View clinical trials related to Mucopolysaccharidoses.
Filter by:The goal of this clinical trial is to test cannabidiol in Sanfilippo syndrome. The main questions it aims to answer are: 1) determine the safety of cannabidiol in Sanfilippo syndrome, and 2) explore the efficacy of cannabidiol in treating the neurobehavioral symptoms and functional outcomes of Sanfilippo syndrome. Each participant's caregiver will be asked to complete surveys related to the participant's behavior, mood, sleep, stooling, pain, and caregiver stress intermittently throughout the study. All participants will be enrolled into one of two cohorts based on enrollment order: 1. Sentinel Safety Cohort (first 5 participants) - all participants treated with Epidiolex (cannabidiol) 2. Controlled Cohort (next 30 participants) - participants randomized 1:1 (equal chance) to start treatment with Epidiolex (cannabidiol) or placebo for 16 weeks, followed by an 8-week washout period (no treatment). Participants then switch to the opposite treatment group for 16 weeks followed by all participants treated for 52 weeks with Epidiolex (cannabidiol).
This is a multicenter, open-label, Phase 1/2 study to assess the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and exploratory clinical efficacy of DNL126 in participants with Sanfilippo syndrome Type A (MPS IIIA). The core study period is 25 weeks (approximately 6 months) and is followed by a 72-week (approximately 18 month) open-label extension (OLE).
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.
A Phase I/ II, open-label, randomized, 2-arm study, designed to evaluate the safety and explore efficacy of the study drug in development for the treatment of MPS IIIA patients.
This is a multiregional open-label extension (OLE) to assess the safety, tolerability, and efficacy of long-term treatment with tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant intravenous (IV) enzyme replacement therapy (ERT) for Hunter syndrome (MPS II). Participants who complete at least through the Week 49 visit in Study DNLI-E-0002 and do not discontinue study intervention early and participants who complete Study DNLI-E-0007 will be enrolled in this OLE. All participants will receive DNL310 for up to 5 years from the time of entry in this OLE. Participants, site staff, and the Sponsor will remain blinded to the original treatment assignment for participants entering this OLE from Study DNLI-E-0007.
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.
The Mucopolysaccharidoses (MPS) are a family of genetic metabolic disorders, caused by specific enzyme deficiencies which result in accumulation of partially degraded glycosaminoglycans (GAGs) within various tissues. As GAGs are common in the body a number of different organ systems can be affected. Involvement of the upper and lower respiratory tract in MPS Type II results in significant airway compromise, with progressive airway obstruction being responsible for a significant proportion of the morbidity and mortality associated with this condition. Hearing loss is a universal finding in MPS, with a third of patients suffering with severe profound hearing loss. There is an unmet need for strong clinical evidence to guide treatment of head, neck and respiratory disease in MPS disorders. A Core Outcome Set (COS) describes the minimum outcome data that should be measured in a clinical study for a particular condition. The lack of an agreed COS for MPS II in general, and specifically head, neck and respiratory disease, makes comparison between studies difficult. There is also a lack of information detailing patient and parent perspectives on the MPS disorders. The ideal COS for head, neck and respiratory disease associated with MPS II would combine both patient/parent and clinician opinion and could be used in the design of all subsequent clinical studies. Following literature review the investigators have created a list of outcomes previously reported for qualitative and quantitative studies investigating head, neck and respiratory disease in MPS II. For the proposed research the investigators will seek opinions of patients, parents, clinicians and scientists to rate these outcomes via the Delphi method. Outcomes scored highest by patients, parents, clinicians and scientists will form a COS for head, neck and respiratory disease in MPS II. The development of a COS can help limit variability outcomes in studies investigating different interventions in MPS II.
This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
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.