Clinical trials: Mucopolysaccharidosis III
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
Mucopolysaccharidosis Type IIIB
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
This is a natural history study for children up to 18 years of age who have been diagnosed with Mucopolysaccharidosis Type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B).
- Trial name
- NCT03227042
- Where
- 9 sites in United States, Argentina and 7 more
- Volunteers
- 44 people
- Sponsor
- Allievex Corporation
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 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 Type 1
Efficacy and Safety of YW17 (Laronidase-CinnaGen) Compared to Aldurazyme® in MPS I Patients
The purpose of this phase III study is to assess the efficacy and safety of YW17 produced by CinnaGen Company compared to Aldurazyme® in mucopolysaccharidosis type I (MPS I) patients.
- Trial name
- NCT06406153
- Testing
- Laronidase, Antihistamine, Antipyretic
- Where
- 4 sites in Iran
- Volunteers
- 12 people
- Sponsor
- Cinnagen
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
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.
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
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
Mucopolysaccharidosis II
Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)
The purpose of this study is to determine whether the administration of iduronate-2-sulfatase enzyme in a weekly or every other week therapy frequency is safe and efficacious in patients with MPS II.
- Trial name
- NCT00069641
- Testing
- Iduronate-2-sulfatase enzyme replacement therapy
- Where
- 9 sites in United States, Brazil and 2 more
- Volunteers
- 96 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 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
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
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
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
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.
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
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.
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.
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