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Mucopolysaccharidosis VII clinical trials

View clinical trials related to Mucopolysaccharidosis VII.

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NCT ID: NCT06036693 Recruiting - Clinical trials for Mucopolysaccharidosis II

MPS (RaDiCo Cohort) (RaDiCo-MPS)

Start date: December 20, 2017
Phase:
Study type: Observational

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.

NCT ID: NCT05687474 Recruiting - Cystic Fibrosis Clinical Trials

Baby Detect : Genomic Newborn Screening

Start date: September 1, 2022
Phase:
Study type: Observational

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

NCT ID: NCT05619900 Recruiting - Clinical trials for Mucopolysaccharidosis II

Registry of Patients Diagnosed With Lysosomal Storage Diseases

LSD Registry
Start date: May 31, 2022
Phase:
Study type: Observational [Patient Registry]

This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.

NCT ID: NCT05368038 Enrolling by invitation - Fabry Disease Clinical Trials

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

ScreenPlus
Start date: May 10, 2021
Phase:
Study type: Observational

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 panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of disorders, 2) determine disease incidence in an ethnically diverse population, and 3) assess the impact of early diagnosis on health outcomes. Over a five-year period, ScreenPlus aims to screen 175,000 infants born in nine high birthrate, ethnically diverse pilot hospitals in New York for a flexible panel of 14 rare genetic disorders. This study will also involve an evaluation of the Ethical, Legal and Social issues pertaining to NBS for complex disorders, which will be done via online surveys that will be directed towards ScreenPlus parents who opt to participate and qualitative interviews with families of infants who are identified through ScreenPlus.

NCT ID: NCT03775174 Available - Clinical trials for Mucopolysaccharidosis VII

Expanded Access to Mepsevii

Start date: n/a
Phase:
Study type: Expanded Access

Individual patient expanded access requests may be considered for patients who have no other treatment options

NCT ID: NCT03604835 Recruiting - Clinical trials for Mucopolysaccharidosis VII

Mucopolysaccharidosis VII Disease Monitoring Program

Start date: January 29, 2018
Phase:
Study type: Observational

The objectives of this study are to characterize MPS VII disease presentation and progression and assess long-term effectiveness and safety, including hypersensitivity reactions and immunogenicity of vestronidase alfa.

NCT ID: NCT02432144 Completed - Clinical trials for Mucopolysaccharidosis

A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)

Start date: November 10, 2015
Phase: Phase 3
Study type: Interventional

The primary objective of the study is to evaluate the long-term safety of UX003 in subjects with MPS 7.

NCT ID: NCT02418455 Completed - Clinical trials for Mucopolysaccharidosis

Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age

Start date: July 21, 2015
Phase: Phase 2
Study type: Interventional

The primary objective was to evaluate the effect of UX003 treatment in pediatric MPS VII participants less than 5 years of age on safety, tolerability, and efficacy as determined by the reduction of urinary glycosaminoglycans (uGAG) excretion.

NCT ID: NCT02298699 Withdrawn - Developmental Delay Clinical Trials

Biomarker for Sly Disease (MPS VII) (BioSly)

BioSly
Start date: August 20, 2018
Phase:
Study type: Observational

Development of a new MS-based biomarker for the early and sensitive diagnosis of Sly disease from blood (plasma)

NCT ID: NCT02230566 Completed - Clinical trials for Mucopolysaccharidosis

A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)

Start date: December 2014
Phase: Phase 3
Study type: Interventional

The Phase 3 study will use a novel randomized, intra-subject placebo-controlled, single crossover design, referred to as Blind Start, to evaluate the safety and efficacy of UX003. The Blind Start is a novel design whereby participants will be randomized to 1 of 4 groups, each representing a different treatment sequence, and will cross over to UX003 at different pre-defined time points in a blinded manner. All groups will receive a minimum of 24 weeks treatment with 4 mg/kg UX003 every other week (QOW).