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Dopaminergic neurotransmission and cognitive decline in velocardiofacial syndrome

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

Status
Unknown
Phases
Unknown
Study type
Interventional
Source
NL-OMON
Registry ID
NL-OMON31666
Enrollment
40
Registered
2008-07-22
Start date
2008-07-01
Completion date
Unknown
Last updated
2024-05-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

cognitive decline dementia

Interventions

Once only administration (orally) of 1,5 gram AMPT (challenge). In advance en afterwards determination of parameters in blood and urine. 4 week AMPT trial of twice daily administration of 0,5 gram AM

Sponsors

Academisch Medisch Centrum
Lead Sponsor

Eligibility

Age
18 Years to 99 Years

Inclusion criteria

Inclusion criteria: Possession of del 22q11.2 Premorbid IQ of above 70 en now below 55 Premorbid IQ below 55 Only for the intervention group: serious behavioural and/or refractory psychiatric problems to treatment so far

Exclusion criteria

Exclusion criteria: pregnancy

Design outcomes

Primary

MeasureTime frame
In plasma (T0,3,6) : HVA, MHPG, VMA, prolactine, level AMPT, proline In urine (T0,6): HVA, MHPG, VMA, dopamine and norepinephrine, proline Genotype (DNA isolation T0): COMT Val/Met polymorphism, other COMT polymorphisms. COMT enzyme activity in erytrocytes or lymphocytes

Secondary

MeasureTime frame
Extrapyridamal side effects; IQ; Dementia rating scales (DMR and DSDS); psychiatric symptomatology (PASSAD); behaviour checklists (ABCL and SGZ); IQ measurements with Wechsler IQ scales

Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)