Clinical trials: MPS - Mucopolysaccharidosis
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
Hunter Syndrome
Hunter Outcome Survey (HOS)
The purpose of this study is to collect data that will increase understanding of Hunter syndrome. The data from HOS may provide guidance to healthcare professionals about disease treatment options.
- Trial name
- HOS (NCT03292887)
- Where
- United States
- Volunteers
- 1,443 people
- Sponsor
- Shire
Sanfilippo Syndrome, Mucopolysaccharidosis (MPS)
An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.
This extension study will allow participants to continue receiving treatment with HGT-1410 and to initiate treatment in patients who received no-treatment in Study HGT-SAN-093, and will evaluate the long-term safety and efficacy…
- Trial name
- NCT02350816
- Testing
- HGT-1410
- Where
- 8 sites in United States, France and 5 more
- Volunteers
- 17 people
- Sponsor
- Shire
Mucopolysaccharidosis I, Mucopolysaccharidosis VI
Stem Cell Transplantation for Hurler
The purpose of this study is to determine the safety and engraftment of donor hematopoietic cells using this conditioning regimen in patients undergoing a hematopoietic (blood forming) cell transplant for Hurler syndrome…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Mannosidosis, Mucolipidosis Type II (I-cell Disease)
- Trial name
- NCT00176917
- Testing
- Stem Cell Transplant, Busulfan, Cyclophosphamide, ATG
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Mucopolysaccharidosis I, Hurler's Syndrome
A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients
The purpose of this study is to determine whether the development of antibodies to laronidase in patients with MPS I receiving Aldurazyme® impairs the clearance of GAG substrate.
- Conditions
- Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie's Syndrome
- Trial name
- NCT00144768
- Testing
- laronidase
- Where
- 3 sites in United States
- Volunteers
- 25 people
- Sponsor
- Genzyme, a Sanofi Company
Hunter Syndrome
Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment
Study HGT-HIT-094 is a multicenter study designed to determine the effect on clinical parameters of neurodevelopmental status of monthly IT administration of idursulfase-IT 10 mg for 12 months in pediatric patients with Hunter…
- Trial name
- AIM-IT (NCT02055118)
- Testing
- idursulfase-IT, No IT treatment
- Where
- 9 sites in United States, Australia and 5 more
- Volunteers
- 58 people
- Sponsor
- Shire
Carpal Tunnel Syndrome
Ultrasonographic Assessment of Carpal Tunnel Syndrome
Mucopolysaccharidosis are lysosomal storage disorders such as Hunter, Hurler, and Sanfilippo syndromes. These patients have a genetic enzyme deficiency that results in the inability to degrade glycosaminoglycans.
- Trial name
- NCT02196220
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- University of Utah
Hepato-splenomegaly, Dysostosis Multiplex
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood
- Conditions
- Hepato-splenomegaly, Dysostosis Multiplex, Seizures, Mental Retardation
- Trial name
- BioGM1/BioGM2 (NCT02298647)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Gas, Bloating
Assessment and Validation of Electronic Gas and Bloating Diary
The investigator's goal is to improve the patient's compliance and accurate capture of patient reported gas and bloating symptoms, by utilizing a phone application that interactively records each gas and bloating event in…
- Conditions
- Gas, Bloating, Distension, Constipation
- Trial name
- NCT04684849
- Testing
- APP Diary, Paper Diary
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Augusta University
Mucopolysaccharidosis I
Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I
AGT-181 is a fusion protein containing alpha-L-iduronidase that is intended to deliver the enzyme peripherally and to the brain, when administered intravenously.
- Trial name
- NCT03053089
- Testing
- AGT-181
- Where
- Brazil
- Volunteers
- 21 people
- Sponsor
- ArmaGen, Inc
Mucopolysaccharidosis IVA, Morquio A Syndrome
Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome
The primary objective of this study was to evaluate the safety of a 2.0 mg/kg/week and a 4.0 mg/kg/week of BMN 110 in patients with Morquio A syndrome for up to 196 weeks.
- Conditions
- Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01609062
- Testing
- BMN 110
- Where
- 11 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- BioMarin Pharmaceutical
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
Fibrodysplasia Ossificans Progressiva, FOP
A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
This study is researching an experimental drug called garetosmab, referred to as "study drug". The study is focused on children and adolescent participants with FOP.
- Trial name
- OPTIMA-2 (NCT07559513)
- Testing
- garetosmab
- Volunteers
- 18 people
- Sponsor
- Regeneron Pharmaceuticals
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
Hunter Syndrome
Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome
As the HGT-HIT-046 (NCT01506141) and SHP609-302 (NCT02412787) studies are completed and closed, this post-trial access (PTA) program provides TAK-609 to participants in these studies for whom the benefit:risk ratio of continued…
- Trial name
- NCT05795361
- Testing
- Idursulfase-IT
- Where
- 22 sites in United States, Australia and 3 more
- Sponsor
- Takeda
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
Sly Syndrome, MPS VII
A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
The primary objective of the study is to evaluate the long-term safety of UX003 in subjects with MPS 7.
- Conditions
- Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
- Trial name
- NCT02432144
- Testing
- UX003
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
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
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 I, Mucopolysaccharidosis II
Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI
Randomized, double-blind, placebo-controlled, parallel-group, single-center study followed by open-label phase, to evaluate the effects of adalimumab compared to placebo on the change from baseline in joint and skeletal disease…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT03153319
- Testing
- Adalimumab Injection [Humira], Saline Solution for Injection
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center