Prader-Willi-like (PWL) study

Phase 1

• Conditions: Prader-Willi-like phenotype; MedDRA version: 20.0Level: LLTClassification code 10018747Term: Growth hormoneSystem Organ Class: 100000004848; Therapeutic area: Diseases [C] - Hormonal diseases [C19]

• Registration Number: EUCTR2018-004729-97-NL
• Lead Sponsor: Dutch Growth Research Foundation

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2019-06-06
• Last Update Posted: 16 December 2019

Recruitment & Eligibility

• Status: Authorised-recruitment may be ongoing or finished
• Sex: All
• 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.
Are the trial subjects under 18? yes
Number of subjects for this age range: 64
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

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

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified