sciences Ltd. | 10 | 2026-09-16 | 2026-09-29 |
| A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With Fabry Disease Lucerastat - Fabry Disease | Phase 3 | Not yet recruiting | Idorsia Pharmaceuticals Ltd. | 16 | 2026-09-01 | 2026-08-21 |
| Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF) Qualitative Interview - Fabry Disease | Enrolling by invitation | Vastra Gotaland Region | 35 | 2026-08-21 | 2026-08-27 | |
| Screening for Disorders of Lipid Metabolism and Familial Hyperlipidemia in Children and Adolescents With Increased Cardiovascular Risk Due to Chronic Diseases Such as Congenital Heart Disease, Chronic Inflammatory Bowel Disease, Celiac Disease and Rheumatic Disorders blood test, questionaire - Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors | Not applicable | Recruiting | Alexandra Miriam Kiess | 600 | 2026-08-01 | 2026-07-21 |
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Fabry Disease (243) · Hyperlipoproteinemia Type II (224) · Gaucher Disease (175) · Hypercholesterolemia (69) · Homozygous Familial Hypercholesterolemia (67) · Lecithin Cholesterol Acyltransferase Deficiency (62) · Lysosomal Storage Diseases (62) · Leukodystrophy, Metachromatic (49) · Neuronal Ceroid-Lipofuscinoses (49) · Cardiovascular Diseases (38) · Niemann-Pick Disease, Type C (37) · Metabolism, Inborn Errors (36) · Metabolic Diseases (34) · Wolman Disease (33) · Atherosclerosis (31)
Nutritional and Metabolic Diseases (1141) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (1139) · Lipid Metabolism Disorders (1116) · Genetic Diseases, Inborn (1108) · Metabolic Diseases (1108) · Metabolism, Inborn Errors (1073) · Lipidoses (625) · Nervous System Diseases (618) · Brain Diseases (572) · Central Nervous System Diseases (571) · Brain Diseases, Metabolic (565) · Brain Diseases, Metabolic, Inborn (564) · Lysosomal Storage Diseases, Nervous System (562) · Sphingolipidoses (539)
agalsidase beta (28) · migalastat (28) · agalsidase alfa (24) · Ezetimibe (19) · larazotide acetate (19) · Atorvastatin (17) · Glucosylceramidase (14) · eliglustat (14) · Rosuvastatin Calcium (13) · evolocumab (13) · imiglucerase (13) · Blood Specimen Collection (12) · ALN-PCS (11) · miglustat (11) · taliglucerase alfa (11)
Genzyme, a Sanofi Company (36) · Shire (34) · Amicus Therapeutics (29) · Sanofi (23) · National Institute of Neurological Disorders and Stroke (NINDS) (18) · Pfizer (18) · CENTOGENE GmbH Rostock (16) · Merck Sharp & Dohme LLC (16) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (15) · Organon and Co (14) · Novartis Pharmaceuticals (13) · Alexion Pharmaceuticals, Inc. (12) · IPCA Laboratories Ltd. (12) · Par Pharmaceutical, Inc. (11) · Regeneron Pharmaceuticals (11)
United States (495) · Canada (151) · United Kingdom (148) · France (137) · Germany (110) · Italy (103) · Spain (89) · Netherlands (73) · Australia (71) · China (71) · Brazil (62) · Israel (59) · Turkey (Türkiye) (57) · Belgium (46) · Czechia (46)
Forbes D Porter, M.D. (11) · Peter Bauer, Prof. (8) · Marina Cuchel, MD, PhD (7) · Ozlem Goker-Alpan, MD (7) · Paul Orchard, MD (5)
PMID 27657681, PMID 33990512, PMID 21586746, PMID 27578134, PMID 27839979, PMID 33332761, PMID 34617591, PMID 36279795, PMID 36520008, PMID 37624739, PMID 39847314, PMID 40525490, PMID 40587053, PMID 17407645, PMID 18473686, PMID 19029469, PMID 21401833, PMID 21613319, PMID 22087637, PMID 22500948, PMID 23176611, PMID 23348766, PMID 23860343, PMID 24014831, PMID 25614280, PMID 25795794, PMID 26053270, PMID 27053961, PMID 27509102, PMID 28476546, PMID 29688815, PMID 31889231, PMID 32609313, PMID 32994552, PMID 33482890, PMID 33980287, PMID 34349180, PMID 34387740, PMID 35788116, PMID 35916348, PMID 36196048, PMID 36461157, PMID 36481125, PMID 36721240, PMID 36739645, PMID 37171121, PMID 38101904, PMID 38776275, PMID 39271956, PMID 39745261
U54NS065768 (12), 2015 (9), 2017 (7), 2019 (7), 2005 (5), 2008 (5), 2016 (5), 2023 (5), 2014 (4), 2018 (4), 2025 (4), 2009 (3), K12CA120780 (1), P01HL030086 (1), P01HL059407 (1)