Randomized, controlled growth hormone study in children and adolescents with a Prader-Willi-like phenotype, followed by a two year open-label growth hormone study - effects on body composition, growth, psychosocial development and quality of life

Phase 3

• Conditions: Prader-Willi-like syndrome; PWL; 10083624; 10021112; 10057167

• Registration Number: NL-OMON48505
• Lead Sponsor: Stichting Kind en Groei

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 64

Inclusion Criteria

- Prader-Willi-like phenotype, according to the PWL criteria (see below), or
with a proven molecular diagnosis of a uniparental disomy of chromosome 14
(mUPD14), or a mutation or duplication in the 15q11.2-q13 region (PWS-critical
region).
- Absence of a molecular diagnosis of PWS. This includes a type 1 (from
breakpoint 1 to breakpoint 4) or type 2 (from breakpoint 2 to breakpoint 4)
deletion, a uniparental disomy or imprinting center defect of the 15q11.2-q13
region.
- Age:
o Boys: 4 to 16 years
o Girls: 4 to 14 years.
- Written informed consent. , PWL criteria:
The PWL phenotype is present in case of the following symptoms:
• Hyperphagia and/or rapid weight gain between the ages of 1 and 8 years
AND
• Developmental/psychomotor delay (IQ<85 and/or enrolment in a school for
children with special needs)
AND
• One or more of the following symptoms:
o Infantile central hypotonia
o Behavioural problems (temper tantrums, (auto)aggression, autistic and/or
obsessive compulsive behaviour
o Poor speech
o Vision abnormalities (e.g. myopia, esotropia)
o Short stature (as defined by < -2SD-score, or -2SD relative to the target
height)
o Small hands and feet for height and/or age.
N.B. Patients diagnosed with UPD14 or a mutation/duplication in the 15q11.2
(Prader-Willi critical) region do not have to meet the PWL-criteria.

Exclusion Criteria

- Non-cooperative behavior
- Extremely low dietary intake of less than the minimally required intake
according to WHO
- Use of medication to reduce weight
- BMI > +4SD
- Height velocity <1 cm per year and/or closed epiphyseal growth plates, as
determined by an x-ray of the hand
- Pregnancy

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main study parameter will be the difference of the change in body fat<br /><br>percentage between the treatment group and control group during the first six<br /><br>months after the start of the study, as assessed by the DXA scan.</p><br>