No registrations found.
ID
Source
Brief title
Health condition
Phelan-McDermid syndrome, 22q13.3 deletion syndrome, insulin, intranasal, development, behaviour.
Dutch: Phelan-McDermid syndroom, 22q13.3 deletie syndroom, insuline, intransasaal, ontwikkeling, gedrag.
Sponsors and support
Intervention
Outcome measures
Primary outcome
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 outcome
Behaviour, improvement of behaviour represented by the increase in test scores between assessment (typically 6 months).
Background summary
Children with Phelan-McDermid syndrome have a severe general developmental delay and behavioural problems. The syndrome is caused by a deletion of 22q13.3 and the neurological problems are thought to result from haploinsufficiency of the SHANK3 gene. The SHANK3 protein is located in the postsynaptic density of neurons in conjunction with the insulin receptor. Insulin exerts effects on signal transduction and protein interactions in the postsynaptic density. Previous studies with intranasally administered insulin show a beneficial effect on cognitive function, declarative memory and behaviour. Moreover, a pilot study with six children demonstrated that intranasal insulin improves development and behaviour in children with the Phelan-McDermid syndrome.
The aim of this project is to validate the hypothesis that intranasal insulin improves development and behaviour in children with Phelan-McDermid syndrome.
Study objective
Intranasal insulin will improve development and behaviour in children with Phelan-McDermid syndrome.
Study design
T = 0, 6, 12 and 18 months.
Intervention
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, groups of participants will convert from placebo to intranasal insulin and remain on insulin until the end of the study.
C.M.A. Ravenswaaij-Arts, van
Groningen 9700 RB
The Netherlands
+31 (0)50 3617229
c.m.a.van.ravenswaaij@umcg.nl
C.M.A. Ravenswaaij-Arts, van
Groningen 9700 RB
The Netherlands
+31 (0)50 3617229
c.m.a.van.ravenswaaij@umcg.nl
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
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
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| NTR-new | NL3600 |
| NTR-old | NTR3758 |
| Other | METC / ABR : 2012/329 / NL-41213-042-12; |
| ISRCTN | ISRCTN wordt niet meer aangevraagd. |