Intranasal insulin will improve development and behaviour in children with Phelan-McDermid syndrome.
ID
Bron
Verkorte titel
Aandoening
Phelan-McDermid syndrome, 22q13.3 deletion syndrome, insulin, intranasal, development, behaviour.
Dutch: Phelan-McDermid syndroom, 22q13.3 deletie syndroom, insuline, intransasaal, ontwikkeling, gedrag.
Ondersteuning
Onderzoeksproduct en/of interventie
Uitkomstmaten
Primaire uitkomstmaten
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).
Achtergrond van het onderzoek
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.
Doel van het onderzoek
Intranasal insulin will improve development and behaviour in children with Phelan-McDermid syndrome.
Onderzoeksopzet
T = 0, 6, 12 and 18 months.
Onderzoeksproduct en/of interventie
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.
Publiek
C.M.A. Ravenswaaij-Arts, van
Groningen 9700 RB
The Netherlands
+31 (0)50 3617229
c.m.a.van.ravenswaaij@umcg.nl
Wetenschappelijk
C.M.A. Ravenswaaij-Arts, van
Groningen 9700 RB
The Netherlands
+31 (0)50 3617229
c.m.a.van.ravenswaaij@umcg.nl
Belangrijkste voorwaarden om deel te mogen nemen (Inclusiecriteria)
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.
Belangrijkste redenen om niet deel te kunnen nemen (Exclusiecriteria)
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.
Opzet
Deelname
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Andere (mogelijk minder actuele) registraties in dit register
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In overige registers
| Register | ID |
|---|---|
| NTR-new | NL3600 |
| NTR-old | NTR3758 |
| Ander register | METC / ABR : 2012/329 / NL-41213-042-12; |
| ISRCTN | ISRCTN wordt niet meer aangevraagd. |