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Mucopolysaccharidosis clinical trials at University of California Health

17 in progress, 9 open to eligible people

Showing trials for
  • A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II

    open to eligible males

    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

  • A Study of DNL310 in Pediatric Participants With Hunter Syndrome

    open to eligible males ages up to 18 years

    This is a multicenter, multiregional, open-label study to assess the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of 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

  • A Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)

    open to eligible people ages 2-16

    This is a Phase 2/3, multiregional, two-arm, double-blind, randomized, active (standard-of-care)-controlled study of the efficacy and safety of 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

  • In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases

    open to eligible females ages 18-50

    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

  • RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome)

    open to eligible males ages 5-17

    RGX-121 is a gene therapy which is designed to deliver a functional copy of the iduronate-2-sulfatase (IDS) gene to the central nervous system. This study is a phase I/II study to determine whether RGX-121 is safe, well tolerated, and potentially effective in children five years of age and over who have severe MPS II.

    at UCSF

  • RGX-121 Gene Therapy in Patients With MPS II (Hunter Syndrome)

    open to eligible males ages 4 months to 5 years

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

    at UCSF

  • Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI

    open to eligible people ages 5 years and up

    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

  • A Study of Potential Treatment-Responsive Biomarkers and Clinical Outcomes in Hunter Syndrome

    open to eligible people ages up to 30 years

    This is a four-part prospective, multicenter, multiregional observational study of patients with mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, to assess biomarkers potentially related to disease severity and/or treatment response and prospectively assess the progression of disease in participants with MPS II who are aged 2 through 10 years (Part 1), 2 through 30 years (Part 2), < 8 years (Part 3), and 6 to < 17 years (Part 4) at the time of enrollment.

    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

  • A Treatment Extension Study of Mucopolysaccharidosis Type IIIB

    Sorry, in progress, not accepting new patients

    The primary objectives of this study are to evaluate the long-term safety and tolerability of AX 250 administered to subjects with MPS IIIB by an implanted ICV reservoir and catheter and to evaluate the impact of long-term AX 250 treatment on cognitive function in patients with MPS IIIB as assessed by developmental quotient (DQ).

    at UCSF

  • An Extension Study of 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

  • Open-label Study of Anakinra in MPS III

    Sorry, in progress, not accepting new patients

    Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a disorder of metabolism, associated with insufficient production of a lysosomal enzyme needed for normal cell function. As a consequence of the cellular dysfunction, patients with this disorder develop progressive, irreversible neurodegeneration. Sadly, to date no evidence-based treatments are available. Inflammation has been connected with disease pathogenesis in the MPS disorders. Therapies aimed at decreasing inflammation are currently being studied in many MPS disorders and benefits in both brain and other parts of the body have been reported.Decreasing interleukin-1 (IL-1) in an animal model of MPS III showed benefits in brain disease and behavior. Thus, we think that anakinra (Kineret), which decreases IL-1 levels in the body, will improve behavioral and other problems in children with MPS III. Anakinra is approved by the FDA for treatment of rheumatoid arthritis (RA) and neonatal-onset multisystem inflammatory disease (NOMID). It is not approved for any MPS disorder. The design of this study is an open-label, single center, pilot study of 20 participants with MPS III. There will be an initial screening visit, followed by an 8-week observational period, then a 36-week treatment period, and finally another 8-week observational period to determine any effects of withdrawal from the treatment. During visits the participants will undergo a medical history, a physical examination, and anthropometric measurements. Blood, urine, and stool will be collected for biomarker levels and safety laboratory studies. Questionnaires will be completed with questions related to behavior, stooling, sleep, and activities of daily living. Seizure and movement disorders will be monitored as well. The most common risks of receiving anakinra, based on RA and NOMID experience, include local injection site reactions, headache, nausea, vomiting, arthralgia, and flu-like symptoms. The most serious potential risk is a serious infection and neutropenia. However, because so few people with MPS have been treated with anakinra, all the risks related to MPS patients receiving anakinra are not currently known. Additional risks related to taking part in the study include some pain, bruising, and/or bleeding due to blood draws/peripheral IV placement, and discomfort with completing some of the questionnaires. The expected potential direct benefits include, but are not limited to, improved behavior, sleep, stooling, communication, mood, and gait; as well as decreased seizure frequency, disordered movement and fatigue. However, there is no guarantee that participants will get any benefit from being in this study.

    at UCLA

  • Safety, Tolerability and Efficacy of ICV AX 250 Treatment in MPS IIIB -OLE

    Sorry, not yet accepting patients

    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

  • Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094

    Sorry, in progress, not accepting new patients

    This extension study will allow participants that completed Study HGT-HIT-094 to continue receiving Elaprase treatment in conjunction with idursulfase IT or to continue receiving Elaprase treatment and begin concurrent IT treatment for those that did not receive idursulfase IT treatment in Study HGT-HIT-094.

    at UCSF

  • A Prospective Natural History Study of 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

  • Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX

    Sorry, accepting new patients by invitation only

    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

  • Mucopolysaccharidosis Type II Observational

    Sorry, not currently recruiting here

    This is an observational study planned to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care and/or intrathecal Elaprase® for their condition. Some patients may be offered the opportunity to screen for a gene therapy study conducted by the same sponsor.

    at UCSF

Our lead scientists for Mucopolysaccharidosis research studies include .

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