Prospective study on the metabolic and linear growth effects of growh hormone treatment in children with Kabuki Syndrome
- Conditions
- Kabuki syndrome (KS)1002111210021605
- Registration Number
- NL-OMON39985
- Lead Sponsor
- Medisch Universitair Ziekenhuis Maastricht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 20
-Children with the KDM6A orKMT2D (MLL2) mutation.;-Children who meet at least four out of five KS characteristics:;#Facial features: long palpebral fissures with eversion of outer third, arched eyebrows with sparse outer half, prominent and/or misshapen ears, and depressed nasal tip.;#Skeletal abnormalities.;#Intellectual disability (mild to moderate).;#Postnatal short stature.;#Abnormalities of dermal ridges.;-Informed consent.;-Age >= four years.
-Children with a chronological or bone age greater than 8 years for girls and 10 years for boys, because of the influence of puberty.;-Extremely low dietary intake (less than minimal required intake for age according to WHO criteria). ;-Use of medication that might interfere with growth during GH therapy, such as corticosteroids and sex steroids.
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Is there an increase in TEE during 6 weeks treatment with rhGH in children with<br /><br>Kabuki Syndrome?<br /><br>What is the relation between the short-term (6 weeks) change in TEE as measured<br /><br>with the DLW technique and the long term change in height SDS during treatment<br /><br>with rhGH?<br /><br>What is the effect of rhGH treatment on metabolic risk parameters typical for<br /><br>the metabolic syndrome in adults?</p><br>
- Secondary Outcome Measures
Name Time Method <p>To assess the long (2 years) term safety of growth hormone therapy on metabolic<br /><br>risk parameters and body composition.<br /><br>What are the characteristics of hyermobility in the Dutch children with Kabuki<br /><br>Syndrome and does rhGH treatment lead to a diminished degree of hypermobility?<br /><br>What are the characteristics of body proportions in children with Kabuki<br /><br>Syndrome and does the body composition changes during rhGH treatment? </p><br>