Clinical trials: Mucopolysaccharidosis III
Mucopolysaccharidosis Type IIIB, MPS IIIB (Sanfilippo B Syndrome)
Early Access Treatment With Tralesinidase Alfa in Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B)
This is an intermediate-size patient population Early Access Program (EAP) providing access to intracerebroventricular (ICV) tralesinidase alfa (TA) for participants with mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo…
- Trial name
- EAP (NCT07733856)
- Testing
- Tralesinidase alfa (TA)
- Where
- United States
- Sponsor
- Spruce Biosciences
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
Mucopolysaccharidosis III-B
An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB
A Phase I/ II, open-label study, designed to evaluate the safety and explore efficacy of the study drug in development for the treatment of MPS IIIB patients.
- Trial name
- NCT06488924
- Testing
- JR-446
- Where
- 4 sites in Japan
- Volunteers
- 10 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
MPS IIIA, Sanfilippo Syndrome
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
The main objective of this study is to evaluate the efficacy and safety of UX111 for the treatment of MPS IIIA.
- Conditions
- MPS IIIA, Sanfilippo Syndrome, Sanfilippo A, Mucopolysaccharidosis III
- Trial name
- NCT02716246
- Testing
- UX111, Prophylactic Immunomodulatory (IM) Therapy, Optimized Prophylactic IM Therapy
- Where
- 5 sites in United States, Australia and 1 more
- Volunteers
- 36 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
MPS IIIB
Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B)
The primary objectives of this study are to evaluate the effects of Tralesinidase Alfa (TA) on cognition
- Trial name
- TrAnsform (NCT07579910)
- Testing
- Tralesinidase alfa (TA)
- Volunteers
- 14 people
- Sponsor
- Spruce Biosciences
Sanfilippo Syndrome, Mucopolysaccharidosis III
Study of Cannabidiol in Sanfilippo Syndrome
The goal of this clinical trial is to test cannabidiol in Sanfilippo syndrome. The main questions it aims to answer are: 1) determine the safety of cannabidiol in Sanfilippo syndrome, and 2) explore the efficacy of cannabidiol in…
- Trial name
- NCT06333041
- Testing
- Epidiolex
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
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 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
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.
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Mucopolysaccharidosis IIIA, MPS IIIA
Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIA
The main objective of this study is to evaluate the safety/tolerability and efficacy of UX111 (previously known as ABO-102) in participants with Mucopolysaccharidosis IIIA (MPS IIIA).
- Conditions
- Mucopolysaccharidosis IIIA, MPS IIIA, Sanfilippo Syndrome, Sanfilippo A
- Trial name
- NCT04360265
- Testing
- No Investigational Product, Adjuvant Immunomodulatory (IM) Therapy
- Where
- 4 sites in United States, Australia and 1 more
- Volunteers
- 41 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
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
- Where
- 4 sites in United States
- Volunteers
- 20 people
- Sponsor
- Denali Therapeutics Inc.
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Sanfilippo Syndrome Type C
Natural History Study of Participants With Sanfilippo Syndrome Type IIIC
This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
- Trial name
- MPSIIIC (NCT05825131)
- Where
- 2 sites in United States, France
- Volunteers
- 30 people
- Sponsor
- Phoenix Nest
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
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
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
Sanfilippo Syndrome Type D
A Natural History Study of Sanfilippo Syndrome Type D
Sanfilippo syndrome type D is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young…
- Trial name
- MPSIIID (NCT05648851)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Phoenix Nest
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