Kabuki Syndrome (KS, OMIM 147920) multiple anomaly syndrome mutation MLL2 gene obesity, hypotonia and short stature.
Conditions
Interventions
Growth hormone treatment 1-1.4 mg/m2/day in 1 dd subcutaneous.
Sponsors
Maastricht University Medical Centre
Eligibility
Inclusion criteria
Inclusion criteria: 1. Children with the MML2 mutation; 2. Children who meet at least four out of five KS characteristics: A. 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; B. Skeletal abnormalities; C. Intellectual disability (mild to moderate); D. Postnatal short stature; E. Abnormalities of dermal ridges. 3. Informed consent; 4. Age ≥ four years.
Exclusion criteria
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); 3. Use of medication that might interfere with growth during GH therapy, such as corticosteroids and sex steroids.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Is there an increase in TEE during 6 weeks treatment with rhGH in children with Kabuki Syndrome? 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? 3. What is the effect of rhGH treatment on metabolic risk parameters typical for the metabolic syndrome in adults? | — |
Secondary
| Measure | Time frame |
|---|---|
| To assess the long (1 year) term safety of growth hormone therapy on metabolic risk parameters and body composition. | — |
Contacts
Public ContactC.T.R.M. Schrander-Stumpel
Department of Genetics Maastricht University Medical Centre (MUMC) PO box 5800
Outcome results
None listed