Small stature Obesity Cardiovasculair disease/Metabolic syndrome Hyperlaxity Kleine lengte Obees Cardiovasculaire ziekten/metabool syndroom Hyperlaxiteit
Conditions
Interventions
All subjects receive recombinant human (rh)GH in accordance with international guidelines for developmental syndromes.
The subjects will be included in a prospective study. Total body water (TBW), T
Sponsors
Maastricht University Medical Centre (MUMC)
PO box 5800
6202 AZ Maastricht
The Netherlands
Eligibility
Inclusion criteria
Inclusion criteria: •Children with mutation in the KMT2D gene (also known as MLL2) or the KDM6A gene. •Children who meet at least four out of five KS characteristics: o 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. o Skeletal abnormalities. o Intellectual disability (mild to moderate). o Postnatal short stature. o Abnormalities of dermal ridges. •Informed consent. •Age ≥ four years.
Exclusion criteria
Exclusion criteria: •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. •Previous or active malignancy •Diabetes Mellitus
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Objective 1: Is there an increase in TEE during 6 weeks of treatment with rhGH in children with Kabuki Syndrome? Objective 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 after one and two years? Objective 3: What is the effect of rhGH treatment on metabolic risk parameters typical for the metabolic syndrome in adults? Objective 4: What are the characteristics of hyermobility in the Dutch children and adults with Kabuki Syndrome: -What is the prevalence of hypermobility -Which limbs / joints are affected by hypermobility, with or without (sub)luxation’s Are existing assessment tools for hypermobility (Beighton and Bulbena scores) usable in this population? Objective 5: What are the characteristics of body proportions in children with Kabuki Syndrome: -How are the body proportions in Kabuki syndrome children? -Are the body proportions in Kabuki syndrome children differently compared to the normal population? | — |
Secondary
| Measure | Time frame |
|---|---|
| -To assess the long-term (at start, after one and two years of treatment) term safety of growth hormone therapy on metabolic risk parameters and body composition. -Does rhGH treatment lead to a diminished degree of hypermobility and, because of that, to less (sub)luxations? -Does the body composition changes during rhGH treatment? | — |
Contacts
Public ContactD.A. Schott
Department of paediatrics Maastricht University Medical Centre (MUMC) PO box 5800
Outcome results
None listed