ISP-001: Sleeping Beauty Transposon-Engineered B Cells for MPS I
Mucopolysaccharidosis IH/SMucopolysaccharidosis ISA first-in-human study using ISP-001 in adult patients with Mucopolysaccharidosis Type I Hurler-Scheie and Scheie.
A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With...
Mucopolysaccharidosis IHurler's Syndrome2 moreThe purpose of this study is to determine if laronidase is present in the breast milk of post-partum women receiving Aldurazyme® (laronidase) and the effects of Aldurazyme (laronidase) on the growth, development, and immunologic response of their breastfed infants.
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis DisordersHurler Syndrome27 moreThis 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).
RGX-111 Gene Therapy in Patients With MPS I
Mucopolysaccharidosis Type I (MPS I)Hurler Syndrome1 moreRGX-111 is a gene therapy which is intended to deliver a functional copy of the α-L-iduronidase (IDUA) gene to the central nervous system. This is a safety and dose ranging study to determine whether RGX-111 is safe and tolerated by patients with MPS I.
An Extension Study of JR-171-101 Study in Patients With MPS I
Mucopolysaccharidosis IPhase I/II, open label, multicenter, multinational (Japan, Brazil and the US) extension study of JR-171-101 for the treatment of MPS I
Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI
Mucopolysaccharidosis IMucopolysaccharidosis II1 moreRandomized, 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 in children and adults with mucopolysaccharidosis (MPS) I, II or VI.
Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With...
Mucopolysaccharidosis IHThis is a phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human α-L-iduronidase gene for the treatment of patients affected by Mucopolysaccharidosis Type I, Hurler variant
Registry of Patients Diagnosed With Lysosomal Storage Diseases
Mucopolysaccharidosis IMucopolysaccharidosis II6 moreThis 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.
Baby Detect : Genomic Newborn Screening
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1134 moreNewborn 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.
Mucopolysaccharidosis I (MPS I) Registry
Mucopolysaccharidosis I (MPS I)The Mucopolysaccharidosis I (MPS I) Registry is an ongoing, observational database that tracks the outcomes of patients with MPS I. The data collected by the MPS I Registry will provide information to better characterize the natural history and progression of MPS I as well as the clinical responses of patients receiving enzyme replacement therapy, such as Aldurazyme (Recombinant Human Alpha-L-Iduronidase), or other treatment modalities. The objectives of the Registry are: To evaluate the long-term effectiveness and safety of Aldurazyme® (laronidase) To characterize and describe the MPS I population as a whole, including the variability, progression, and natural history of MPS I To help the MPS I medical community with the development of recommendations for monitoring patients and reports on patient outcomes to optimize patient care