Clinical trials: Sanfilippo Syndrome Type A
Hurler Syndrome (MPS I), Hurler-Scheie Syndrome
Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
The goal of this research study is to establish chimerism and avoid graft-versus-host-disease (GVHD) in patients with inherited metabolic disorders.
- Conditions
- Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III)
- Trial name
- NCT01372228
- Testing
- hematopoietic stem cell infusion
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Talaris Therapeutics Inc.
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
Sanfilippo Syndrome
Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
Sanfilippo syndrome Type A, or Mucopolysaccharidosis (MPS) IIIA, is a rare lysosomal storage disease caused by deficiency of the enzyme heparan N-sulfatase (sulfamidase).
- Trial name
- NCT02060526
- Testing
- Recombinant human heparan N-sulfatase [rhHNS]
- Where
- 10 sites in United States, Argentina and 6 more
- Volunteers
- 21 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
Adrenoleukodystrophy, Metachromatic Leukodystrophy
HSCT for High Risk Inherited Inborn Errors
Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD, or Krabbe disease).
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease
- Trial name
- NCT00383448
- Testing
- Clofarabine, Total body Irradiation, Melphalan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
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
Mucopolysaccharidoses
Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
Mucopolysaccharidosis (MPS) syndromes are disorders characterized by enzyme deficiencies, and they have been linked to heart health complications.
- Trial name
- NCT01586871
- Where
- 2 sites in United States
- Volunteers
- 1,147 people
- Sponsor
- University of Minnesota
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
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.
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
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.
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 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 IIIB, Mucopolysaccharidosis Type 3 B
A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
Mucopolysaccharidosis type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B) is a severe neurodegenerative disorder. The purpose of this study is to learn more about the health problems in patients with MPS IIIB and how…
- Conditions
- Mucopolysaccharidosis Type IIIB, Mucopolysaccharidosis Type 3 B, MPS III B, MPS 3 B
- Trial name
- NCT02493998
- Where
- 8 sites in United States, Australia and 6 more
- Volunteers
- 22 people
- Sponsor
- Allievex Corporation
Mucopolysaccharidosis III-A
A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA; Sanfilippo Syndrome)
This protocol is a decentralized, single cohort, natural history and biomarker study enrolling up to 20 participants with MPS IIIA (Sanfilippo syndrome).
- Trial name
- NCT05523206
- Testing
- No intervention
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Sanguine Biosciences
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
Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)
Sanfilippo syndrome, or Mucopolysaccharidosis (MPS) III, is a rare lysosomal storage disease (LSD) caused by loss in activity of 1 of 9 enzymes necessary for degradation of the glycosaminoglycan (GAG) heparan sulfate (HS) in…
- Trial name
- NCT01299727
- Testing
- rhHNS-10 mg, rhHNS-45 mg, rhHNS-90 mg
- Where
- 2 sites in Netherlands, United Kingdom
- Volunteers
- 12 people
- Sponsor
- Shire
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
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
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