Prospective study on the metabolic and linear growth effects of growh hormone treatment in children with Kabuki Syndrome
- Conditions
- Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]Kabuki Syndrome (KS, OMIM 147920) with a mutation in MLL2 gene.
- Registration Number
- EUCTR2012-000432-26-NL
- Lead Sponsor
- Maastricht University Medical Centre
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Authorised-recruitment may be ongoing or finished
- Sex
- All
- Target Recruitment
- Not specified
-Children with the MML2 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.
Are the trial subjects under 18? yes
Number of subjects for this age range: 20
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range
-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 clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method