Mucopolysaccharidosis clinical trials at University of California Health

22 in progress, 10 open to eligible people

Showing trials for

  • JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)

    open to all eligible people

    A Global Phase III multicenter, randomized, assessor-blinded, active-controlled designed to evaluate safety and efficacy of study drug for the treatment of the MPS II.

    at UCSF

  • ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis [MPS] II)

    open to eligible males ages up to 6 years

    The main aim of this study is to evaluate the ability of a prophylactic immune tolerizing regimen (ITR) to prevent or reduce the development of high titer anti-idursulfase antibodies in treatment-naïve participants with Hunter syndrome. In this open label, single arm study, all participants will receive ELAPRASE treatment and a prophylactic ITR. Participants will be treated with ELAPRASE for up to 104 weeks. The prophylactic ITR will start 1 day prior to the start of ELAPRASE. The prophylactic ITR will consist of a 5-week cycle of: Rituximab (intravenously [IV], weekly for 4 weeks); Methotrexate (oral, 3 times per week for 5 weeks) and intravenous immunoglobulin (IVIG) (IV, every 4 weeks of the cycle). Following the completion of 1 cycle, an assessment will be made at Month 6, 12, and 18 regarding the need for administering another 5-week cycle of the ITR. Participants will be in the study for approximately 112 weeks (including 6 weeks for screening, up to 104 weeks for treatment, and 2 weeks for follow-up).

    at UCLA UCSD UCSF

  • Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)

    open to eligible people ages 2-26

    This is a Phase 2/3, multiregional, two-arm, double-blind, randomized, active (standard-of-care)-controlled study of the efficacy and safety of tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant enzyme-replacement therapy (ERT) for mucopolysaccharidosis type II (MPS II). Participants may also qualify to enter an open-label treatment phase with DNL310 or idursulfase based on pre-specified criteria.

    at UCSF

  • ISP-001: Sleeping Beauty Transposon-Engineered B Cells for MPS I

    open to eligible people ages 18 years and up

    A first-in-human study using ISP-001 in adult patients with Mucopolysaccharidosis Type I Hurler-Scheie and Scheie.

    at UCSF

  • PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

    open to eligible females ages 18-50

    For detailed information, please view our study website: https://pearltrial.ucsf.edu/ The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.

    at UCSF

  • GC1130A in Pediatric Patients with Sanfilippo Syndrome Type a (MPS IIIA)

    open to eligible people ages 24 months to 72 months

    The purpose of this study is to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of recombinant human heparan N-sulfatase (rhHNS, GC1130A) administered via intracerebroventricular access device in pediatric patients with Sanfilippo Syndrome Type A (MPS IIIA).

    at UCSF

  • DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)

    open to eligible people ages 0-18

    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). Participants with MPS IIIA will be enrolled in two planned cohorts, and additional participants with MPS IIIA may be enrolled in three optional cohorts.

    at UCSF

  • Mucopolysaccharidosis I (MPS I) Registry

    open to all eligible people

    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

    at UC Davis UCSD UCSF

  • Registry of Patients Diagnosed With Lysosomal Storage Diseases

    open to eligible people ages up to 64 years

    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.

    at UCSF

  • Myelin Disorders Biorepository Project

    open to all eligible people

    The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.

    at UC Davis UCSD UCSF

  • Tividenofusp Alfa (DNL310) in Pediatric Participants With Hunter Syndrome

    Sorry, in progress, not accepting new patients

    This is a multicenter, multiregional, open-label study to assess the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant enzyme replacement therapy (ERT), designed to treat both the peripheral and CNS manifestations of Mucopolysaccharidosis type II (MPS II; Hunter syndrome). Participants, whose physicians feel they are deriving benefit, will have the opportunity to be reconsented into a safety extension and then an open-label extension for continued evaluation.

    at UCSF

  • OTL-203 in Subjects with MPS-IH Compared with Standard of Care with Allogeneic HSCT

    Sorry, in progress, not accepting new patients

    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).

    at UCSF

  • JR-141 to Evaluate the Long-term Safety and Efficacy in Mucopolysaccharidosis Type II (Hunter Syndrome) Subjects

    Sorry, accepting new patients by invitation only

    An extension of Global Phase III open-label, multicenter designed to evaluate the Long-term safety and efficacy of study drug for the treatment of the MPS II.

    at UCSF

  • JR-171-101 Study in Patients With MPS I

    Sorry, in progress, not accepting new patients

    Phase I/II, open label, multicenter, multinational (Japan, Brazil and the US) extension study of JR-171-101 for the treatment of MPS I

    at UCSF

  • CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)

    Sorry, in progress, not accepting new patients

    RGX-121 is a gene therapy which is intended to deliver a functional copy of the iduronate-2-sulfatase gene (IDS) to the central nervous system. This study is a safety and efficacy, dose ranging study to determine whether RGX-121 is safe, effective and well-tolerated by patients with MPS II.

    at UCSF

  • Voxzogo for Growth Deficits in MPS IVA and VI

    Sorry, in progress, not accepting new patients

    This is a Phase I/II, single arm, open label study of vosoritide therapy provided subcutaneously at 15 ug/kg/day for 48 weeks to 6 patients with MPS IVA or VI. Prior to enrollment in the interventional arm of study, subjects will be followed for a minimum of 24 weeks to gather information on safety profiles and determine annualized growth velocity. The primary study endpoint is the determination of safety and tolerability of daily vosoritide treatment in MPS. Exploratory endpoints include changes in linear and segmental growth as well as biomarkers of growth and bone metabolism.

    at UCSF

  • ICV AX 250 Treatment in MPS IIIB -OLE

    Sorry, accepting new patients by invitation only

    This is a Phase 3B/4, multicenter, multinational, open label study to further evaluate intracerebroventricular (ICV) delivered AX 250 treatment in MPS IIIB subjects that complete Study 250-202 for up to an additional 3 years (144 weeks) of treatment with AX 250 administered by ICV infusion every other week. Subjects will be evaluated for neurocognitive function, communication, adaptive behavior, quality of life, imaging characteristics and biochemical markers of disease burden. Safety will be assessed by adverse events, clinical labs, and physical exams.

    at UCSF

  • Cannabidiol in Sanfilippo Syndrome

    Sorry, not yet accepting patients

    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).

    at UCLA

  • Adalimumab in MPS I, II, and VI

    Sorry, in progress, not accepting new patients

    Randomized, 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.

    at UCLA

  • Mucopolysaccharidosis Type IIIB (MPS IIIB)

    Sorry, in progress, not accepting new patients

    This is a natural history study for children up to 18 years of age who have been diagnosed with Mucopolysaccharidosis Type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B). Mucopolysaccharidosis type IIIB is a severe neurodegenerative disorder. The information gathered from this trial may help inform the design and interpretation of subsequent interventional studies. No clinical intervention or study drug is provided by Allievex in this study.

    at UCSF

  • (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX

    Sorry, in progress, not accepting new patients

    Long-term follow-up of subjects who received SB-318, SB-913, or SB-FIX in a previous trial and completed at least 52 weeks post-infusion follow-up in their primary protocol. Enrolled subjects will be followed for a total of up to 10 years following exposure to SB-318, SB-913, or SB-FIX.

    at UCSF

  • Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome

    Sorry, not accepting new patients

    As the HGT-HIT-046 (NCT01506141) and SHP609-302 (NCT02412787) studies will be closed, this post-trial access (PTA) program provides TAK-609 to participants in these studies for whom the benefit:risk ratio of continued treatment with idursulfase-IT remains positive.

    at UCSF

Our lead scientists for Mucopolysaccharidosis research studies include .

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