Metabolic effects of growth hormone.
Recruiting
- Conditions
- Kabuki Syndrome (KS, OMIM 147920) multiple anomaly syndrome mutation MLL2 gene obesity, hypotonia and short stature.
- Registration Number
- NL-OMON22646
- Lead Sponsor
- Maastricht University Medical Centre
- Brief Summary
/A
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 20
Inclusion Criteria
1. Children with the MML2 mutation;
2. Children who meet at least four out of five KS characteristics:
Exclusion Criteria
1. Children with a chronological or bone age greater than 8 years for girls and 10 years for boys, because of the influence of puberty;
2. Extremely low dietary intake (less than minimal required intake for age according to WHO criteria);
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 1. Is there an increase in TEE during 6 weeks treatment with rhGH in children with Kabuki Syndrome?<br /><br>2. What is the relation between the short-term (6 weeks) change in TEE as measured with the DLW technique and the long term change in height SDS during treatment with rhGH?<br /><br>3. What is the effect of rhGH treatment on metabolic risk parameters typical for the metabolic syndrome in adults?
- Secondary Outcome Measures
Name Time Method To assess the long (1 year) term safety of growth hormone therapy on metabolic risk parameters and body composition.