A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients

• Status: Completed
• Trial end date: 2019-10-25
• Target enrollment: 0
• Participant gender: All

Summary

MPS IIIA, also known as Sanfilippo A, is an inherited lysosomal storage disease (LSD). MPS IIIA is caused by a deficiency in sulfamidase, one of the enzymes involved in the lysosomal degradation of the glycosaminoglycan (GAG) heparan sulfate (HS). The natural course of MPS IIIA is characterized by devastating neurodegeneration with initially mild somatic involvement. The aims of the present study is to assess the dose related safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of SOBI003, a chemically modified recombinant human (rh) Sulfamidase developed as an enzyme replacement therapy (ERT).

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Swedish Orphan Biovitrum

Criteria

Inclusion Criteria:

1. Informed consent obtained from the patient's legally authorized representative(s)

2. Patients with MPS IIIA, as confirmed by both:

• A documented deficiency in sulfamidase enzyme activity in concordance with a diagnosis of MPS IIIA, and

• Normal enzyme activity level of at least one other sulfatase measured in leukocytes

3. Chronological age of ≥12 and ≤72 months (i.e., 1 to 6 years) at the time of the first SOBI003 infusion and a developmental age ≥12 months at screening as assessed by the Vineland Adaptive Behavior Scales, Second Edition (VABS-II)

4. Medically stable patient who is expected to be able to comply with study procedures

Exclusion Criteria:

1. At least one S298P mutation in the SGSH gene

2. Contraindications for anesthetic procedures, surgical procedure (venous access port) MRI scans and/or lumbar punctures

3. History of poorly controlled seizures

4. Patients is currently receiving psychotropic or other medications which in the investigator's opinion, would be likely to substantially confound test results

5. Significant non-MPS IIIA-related central nervous system (CNS) impairment or behavioral disturbances, which in the investigator's opinion, would confound the scientific integrity or interpretation of study assessments

6. Prior administration of stem cell or gene therapy, or ERT for MPS IIIA

7. Concurrent or prior (within 30 days of enrolment into this study) participation in a study involving invasive procedures