Phelan-McDermid syndrome, 22q13.3 deletion syndrome, insulin, intranasal, development, behaviour. Dutch: Phelan-McDermid syndroom, 22q13.3 deletie syndroom, insuline, intransasaal, ontwikkeling, gedrag.
Conditions
Interventions
Clinical trial with stepped wedge design. Participants will start with either intranasal insulin or placebo, once or twice a day, one puff in one or both nostrils (dependent on body weight). By steps,
Sponsors
University Medical Centre Groningen
Eligibility
Inclusion criteria
Inclusion criteria: 1. Age between 12 months and 18 years 0 months old at 1-1-2013; 2. Proven SHANK3 deletion by array-comparative genomic hybridization (array-CGH); 3. Parents need to speak and understand Dutch.
Exclusion criteria
Exclusion criteria: 1. A contra-indication for the use of intranasal application (e.g. anatomical obstruction); 2. Severe perinatal brain damage (e.g. asphyxia, haemorrhage, infection); 3. A metabolic or muscle disease responsible for neurological symptoms, independent of the 22q13 deletion.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Developmental pace, calculated as the difference in developmental age equivalent between two assessments divided by the difference in calendar age in months at the time of these assessments (typically 6 months). | — |
Secondary
| Measure | Time frame |
|---|---|
| Behaviour, improvement of behaviour represented by the increase in test scores between assessment (typically 6 months). | — |
Contacts
Public ContactC.M.A. Ravenswaaij-Arts, van
Oostersingel ingang 47
Outcome results
None listed