Phelan-McDermid syndrome
Conditions
Interventions
Product Name: Insulin Intranasal 100IE/ml
Pharmaceutical Form: Nasal spray, solution
INN or Proposed INN: Insulin
CAS Number: 11061-68-0
Other descriptive name: Regular human insulin
Concentration uni
Sponsors
University Medical Center Groningen, Department of Genetics
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Age between 12 months and 18 years 0 months old at 1-1-2013 Proven SHANK3 deletion by array-comparative genomic hybridization (array-CGH) Parents need to speak and understand Dutch Are the trial subjects under 18? yes Number of subjects for this age range: 20 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
Exclusion criteria: A contra-indication for the use of intranasal application (e.g. anatomical obstruction) Severe perinatal brain damage (e.g. asphyxia, haemorrhage, infection) A metabolic or muscle disease responsible for neurological symptoms, independent of the 22q13 deletion
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: The objective of this trial is to validate the hypothesis that intranasal insulin improves development in children with Phelan-McDermid syndrome.;Secondary Objective: The secondary objective of this trial is to validate the hypothesis that intranasal insulin improves development in children with Phelan-McDermid syndrome.;Primary end point(s): The primary end point is developmental pace. Development is assessed by the Bayley-III-NL (Dutch version of the Bayley-III, Bayley, 2006) or WPPSI-III-NL (Dutch version of the WPPSI-III, Wechsler, 2009) dependent on the developmental age of the children. Both the Bayley-III and the WPPSI are individually administered tests that provide subtests and composite scores that represent general functioning. Developmental pace is 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), resulting in a value for developmental age increase / month.;Timepoint(s) of evaluation of this end point: 6, 12, 18 months after initiation of the clinical trial phase | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): The secondary end point is behaviour. Behaviour is assessed by the following questionnaires: Vineland screener, ESSEON, CBCL1,5-5, and Brief-P. To evaluate behaviour in several domains, raw scores are determined. ;Timepoint(s) of evaluation of this end point: 6, 12, 18 months after initiation of the clinical trial phase | — |
Countries
Netherlands
Contacts
Public ContactUMCG, Department of Genetics
University Medical Center Groningen, Department of Genetics
Outcome results
None listed