Clinical trials: Mucopolysaccharidosis III
Mucopolysaccharidosis II
A Study of JR-141 in Patients With Mucopolysaccharidosis II
A Phase II/ III multicenter, open-label, single-group, designed to evaluate the efficacy and safety of study drug for the treatment of the MPS II.
- Trial name
- NCT03568175
- Testing
- JR-141
- Where
- 19 sites in Japan
- Volunteers
- 28 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Sanfilippo Syndrome (MPS III)
Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB
The goal of this clinical trial is to learn if one infusion of rAAV9-CMV-hNAGLUop can treat patients with Sanfilippo syndrome (MPS III) 6 months or older.
- Trial name
- NCT07818759
- Testing
- rAAV9-CMV-hNAGLUop
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- NeuroGT
Sanfilippo Syndrome, MPS3
The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)
The natural history study of patients with Sanfilippo disease(s) (MPS3)
- Trial name
- NCT05705674
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Sanfilippo Syndrome, MPS3
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
A dose escalation study to evaluate the safety, tolerability, and pharmacologic properties of Ambroxol in adult participants with Sanfilippo disease(s) (MPS3).
- Trial name
- NCT06614894
- Testing
- 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
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Ozlem Goker-Alpan
Mucopolysaccharidosis Type IIIA
Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)
This is a multicenter, open-label, Phase 1/2 study to assess the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and clinical efficacy of DNL126 in participants with Sanfilippo syndrome Type A (MPS IIIA).
- Trial name
- NCT06181136
- Testing
- DNL126, Prophylactic immunomodulatory therapy
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Denali Therapeutics Inc.
MPS IIIB (Sanfilippo B Syndrome)
Natural History Study to Characterise the Course of Disease Progression in Participants With Mucopolysaccharidosis Type IIIB
The objectives of this study are to describe the clinical and biochemical characteristics and course of disease progression in participants with Mucopolysaccharidosis type IIIB (MPS IIIB)
- Trial name
- NCT02293408
- Where
- 7 sites in United States, Brazil and 4 more
- Volunteers
- 30 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Mucopolysaccharidosis I, Mucopolysaccharidosis II
MPS (RaDiCo Cohort) (RaDiCo-MPS)
The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV
- Trial name
- NCT06036693
- Where
- 23 sites in France
- Volunteers
- 1,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Mucopolysaccharidosis III-A
Phase I/II Study of JR-441 in Patients With Mucopolysaccharidosis Type IIIA
A Phase I/ II, open-label, randomized, 2-arm study, designed to evaluate the safety and explore efficacy of the study drug in development for the treatment of MPS IIIA patients.
- Trial name
- NCT06095388
- Testing
- JR-441
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Mucopolysaccharidosis Type IIIA
Gene Therapy with Modified Autologous Hematopoietic Stem Cells for Patients with Mucopolysaccharidosis Type IIIA
Patients with MPS IIIA have a clinical disorder marked by severe and progressive brain disease and neurological symptoms due to the accumulation of undigested glycosaminoglycans in all cells of the body.
- Trial name
- NCT04201405
- Testing
- Autologous CD34+ cells transduced with a lentiviral vector containing the human SGSH gene
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- University of Manchester
MLD, Krabbe Disease
Longitudinal Study of Neurodegenerative Disorders
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the…
- Conditions
- MLD, Krabbe Disease, ALD, MPS I
- Trial name
- NCT03333200
- Testing
- Palliative Care, Hematopoetic Stem Cell Transplantation
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- University of Pittsburgh
Inherited Metabolic Diseases, Lysosomal Storage Disorders
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease.
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism
- Trial name
- UCBT-002 (NCT00654433)
- Testing
- ALD-101
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- Aldagen
Sanfilippo Syndrome Type A
Phase 1 Study of GC1130A in Patients With Sanfilippo Syndrome Type A (MPS IIIA)
The purpose of this study is to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of recombinant human heparan N-sulfatase (rhHNS, GC1130A) administered via intracerebroventricular access device…
- Trial name
- NCT06567769
- Testing
- GC1130A
- Where
- 4 sites in United States, South Korea
- Volunteers
- 9 people
- Sponsor
- GC Biopharma Corp
Sanfilippo Syndrome Type A (MPS IIIA)
A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients
MPS IIIA, also known as Sanfilippo A, is an inherited lysosomal storage disease (LSD). MPS IIIA is caused by a deficiency in sulfamidase, one of the enzymes involved in the lysosomal degradation of the glycosaminoglycan (GAG)…
- Trial name
- NCT03423186
- Testing
- SOBI003
- Where
- 4 sites in United States, Germany and 1 more
- Volunteers
- 6 people
- Sponsor
- Swedish Orphan Biovitrum
Lysosomal Storage Diseases
Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders
The purpose of this study is to evaluate the effect of small molecule therapy in primary cells derived from patients with lysosomal storage disease.
- Trial name
- NCT03812055
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Sanfilippo Syndrome Type B
Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)
The purpose of this study is to evaluate the natural course of disease progression in Mucopolysaccharidosis Type III (MPS IIIB) patients who are untreated to identify potential surrogate endpoints that may be utilized in future…
- Trial name
- NCT01509768
- Where
- 4 sites in United States, Germany and 1 more
- Volunteers
- 19 people
- Sponsor
- Shire
Sanfilippo Syndrome Type A
A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)
The purpose is to evaluate the course of disease progression in MPS IIIA patients who are untreated to identify potential surrogate endpoints that may be utilized in future ERT trials of MPS IIIA via defined assessments including…
- Trial name
- NCT01047306
- Testing
- assessment
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Shire
Mucopolysaccharidosis Type 3 B
Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB
Open-label, dose-escalation clinical trial of rAAV9.CMV.hNAGLU injected intravenously through a peripheral limb vein
- Trial name
- MPSIIIB (NCT03315182)
- Testing
- rAAV9.CMV.hNAGLU
- Where
- 4 sites in United States, France and 2 more
- Volunteers
- 11 people
- Sponsor
- Abeona Therapeutics, Inc
MPS IIIA, Sanfilippo Syndrome
MPS IIIA Disease Monitoring Program
The main objective of this observational study is to evaluate the long-term safety and effectiveness of rebisufligene etisparvovec for 10 years after rebisufligene etisparvovec administration.
- Conditions
- MPS IIIA, Sanfilippo Syndrome, Sanfilippo A, Mucopolysaccharidosis III
- Trial name
- NCT07855562
- Testing
- No Intervention
- Volunteers
- 55 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Sanfilippo Syndrome Type C, Mucopolysaccharidosis (MPS) IIIC
Natural History to Assess Disease in Patients With MPS IIIC
This is a REMOTE prospective observational study of participants with MPS IIIC. No investigational medicinal product will be administered as part of this study.
- Trial name
- C-RARE (NCT07712003)
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Phoenix Nest
Sanfilippo Syndrome Type A, Sanfilippo Syndrome Type B
Neurobehavioral Phenotypes in MPS III
Hypothesis #1: Factor analysis of the revised Sanfilippo Behavior Rating Scale (SBRS) will identify a group of externalizing behaviors and a group of Klüver-Bucy syndrome-like behaviors as two different factors that are at least…
- Conditions
- Sanfilippo Syndrome Type A, Sanfilippo Syndrome Type B, Hurler Syndrome
- Trial name
- NCT01873911
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of Minnesota