Active clinical trials for "Lysosomal Storage Diseases"

The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders. We will particularly focus on patients with a diagnosed genetic disorder that has inconclusive genetic findings.

This is a multinational, open-label study to assess the safety and efficacy of FLT190 in up to 15 adult male participants with classical Fabry disease.

The investigators are studying the use of enzyme replacement therapy into the spinal fluid for treatment of spinal cord compression in the Hurler-Scheie and Scheie forms of mucopolysaccharidosis I (MPS I). Funding source -- FDA OOPD

This is a one-year extension study of the use of laronidase into the spinal fluid to treat spinal cord compression in mucopolysaccharidosis I. Mucopolysaccharidosis I is a rare genetic condition due to deficiency of the enzyme alpha-l-iduronidase. Spinal cord compression occurs in this condition due to accumulation of material called glycosaminoglycans (GAG). Laronidase is the manufactured form of the enzyme alpha-l-iduronidase that is deficient in mucopolysaccharidosis I patients. The aim of this study is to determine whether laronidase is safe and effective when given into the spinal fluid as a potential non-surgical treatment for spinal cord compression due to mucopolysaccharidosis I disease. Funding Source -- FDA OOPD

Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease. A portion of cord blood cells (ALD-101) will be separated from the cord blood unit and given approximately 4 hours after the standard cord blood transfusion. The study will test if the supplemental cells will increase the speed at which normal levels of circulating blood cells are re-established after transplant.

This is a 24-month study of the use of laronidase administered into the spinal fluid to treat cognitive decline in mucopolysaccharidosis I (MPS I). MPS I is a rare genetic condition due to deficiency of the enzyme alpha-l-iduronidase. Laronidase is the manufactured form of the enzyme alpha-l-iduronidase. MPS I is a heterogeneous disease with several clinical phenotypes ranging from the most severe, Hurler syndrome, to the attenuated forms, Hurler-Scheie and Scheie. Although patients with milder forms of MPS I may not have grossly observable problems with cognition, these patients do have learning difficulties that are apparent in school and with neuropsychological testing. The goal of this study is to evaluate whether intrathecal recombinant human alpha-l-iduronidase (rhIDU) injections can stabilize or improve cognitive decline in individuals with MPS I.

This study examines the effects of individualized diet and exercise plans on muscle strength, quality of life and respiratory function in Pompe disease. Subjects will be given a diet and exercise plan based on their individual needs, which will be followed for 16 weeks. Participants will also be provided with an activity tracker in order to track their exercise activities, access to an app that will allow them to input their daily food intake, and they will also come to the University of Florida for exercise tests, respiratory tests and questionnaires.

The primary objective is to determine the feasibility of attaining acceptable rates of donor cell engraftment (>25% donor chimerism at 180 days) following reduced intensity conditioning (RIC) regimens in pediatric patients < 21 years receiving cord blood transplantation for non-malignant disorders.

This study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) in patients with high-risk lysosomal and peroxisomal disorders using a novel conditioning regimen for hematopoietic cell transplantation (HCT). After a reduced-intensity conditioning regimen using volumetric-modulated arc therapy (VMAT)-delivered low-dose total body irradiation (TBI) with highly conformal marrow boosting, patients will be transplanted using either a related or unrelated allograft. The cell source may be marrow, peripheral blood or cord blood based on donor availability.

The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 capsid and GAA, GAA activity and GAA antigen levels in the usual care setting of Late-Onset Pompe Disease (LOPD) participants on an enzyme replacement regimen. Additionally, a careful evaluation of laboratory and functional testing in patients with LOPD may provide information to better understand the disease features and better drive the design of a future interventional investigational gene therapy trial. An understanding of the underlying status of liver and muscle health in individuals with LOPD may also inform best surveillance during the conduct of gene therapy trials.