Metabolism, Inborn Errors: Clinical Trials

1835 completed, 477 recruiting, 391 unknown, 219 terminated. 716 Phase 2, 572 Not applicable, 532 Phase 1, 449 Phase 3, 175 Phase 4.

By phase and status

Phase	Trials	Status
Phase 2	716	Completed 419, Terminated 76, Recruiting 61, Active not recruiting 48, Unknown 39, Withdrawn 33, Not yet recruiting 23, Enrolling by invitation 11, Suspended 6
Not applicable	572	Completed 323, Unknown 93, Recruiting 69, Not yet recruiting 29, Active not recruiting 21, Terminated 18, Withdrawn 11, Enrolling by invitation 7, Suspended 1
Phase 1	532	Completed 326, Recruiting 61, Terminated 49, Active not recruiting 35, Unknown 18, Withdrawn 18, Not yet recruiting 16, Enrolling by invitation 5, Suspended 4
Phase 3	449	Completed 298, Active not recruiting 35, Recruiting 33, Terminated 32, Unknown 21, Withdrawn 13, Not yet recruiting 11, Enrolling by invitation 6
Phase 4	175	Completed 105, Recruiting 20, Unknown 19, Terminated 13, Withdrawn 9, Active not recruiting 4, Not yet recruiting 4, Enrolling by invitation 1
Early Phase 1	41	Completed 15, Recruiting 9, Unknown 6, Terminated 5, Active not recruiting 3, Not yet recruiting 3

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Trials newest first · largest first

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 Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP) garetosmab - Fibrodysplasia Ossificans Progressiva, FOP	Phase 3	Not yet recruiting	Regeneron Pharmaceuticals	18	2027-02-02	2026-10-20
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
Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB rAAV9-CMV-hNAGLUop - Sanfilippo Syndrome (MPS III)	Phase 1 / Phase 2	Not yet recruiting	NeuroGT	9	2027-01-18	2026-09-14
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
Development of Healthcare Transition for Patients With Congenital Adrenal Hyperplasia exposure to healthcare transition protocol - Congenital Adrenal Hyperplasia		Not yet recruiting	University of Alabama at Birmingham	40	2027-01-01	2026-10-14
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
Efficacy, Safety, Tolerability, and Pharmacokinetics of NBIP-01435 in Adult Participants With Classic Congenital Adrenal Hyperplasia (CAH) NBIP-01435 - Congenital Adrenal Hyperplasia	Phase 2	Not yet recruiting	Neurocrine Biosciences	36	2026-12-01	2026-09-30
Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B) Tralesinidase alfa (TA) - MPS IIIB	Phase 3	Not yet recruiting	Spruce Biosciences	14	2026-12-01	2026-09-21
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
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
MPS IIIA Disease Monitoring Program No Intervention - MPS IIIA, Sanfilippo Syndrome		Not yet recruiting	Ultragenyx Pharmaceutical Inc	55	2026-11-01	2026-10-02
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

Showing 20 of 3427. Sign in to see all of them.

Narrower conditions

Gout (307)  ·  Fabry Disease (243)  ·  Hyperlipoproteinemia Type II (225)  ·  Phenylketonurias (188)  ·  Amyloid Neuropathies, Familial (186)  ·  Gaucher Disease (175)  ·  Glycogen Storage Disease Type II (147)  ·  Lysosomal Storage Diseases (123)  ·  Mucopolysaccharidosis IV (101)  ·  Adrenal Hyperplasia, Congenital (99)  ·  Hyperuricemia (98)  ·  Rare Diseases (94)  ·  Genetic Diseases, Inborn (93)  ·  Metabolic Diseases (93)

Broader conditions

Nutritional and Metabolic Diseases (3421)  ·  Congenital, Hereditary, and Neonatal Diseases and Abnormalities (3420)  ·  Genetic Diseases, Inborn (3334)  ·  Metabolic Diseases (3333)  ·  Nervous System Diseases (1663)  ·  Central Nervous System Diseases (1339)  ·  Brain Diseases (1333)  ·  Brain Diseases, Metabolic (1271)  ·  Brain Diseases, Metabolic, Inborn (1266)  ·  Lipid Metabolism Disorders (1103)  ·  Lipid Metabolism, Inborn Errors (1086)  ·  Lysosomal Storage Diseases (957)  ·  Carbohydrate Metabolism, Inborn Errors (730)  ·  Lysosomal Storage Diseases, Nervous System (708)

Interventions

Febuxostat (46)  ·  Allopurinol (45)  ·  Ganciclovir (44)  ·  sapropterin (37)  ·  GAA protein, human (36)  ·  Blood Specimen Collection (32)  ·  Colchicine (31)  ·  agalsidase beta (28)  ·  migalastat (28)  ·  agalsidase alfa (24)  ·  Ezetimibe (20)  ·  burosumab (20)  ·  larazotide acetate (19)  ·  Iduronidase (18)  ·  miglustat (18)

Sponsors

Genzyme, a Sanofi Company (79)  ·  BioMarin Pharmaceutical (60)  ·  Shire (55)  ·  Alexion Pharmaceuticals, Inc. (51)  ·  Assistance Publique - Hôpitaux de Paris (44)  ·  Amicus Therapeutics (38)  ·  CENTOGENE GmbH Rostock (34)  ·  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (34)  ·  Novartis Pharmaceuticals (34)  ·  National Center for Research Resources (NCRR) (33)  ·  Takeda (31)  ·  Amgen (29)  ·  Pfizer (28)  ·  Sanofi (28)  ·  National Human Genome Research Institute (NHGRI) (27)

Countries

United States (1575)  ·  France (471)  ·  United Kingdom (470)  ·  Germany (364)  ·  Canada (337)  ·  Italy (297)  ·  Spain (257)  ·  Netherlands (214)  ·  China (187)  ·  Australia (184)  ·  Brazil (154)  ·  Belgium (130)  ·  Denmark (123)  ·  Turkey (Türkiye) (121)  ·  Taiwan (112)

Top investigators

Peter Bauer, Prof. (20)  ·  Forbes D Porter, M.D. (12)  ·  Ozlem Goker-Alpan, MD (10)  ·  Paul Orchard, MD (10)  ·  Anita MacDonald (8)

Results publications

PMID 33874971, PMID 39151033, PMID 27657681, PMID 19775921, PMID 24144944, PMID 26529632, PMID 33990512, PMID 35835008, PMID 37624739, PMID 40601241, PMID 21353107, PMID 21586746, PMID 22052584, PMID 22961727, PMID 24122883, PMID 25803389, PMID 27578134, PMID 27839979, PMID 30467742, PMID 32417537, PMID 32593547, PMID 32721016, PMID 32762706, PMID 33332761, PMID 33527139, PMID 34617591, PMID 35709957, PMID 36279795, PMID 36520008, PMID 37415957, PMID 39383458, PMID 39847314, PMID 40193200, PMID 40411344, PMID 40525490, PMID 40587053, PMID 40962182, PMID 41388232, PMID 41631150, PMID 42389794, PMID 16911575, PMID 17407645, PMID 18473686, PMID 18600509, PMID 19029469, PMID 20188616, PMID 20393176, PMID 21401833, PMID 21613319, PMID 21637107

NIH funding

2023 (24), 2018 (20), 2015 (19), U54NS065768 (19), 2019 (18), 2014 (14), 2016 (14), 2017 (13), 2025 (13), 2008 (8), 2009 (7), 2005 (6), U54DK083908 (4), U54NS078059 (4), U54HD061221 (3)