Phenylketonuria: dopamine transmission and relationship with phenylalanine levels and cognitive performance in adults * a pilot study

Phenylketonuria: dopamine transmission and relationship with phenylalanine levels and cognitive performance in adults * a pilot study - Dopamine in adults with PKU

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON37892

Enrollment

Registered

2012-05-14

Start date

2013-01-04

Completion date

Unknown

Last updated

2024-05-06

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

Conditions

phenylketonuria

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: The core population for this research protocol comprises PKU subjects aged *18 years, diagnosed by newborn screening and treated with a phenylalanine-restricted diet until the age of *15 years.

Exclusion criteria

Exclusion criteria: * Mental incapacitation * Drug or alcohol misuse * Concomitant or past severe medical conditions * Current or previous exposure to antipsychotic or psychostimulant medication * Current use of sapropterin dihydrochloride (Kuvan®) * Current exposure to medication that contains aspartame * Lack of fluency in Dutch * Inability to comply with study procedures * Additional for females; breastfeeding or pregnancy based on the urine *-human Chorionic Gonadotrophin (*-HCG) test * Iodine allergy; exclusion of [123I]IBZM SPECT * MRI/ MRS exclusion criteria; presence of pacemakers, aneurysm clips, artificial heart valves, ear implants, metal fragments or foreign objects in the eyes, skin or body

Design outcomes

Primary

Measure	Time frame
To compare postsynaptic DA receptor binding and brain Phe levels of adults with lower blood Phe levels (800 *mol/L).	—

Secondary

Measure	Time frame
2. To correlate DA receptor binding with blood and brain Phe levels. 3. To correlate DA receptor binding with cognitive function. 4. To correlate blood and brain Phe levels with cognitive function. 5. To correlate DA receptor binding with peripheral catecholamine metabolite levels. 6. To correlate neuropsychological test performance (eye movement tasks) with DA receptor binding and cognitive function.	—

Measure

Time frame

2. To correlate DA receptor binding with blood and brain Phe levels. 3. To correlate DA receptor binding with cognitive function. 4. To correlate blood and brain Phe levels with cognitive function. 5. To correlate DA receptor binding with peripheral catecholamine metabolite levels. 6. To correlate neuropsychological test performance (eye movement tasks) with DA receptor binding and cognitive function.

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Countries

Netherlands

Outcome results