Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease
Condition: Mucopolysaccharidosis I; Hurler Syndrome; Hurler-Scheie Syndrome; Scheie Syndrome
MeSH terms: Mucopolysaccharidoses; Mucopolysaccharidosis I; Syndrome
Intervention: Aldurazyme (Recombinant Human Alpha-L-Iduronidase)
Intervention description: 0.58 mg/kg every week
Phase: Phase 3
Study type: Interventional
Primary purpose: Treatment
Intervention model: Single Group Assignment
Masking: None (Open Label)
Enrollment: 3.0
Sex: All
Healthy volunteers: No
Keywords: MPS I Disease

Summary:

      This is a multi-center, open label, study conducted to evaluate the safety of laronidase
      administered by intravenous drip infusion in Japanese patients with MPS I disease.

      Following baseline evaluation, patients will receive weekly infusions of JC0498 at an
      intravenous dose of 100 units/kg. Patient safety will be monitored continuously throughout
      the trial. In addition, the effects of JC0498 treatment in this patient population will be
      assessed by periodically evaluating aspects of MPS I disease in patients at scheduled
      intervals over the duration of the trial.

      Since patients may be eligible for the trial if they have received JC0498, a portion of the
      data may be captured retrospectively and recorded onto the case report forms (CRFs).

      This study represents the first good clinical practice (GCP) effort to characterize MPS I in
      the Japanese population and evaluate the effects of JC0498 on disease manifestations.
    

Eligibility criteria:

        Inclusion Criteria:

          -  Written informed consent/assent of the patient or written informed consent of the
             parent(s) or the legal guardian(s), depending on the age of the patient, is required
             prior to any protocol-related procedures being performed; this includes information
             regarding hematopoietic stem cell transplantation (HSCT) in order to assure that the
             guardian(s) is fully informed regarding the risks and benefits of this alternative
             treatment for patients eligible for the trial and who have severe manifestations of
             MPS I with neurodegeneration.

          -  Have a clinical diagnosis of MPS, confirmed by measurable clinical signs and symptoms
             of MPS I.

          -  Have confirmed iduronidase deficiency with a leukocyte alpha-L-iduronidase enzyme
             activity level of less than 10.0% of the lower limit of the normal range of the
             measuring laboratory (SRL)

        Exclusion Criteria:

          -  The patient is under consideration for or has previously undergone hematopoietic stem
             cell transplantation.

          -  The patient has acute hydrocephalus at the time of enrollment.

          -  The patient has a clinically significant organic disease (with the exception of
             symptoms relating to MPS I) including: cardiovascular, hepatic, pulmonary, neurologic,
             or renal disease, other serious intercurrent illness, or extenuating circumstances
             that, in the opinion of the Investigator, would preclude participation in the trial or
             potentially decrease survival.

          -  The patient has received any investigational product within 30 days prior to trial
             enrollment (exception: JC0498).

          -  The patient has known severe hypersensitivity to JC0498 or components of the delivery
             solution.