search

Active clinical trials for "Mucopolysaccharidosis VII"

Results 1-10 of 14

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

Mucopolysaccharidosis DisordersHurler Syndrome27 more

This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with busulfan therapeutic drug monitoring (TDM) for patients with various inherited metabolic disorders (IMD) and severe osteopetrosis (OP).

Recruiting35 enrollment criteria

Registry of Patients Diagnosed With Lysosomal Storage Diseases

Mucopolysaccharidosis IMucopolysaccharidosis II6 more

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.

Recruiting3 enrollment criteria

Mucopolysaccharidosis VII Disease Monitoring Program

Mucopolysaccharidosis VIIMPS VII2 more

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.

Recruiting4 enrollment criteria

Baby Detect : Genomic Newborn Screening

Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1134 more

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.

Recruiting4 enrollment criteria

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

Acid Sphingomyelinase DeficiencyCeroid Lipofuscinosis15 more

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.

Enrolling by invitation4 enrollment criteria

MPS (RaDiCo Cohort) (RaDiCo-MPS)

Mucopolysaccharidosis IMucopolysaccharidosis II6 more

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.

Recruiting3 enrollment criteria

Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism

Hurler's SyndromeMaroteaux-Lamy Syndrome10 more

The primary objective of this clinical trial is to evaluate the ability to achieve and sustain donor engraftment in patients with lysosomal and peroxisomal inborn errors of metabolism undergoing hematopoietic stem cell transplantation (HCT).

Terminated25 enrollment criteria

Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis...

Sly SyndromeMPS VII2 more

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.

Completed8 enrollment criteria

A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects...

Sly SyndromeMPS VII2 more

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

Completed15 enrollment criteria

A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy...

MPS 7Sly Syndrome2 more

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).

Completed15 enrollment criteria
12

Need Help? Contact our team!


We'll reach out to this number within 24 hrs