Dopaminergic neurotransmission and cognitive decline in velocardiofacial syndrome - Dementia in VCFS

Conditions: Dementia in velocardiofacial syndrome
MedDRA version: 8.1Level: LLTClassification code 10012267Term: Dementia

Registration Number: EUCTR2006-006203-36-NL

Lead Sponsor: Academic Medical Centre (AMC)

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Authorised-recruitment may be ongoing or finished

Sex: All

Target Recruitment: Not specified

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

Pregnancy

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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?<br>;Secondary Objective: -How will these patients react on a trial of four weeks AMPT (1 g daily) intervention?<br>-Is there a connection between a low activity COMT gene, the length of the deletion and dopaminergic and behavioural outcome measures?<br>-Is it possible after the one time gift (challenge) to forsee the effects of the trial?<br>-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)

Secondary Outcome Measures