Brain Diseases, Metabolic, Inborn: Clinical Trials

629 completed, 203 recruiting, 129 unknown, 102 terminated. 265 Phase 2, 198 Phase 1, 188 Not applicable, 143 Phase 3, 63 Phase 4.

By phase and status

Phase	Trials	Status
Phase 2	265	Completed 145, Terminated 33, Recruiting 22, Active not recruiting 19, Withdrawn 18, Not yet recruiting 12, Unknown 10, Suspended 4, Enrolling by invitation 2
Phase 1	198	Completed 99, Recruiting 27, Terminated 25, Active not recruiting 17, Withdrawn 10, Not yet recruiting 9, Unknown 6, Suspended 3, Enrolling by invitation 2
Not applicable	188	Completed 108, Recruiting 26, Unknown 26, Terminated 10, Not yet recruiting 9, Active not recruiting 6, Withdrawn 2, Enrolling by invitation 1
Phase 3	143	Completed 87, Terminated 17, Active not recruiting 14, Recruiting 13, Unknown 4, Withdrawn 4, Not yet recruiting 3, Enrolling by invitation 1
Phase 4	63	Completed 38, Unknown 7, Terminated 5, Active not recruiting 4, Recruiting 4, Withdrawn 4, Not yet recruiting 1
Early Phase 1	16	Completed 4, Recruiting 4, Active not recruiting 2, Not yet recruiting 2, Terminated 2, Unknown 2

Follow Brain Diseases, Metabolic, Inborn: new trials by email Literature Review of Brain Diseases, Metabolic, Inborn trials Research Report on Brain Diseases, Metabolic, Inborn

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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
To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria GS1168 injection - Phenylketonuria (PKU)	Early Phase 1	Not yet recruiting	Gritgen Therapeutics Co., Ltd.	9	2027-12-31	2026-09-10
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
IT and IV Lentiviral Gene Therapy for X-ALD Intrathecal and intravenous LV gene therapy - X-linked Adrenoleukodystrophy	Not applicable	Not yet recruiting	Shenzhen Geno-Immune Medical Institute	30	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 Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus) Glycerol Tributyrate - MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)	Phase 1 / Phase 2	Not yet recruiting	George Washington University	24	2027-03-01	2026-10-05
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
Outside the Cage (OTC) Robotic Esophagectomy OTC MIE Esophagectomy - Esophageal Cancer	Phase 1	Not yet recruiting	Centre hospitalier de l'Université de Montréal (CHUM)	31	2027-01-01	2026-03-18
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
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD) S-606001, ERT - Pompe Disease	Phase 2	Not yet recruiting	Shionogi	60	2026-11-02	2026-10-13
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
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT) Antiphospholipid (aPL)-Positive, Rheumatic Arthritis		Not yet recruiting	Axiom Bioregistry	5000	2026-10-18	2026-10-23
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU Slow release, phenylalanine-free protein substitute tablets - Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn	Not applicable	Not yet recruiting	metaX Institut fuer Diatetik GmbH	10	2026-10-15	2026-10-15
PKU Microtablets Case Studies PKU Microtablet protein substitute - Phenylketonuria (PKU)	Not applicable	Not yet recruiting	Nutricia UK Ltd	20	2026-10-01	2026-09-23
A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS) TTI-0102: cysteamine-pantetheine disulfide, D-Mannitol - Leigh Syndrome	Phase 2	Not yet recruiting	Thiogenesis Therapeutics, Inc.	18	2026-10-01	2026-07-24
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
A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD) S-606001 - Pompe Disease	Phase 1	Not yet recruiting	Shionogi	15	2026-09-30	2026-08-26
Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD KRRO-121, Placebo - Urea Cycle Disorders, Inborn, Urea Cycle Disorders	Phase 1 / Phase 2	Recruiting	Korro Bio, Inc.	30	2026-09-28	2026-10-08

Showing 20 of 1280. Sign in to see all of them.

