54 completed, 16 active not recruiting, 16 terminated, 6 unknown. 104 Phase 2, 52 Phase 1, 20 Phase 3.
Follow Mucinoses: new trials by email Literature Review of Mucinoses trials Research Report on Mucinoses
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 |
|---|---|---|---|---|---|---|
| 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 |
| Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia Infigratinib - Hypochondroplasia | Phase 2 | Enrolling by invitation | QED Therapeutics, a BridgeBio company | 135 | 2026-04-23 | 2026-08-26 |
| Study of Cannabidiol in Sanfilippo Syndrome Epidiolex, Placebo - Sanfilippo Syndrome, Mucopolysaccharidosis III | Phase 2 / Phase 3 | Recruiting | Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center | 35 | 2026-04-01 | 2026-09-15 |
| Interventional Study of Infigratinib in Children < 3 Years Old With Achondroplasia (ACH) Infigratinib is provided as a single dose of minitablets for oral administration, Infigratinib is provided as sprinkle capsules for daily oral administration, Infigratinib or placebo comparator is provided as sprinkle capsules for daily oral administration - Achondroplasia | Phase 2 | Recruiting | QED Therapeutics, a BridgeBio company | 77 | 2025-11-19 | 2026-07-13 |
| An Interventional Study of Infigratinib in Children With Hypochondroplasia infigratinib 0.128 mg/kg/day, infigratinib 0.25 mg/kg/day - Hypochondroplasia | Phase 2 / Phase 3 | Enrolling by invitation | QED Therapeutics, a BridgeBio company | 24 | 2025-04-22 | 2026-07-16 |
| An Open Label Dose Escalation Study to Assess the Safety, Tolerability, and Pharmacologic Properties of High Dose Ambroxol Hydrochloride in Adult (≥ 18 Years of Age) Subjects With MPS III Ambroxol Hydrochloride 30 mg tablet - 9 mg/kg/day, Ambroxol Hydrochloride 30 mg tablet - 18 mg/kg/day, Ambroxol Hydrochloride 30 mg tablet - 27 mg/kg/day - Sanfilippo Syndrome, MPS3 | Phase 2 / Phase 3 | Unknown | Ozlem Goker-Alpan | 10 | 2024-12-01 | 2025-08-20 |
| An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB JR-446 - Mucopolysaccharidosis III-B | Phase 1 / Phase 2 | Active not recruiting | JCR Pharmaceuticals Co., Ltd. | 10 | 2024-11-05 | 2026-10-01 |
| Extension Study of Idursulfase-IT Along With Elaprase in Children and Adults With Hunter Syndrome and Cognitive Impairment Idursulfase-IT, Elaprase - Hunter Syndrome | Phase 2 / Phase 3 | Active not recruiting | Takeda | 6 | 2024-03-05 | 2025-11-06 |
| Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A) DNL126 - Mucopolysaccharidosis Type IIIA | Phase 1 / Phase 2 | Active not recruiting | Denali Therapeutics Inc. | 20 | 2023-12-07 | 2026-07-13 |
| Phase I/II Study of JR-441 in Patients With Mucopolysaccharidosis Type IIIA JR-441 - Mucopolysaccharidosis III-A | Phase 1 / Phase 2 | Active not recruiting | JCR Pharmaceuticals Co., Ltd. | 15 | 2023-10-04 | 2026-09-04 |
| Safety and Efficacy of Voxzogo for Growth Deficits in MPS IVA and VI Vosoritide Injection [Voxzogo] - MPS IVA, MPS VI | Phase 1 / Phase 2 | Active not recruiting | University of California, San Francisco | 6 | 2023-09-25 | 2026-03-10 |
| An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007 tividenofusp alfa - Mucopolysaccharidosis II | Phase 2 / Phase 3 | Enrolling by invitation | Denali Therapeutics Inc. | 99 | 2023-09-20 | 2026-10-27 |
| Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis Type II Autologous CD34+ HSCs transduced ex vivo with CD11B LV encoding human IDS tagged with ApoEII - Mucopolysaccharidosis II | Phase 1 / Phase 2 | Active not recruiting | University of Manchester | 5 | 2023-06-01 | 2026-03-27 |
| A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II) tividenofusp alfa, idursulfase - Mucopolysaccharidosis II | Phase 2 / Phase 3 | Active not recruiting | Denali Therapeutics Inc. | 65 | 2022-07-21 | 2026-09-09 |
| Continuation Study of Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Recifercept in Achondroplasia Recifercept - Achondroplasia | Phase 2 | Terminated | Pfizer | 35 | 2021-12-24 | 2024-02-08 |
| Extension Study of Infigratinib in Children With Achondroplasia (ACH) Infigratinib - Achondroplasia | Phase 2 | Enrolling by invitation | QED Therapeutics, a BridgeBio company | 325 | 2021-12-06 | 2026-10-26 |
| A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II GNR-055 1.0-2.0-3.0 mg/kg, GNR-055 2.0 mg/kg, GNR-055 3.0 mg/kg - Mucopolysaccharidosis Type II, Metabolic Diseases | Phase 2 / Phase 3 | Active not recruiting | AO GENERIUM | 32 | 2021-11-30 | 2026-09-21 |
| Safety and Efficacy of Encapsulated Allogeneic MPS-1 Therapy SIG-005 (hIDUA Producing Spheres) - MPS I, MPS1-S | Phase 1 / Phase 2 | Withdrawn | Sigilon Therapeutics, Inc. | 2021-11-15 | 2023-04-11 | |
| An Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type I (MPS I) JR-171 - Mucopolysaccharidosis I | Phase 1 / Phase 2 | Completed | JCR Pharmaceuticals Co., Ltd. | 14 | 2021-10-28 | 2025-08-28 |
| RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome) RGX-121 - Mucopolysaccharidosis Type II (MPS II) | Phase 1 / Phase 2 | Completed | REGENXBIO Inc. | 6 | 2021-03-11 | 2025-01-28 |
Showing 20 of 104. Sign in to see all of them.
