Efficacy of dietary suppletion genestein in patients with the MPS III (A follow-up study)
- Conditions
- MPS IIISanfilippo10021605
- Registration Number
- NL-OMON35077
- Lead Sponsor
- Academisch Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 30
Inclusion Criteria
The patient should have a biochemically confirmed deficiency of heparan-N-Sulphatase (MPS IIIA) or A-N-acetylglucosaminidase (MPS IIIB) or Acetyl CoA: alpha-glucosaminide N-acetyltransefrase (MPS IIIC). All patients who participated in the placebo controlled cross-over trial with genestein are allowed to participate in this study.
Exclusion Criteria
The parent/legal reprensentative is unwilling to participate
Patient underwent umbilical cord blood cell transplantation
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p> - urinary GAG excretion </p><br>
- Secondary Outcome Measures
Name Time Method <p>- serum heparan sulphate levels<br /><br>- GAG-accumulation in skin biopsies.<br /><br>- hair morphology<br /><br>- behaviour<br /><br>- neurocognitive function </p><br>