Clinical trials: Sanfilippo Syndrome, open to volunteers
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 III B
Safety, Tolerability and Efficacy of ICV AX 250 Treatment in MPS IIIB -OLE
This is a Phase 3B/4, multicenter, multinational, open label study to further evaluate intracerebroventricular (ICV) delivered AX 250 treatment in MPS IIIB subjects that complete Study 250-202 for up to an additional 3 years (144…
- Trial name
- NCT05492799
- Testing
- AX 250
- Where
- 6 sites in United States, Colombia and 3 more
- Volunteers
- 15 people
- Sponsor
- Allievex Corporation
Adrenoleukodystrophy, Batten Disease
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn…
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell
- Trial name
- DUOC-01 (NCT02254863)
- Testing
- DUOC-01
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Joanne Kurtzberg, MD
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 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 (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 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
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
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
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 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, 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