Mucopolysaccharidosis II (31) · Mucopolysaccharidosis III (27) · Mucopolysaccharidosis I (25) · Mucopolysaccharidosis IV (20) · Lysosomal Storage Diseases (19) · Sudden Infant Death (16) · Mucopolysaccharidoses (13) · Mucopolysaccharidosis VI (12) · Genetic Diseases, Inborn (11) · Leukodystrophy, Metachromatic (8) · Leukodystrophy, Globoid Cell (7) · Metabolic Diseases (7) · Bone Diseases (6) · Dwarfism (6) · Metabolism, Inborn Errors (6)
Skin and Connective Tissue Diseases (103) · Connective Tissue Diseases (101) · Nutritional and Metabolic Diseases (100) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (99) · Carbohydrate Metabolism, Inborn Errors (98) · Metabolism, Inborn Errors (94) · Metabolic Diseases (93) · Genetic Diseases, Inborn (89) · Mucopolysaccharidoses (87) · Lysosomal Storage Diseases (81) · Nervous System Diseases (42) · Neurologic Manifestations (35) · Genetic Diseases, X-Linked (33) · Heredodegenerative Disorders, Nervous System (32)
Stem Cell Transplantation (7) · idursulfase (7) · GALNS protein, human (5) · infigratinib (5) · Alemtuzumab (4) · Cyclophosphamide (4) · Busulfan (3) · Chondroitinases and Chondroitin Lyases (3) · Enzyme Replacement Therapy (3) · Galns protein, mouse (3) · Iduronidase (3) · Sulfatases (3) · Adalimumab (2) · Bone Marrow Transplantation (2) · Cyclosporine (2)
JCR Pharmaceuticals Co., Ltd. (9) · Shire (9) · BioMarin Pharmaceutical (6) · Masonic Cancer Center, University of Minnesota (6) · QED Therapeutics, a BridgeBio company (5) · Denali Therapeutics Inc. (4) · Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center (4) · Ultragenyx Pharmaceutical Inc (4) · LYSOGENE (3) · REGENXBIO Inc. (3) · Alexion Pharmaceuticals, Inc. (2) · Allievex Corporation (2) · ArmaGen, Inc (2) · Genzyme, a Sanofi Company (2) · Green Cross Corporation (2)
United States (63) · United Kingdom (34) · France (22) · Spain (21) · Canada (18) · Germany (17) · Brazil (15) · Italy (12) · Australia (11) · Netherlands (10) · Japan (8) · Turkey (Türkiye) (7) · Portugal (6) · Belgium (5) · Norway (5)
Paul Orchard, MD (5) · Celeste Decker, MD (2) · Dugald Seely, ND (2) · Patrice P Rioux, MD PhD (2) · Paul Harmatz, MD (2) · Robert Wynn (2) · Abdul Basit, MBBS, FCPS (1) · Adam Shaywitz, MD PhD (1) · Alidad Ghiassi, MD (1)
PMID 21586746, PMID 22547151, PMID 25421091, PMID 29526614, PMID 29976218, PMID 30467742, PMID 32884151, PMID 35835061, PMID 35961250, PMID 36299240, PMID 37915038, PMID 21150784, PMID 21419704, PMID 22929184, PMID 23497636, PMID 23837440, PMID 25323764, PMID 26331768, PMID 27211612, PMID 28119821, PMID 28405611, PMID 29159458, PMID 30528227, PMID 30595526, PMID 31719214, PMID 32278382, PMID 32583902, PMID 32634238, PMID 32750127, PMID 33874971, PMID 34040605, PMID 34600820, PMID 35331634, PMID 35342457, PMID 35588317, PMID 35709957, PMID 36027721, PMID 36413418, PMID 36799346, PMID 37415957, PMID 37624739, PMID 38204164, PMID 38319253, PMID 38685585, PMID 38907160, PMID 39547230, PMID 39555818, PMID 40786127, PMID 41467650
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