View clinical trials related to Mucopolysaccharidosis I.
Filter by:A multi-center randomized clinical trial to compare OTL-203 (gene therapy) with stem cell transplant (standard of care) in patients with MPS-IH (Hurler syndrome).
RGX-111-5101 is a long-term follow up study that evaluates the long term safety and efficacy of RGX-111 in participants who have received RGX-111 (a gene therapy intended to deliver a functional copy of the alpha-L-iduronidase gene (IDUA) to the central nervous system) in a separate parent study.
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.
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.
A first-in-human study using ISP-001 in adult patients with Mucopolysaccharidosis Type I Hurler-Scheie and Scheie.
This is a prospective, observational multicenter study to collect blood from patients with mucopolysaccharidosis type IH undergoing laronidase therapy and a stem cell transplant. Sixteen patients will be enrolled over a 24 month period.
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.
This is a single treatment arm study that is open-label to be conducted in Chinese participants with MPS I. Trial Objectives are to evaluate the safety and tolerability of Aldurazyme in Chinese MPS I participants, and to evaluate the efficacy of Aldurazyme on the percent change of urinary glycosaminoglycans (uGAGs) from baseline to Week 26. The study will also evaluate the effect on uGAG level and liver volume (hepatomegaly) after 26 weeks, with Aldurazyme treatment in Chinese MPS I participants. Treatment duration will include: 2 weeks of screening, 26 weeks of treatment and 1 week of follow-up period. During the treatment period, weekly visits are designed to accommodate weekly administration of Aldurazyme (laronidase).
Primary objective: To obtain data pertaining to the safety and tolerability of alglucosidase alfa and laronidase treatments administered in a home-care infusion setting. Secondary objectives: - To evaluate personal satisfaction of both cohorts of patients treated in a home-care infusion setting. - To evaluate the infusion compliance in both cohorts of patients treated in a home-care infusion setting.
MPS I newborn screening has been executed in Taiwan nationwide since August 2015. Infants who failed the recheck at recall were referred to MacKay Memorial Hospital for a detailed confirmatory diagnosis. Urinary first-line biochemistry examinations including urinary GAG quantification (DMB/Cre. ratio), two-dimensional electrophoresis (2-D EP), and tandem mass spectrometry assay for predominant disaccharides derived from GAGs (i.e. CS, DS, HS, and KS) were performed. If the results were positive, a confirmative diagnosis was made according to the results of leukocyte enzymatic assay and molecular DNA analysis. Up to January 31, 2019, a total of 390,793 infants had been analyzed for MPS I, in those 11 suspicious cases were referred to MacKay Memorial Hospital for confirmation. The recall rates of MPS I was 0.0028%. Four of the 11 infants were confirmed to have MPS I. The prevalence rates of MPS I was 1.02 per 100,000 live births, respectively. Infants suspected of having MPS with a positive laboratory diagnosis but without any typical, clinical manifestations are not conformed to receive ERT under the treatment guideline of ERT for MPS in Taiwan. Distinctly, the clinical manifestations of MPS are irreversible and would be worse progressively while the symptoms have shown up. Receiving ERT at this time would effectively prevent the progression of illness, but, cannot rescue or reform the irreversible physical problems. By proceeding and undergoing an intensively long-term regular physical and laboratory examinations for asymptomatic infants with MPS I can effectively control the possibility of giving an ERT in a timely fashion.