Clinical trials: Sanfilippo Syndrome
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 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.
Mucopolysaccharidosis Type IIIA
Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)
MPS IIIA is predominantly a central nervous system disease causing cognitive disability, progressive loss of acquired skills, behavioral and sleep disturbance.
- Trial name
- AAVance (NCT03612869)
- Testing
- LYS-SAF302
- Where
- 8 sites in United States, France and 3 more
- Volunteers
- 20 people
- Sponsor
- LYSOGENE
MPS IIIB (Sanfilippo Syndrome)
A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB
The objective is to perform a retrospective chart review to generate data to evaluate the clinical characteristics and course of disease progression of MPS IIIB.
- Trial name
- NCT02293382
- Where
- 5 sites in United States, Brazil and 3 more
- Volunteers
- 30 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Sanfilippo Syndrome A
Natural History Observational Study of MPS IIIa in SMC
To characterize the clinical course of mucopolysaccharidosis type IIIA (MPS IIIA), and identify potential endpoints for future treatment trials.
- Trial name
- NCT04918641
- Testing
- assessment
- Volunteers
- 25 people
- Sponsor
- Samsung Medical Center
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.
Mucopolysaccharidosis Type IIIB, MPS III B
A Treatment Extension Study of Mucopolysaccharidosis Type IIIB
The primary objectives of this study are to evaluate the long-term safety and tolerability of AX 250 administered to subjects with MPS IIIB by an implanted ICV reservoir and catheter and to evaluate the impact of long-term AX 250…
- Trial name
- NCT03784287
- Testing
- AX 250
- Where
- 8 sites in United States, Colombia and 5 more
- Volunteers
- 20 people
- Sponsor
- Allievex Corporation
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
Mucopolysaccharidosis Type IIIA, Mucopolysaccharidosis Type IIIB
Natural History Studies of Mucopolysaccharidosis III
The purpose of this study is to assess rates of decline in motor and cognitive functional measures, and to assess potential biomarkers, in order to identify potential outcome measure appropriate for use in therapeutic clinical…
- Trial name
- NCT02037880
- Testing
- Lumbar puncture, Magnetic Resonance Imaging (MRI) of the brain
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Nationwide Children's Hospital
Lysosomal Storage Disease, Peroxisomal Disorder
Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders
This study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) in patients with high-risk lysosomal and peroxisomal disorders using a novel…
- Trial name
- NCT01626092
- Testing
- Campath-1H, Clofarabine, Melphalan
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
MPS III B, Mucopolysaccharidosis Type IIIB
A Treatment Study of Mucopolysaccharidosis Type IIIB
The study's primary objectives are to evaluate the safety and tolerability of AX 250 administered to subjects with MPS IIIB via an ICV reservoir and catheter and to evaluate the impact of AX 250 on cognitive function in patients…
- Trial name
- MPS IIIB (NCT02754076)
- Testing
- AX 250
- Where
- 7 sites in United States, Colombia and 5 more
- Volunteers
- 23 people
- Sponsor
- Allievex Corporation
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, 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, 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 B
Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome
This is an open-label, phase I/II study of intra-cerebral administration of adenovirus-associated viral vector containing the human NAGLU cDNA to children suffering from Sanfilippo type B syndrome.
- Trial name
- NCT03300453
- Testing
- rAAV2/5-hNAGLU
- Where
- France
- Volunteers
- 4 people
- Sponsor
- UniQure Biopharma B.V.
MPS IIIA, Sanfilippo Syndrome
Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease
Open-label, clinical trial of scAAV9.U1a.hSGSH injected intravenously through a peripheral limb vein
- Conditions
- MPS IIIA, Sanfilippo Syndrome, Sanfilippo A, Mucopolysaccharidosis III
- Trial name
- NCT04088734
- Testing
- ABO-102
- Where
- 3 sites in United States, Australia and 1 more
- Volunteers
- 5 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
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 (MPS)
Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients
Sanfilippo syndrome, or Mucopolysaccharidosis (MPS) III, is a rare lysosomal storage disease (LSD) caused by loss in activity of 1 of 4 enzymes necessary for degradation of the glycosaminoglycan (GAG) heparan sulfate (HS) in…
- Trial name
- NCT01155778
- Testing
- Recombinant human heparan N-sulfatase (rhHNS)
- Where
- 2 sites in Netherlands, United Kingdom
- Volunteers
- 12 people
- Sponsor
- Shire
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
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