Dementia in velocardiofacial syndrome MedDRA version: 8.1 Level: LLT Classification code 10012267 Term: Dementia
Conditions
Interventions
Product Name: Metyrosine
Product Code: MSD 690
Pharmaceutical Form: Capsule*
Sponsors
Academic Medical Centre (AMC)
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 40 patients with VCFS age 18 and older and an IQ below 55. Of these twenty will have a premorbid functioning without a cognitive decline and twenty will have a higher premorbid functioning with a cognitive decline 20 healthy volunteers and 20 patients with VCFS and no psychosis and cognitive decline. The last group (20 healthy and 20 VCFS patients with no psychoses) have been investigated in another study (MEC 04/200) and will be used as controles in our group. Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes 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: Pregnancy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: How is dopaminergic neurotransmission affected in adult patients with VCFS who are functioning on an intellectual level of moderate to severe impairment (IQ < 55) by a) a strong cognitive decline or b) a premorbid level of functioning? ;Secondary Objective: -How will these patients react on a trial of four weeks AMPT (1 g daily) intervention? -Is there a connection between a low activity COMT gene, the length of the deletion and dopaminergic and behavioural outcome measures? -Is it possible after the one time gift (challenge) to forsee the effects of the trial? -Describe the behavioural phenotype of patients with VCFS and an IQ below 55. ;Primary end point(s): Metabolites measured at end point (after challenge and after trial of 4 weeks) | — |
Countries
Netherlands
Outcome results
None listed