Narrower conditions

Fabry Disease (243)  ·  Phenylketonurias (188)  ·  Gaucher Disease (175)  ·  Glycogen Storage Disease Type II (147)  ·  Hepatolenticular Degeneration (79)  ·  Urea Cycle Disorders, Inborn (66)  ·  Lysosomal Storage Diseases (63)  ·  Adrenoleukodystrophy (62)  ·  Ornithine Carbamoyltransferase Deficiency Disease (59)  ·  Metabolism, Inborn Errors (54)  ·  Leukodystrophy, Metachromatic (49)  ·  Rare Diseases (41)  ·  MELAS Syndrome (37)  ·  Niemann-Pick Disease, Type C (37)  ·  Metabolic Diseases (33)

Broader conditions

Congenital, Hereditary, and Neonatal Diseases and Abnormalities (1278)  ·  Nutritional and Metabolic Diseases (1277)  ·  Brain Diseases, Metabolic (1271)  ·  Brain Diseases (1270)  ·  Nervous System Diseases (1269)  ·  Central Nervous System Diseases (1268)  ·  Genetic Diseases, Inborn (1255)  ·  Metabolic Diseases (1247)  ·  Metabolism, Inborn Errors (1226)  ·  Lysosomal Storage Diseases, Nervous System (708)  ·  Lysosomal Storage Diseases (648)  ·  Lipid Metabolism, Inborn Errors (564)  ·  Lipid Metabolism Disorders (562)  ·  Lipidoses (557)

Interventions

sapropterin (37)  ·  GAA protein, human (36)  ·  agalsidase beta (28)  ·  migalastat (28)  ·  agalsidase alfa (24)  ·  larazotide acetate (19)  ·  miglustat (18)  ·  Blood Specimen Collection (17)  ·  pegvaliase (16)  ·  Glucosylceramidase (14)  ·  eliglustat (14)  ·  imiglucerase (13)  ·  glycerol phenylbutyrate (11)  ·  taliglucerase alfa (11)  ·  2-Hydroxypropyl-beta-cyclodextrin (9)

Sponsors

Genzyme, a Sanofi Company (67)  ·  Amicus Therapeutics (38)  ·  BioMarin Pharmaceutical (38)  ·  Shire (34)  ·  Sanofi (27)  ·  National Institute of Neurological Disorders and Stroke (NINDS) (19)  ·  CENTOGENE GmbH Rostock (18)  ·  Assistance Publique - Hôpitaux de Paris (17)  ·  National Taiwan University Hospital (17)  ·  Duke University (14)  ·  Alexion Pharmaceuticals, Inc. (13)  ·  National Center for Research Resources (NCRR) (13)  ·  Vitaflo International, Ltd (13)  ·  Amgen (12)  ·  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (12)

Countries

United States (624)  ·  United Kingdom (214)  ·  France (181)  ·  Germany (162)  ·  Italy (126)  ·  Canada (116)  ·  Spain (105)  ·  Australia (83)  ·  China (75)  ·  Netherlands (72)  ·  Denmark (55)  ·  Brazil (53)  ·  Belgium (52)  ·  Israel (51)  ·  Poland (50)

Top investigators

Peter Bauer, Prof. (9)  ·  Anita MacDonald (8)  ·  Ozlem Goker-Alpan, MD (8)  ·  Paul Orchard, MD (7)  ·  Forbes D Porter, M.D. (6)  ·  Joanne Kurtzberg, MD (5)  ·  Michio Hirano, MD (5)

Results publications

PMID 27657681, PMID 19775921, PMID 24144944, PMID 21586746, PMID 22961727, PMID 27839979, PMID 32593547, PMID 33332761, PMID 36279795, PMID 37624739, PMID 39383458, PMID 39847314, PMID 40411344, PMID 40525490, PMID 41631150, PMID 20188616, PMID 21637107, PMID 23176611, PMID 23860343, PMID 25795794, PMID 26053270, PMID 27509102, PMID 28465125, PMID 28476546, PMID 31303277, PMID 31889231, PMID 32994552, PMID 33325055, PMID 33482890, PMID 34349180, PMID 34387740, PMID 34826353, PMID 36196048, PMID 36481125, PMID 36739645, PMID 39383459, PMID 39774103, PMID 40155993, PMID 40267426, PMID 40817303, PMID 41527340, PMID 41989430, PMID 10665494, PMID 11231629, PMID 11399225, PMID 12050336, PMID 12064356, PMID 12141594, PMID 12736767, PMID 14523139

NIH funding

U54NS065768 (11), 2019 (10), 2018 (9), 2015 (7), 2025 (7), 2009 (5), 2014 (5), 2023 (5), 2008 (4), U54NS078059 (4), 2016 (3), 2017 (3), U54HD061221 (3), 2005 (2), P01HD032062 (2)