Phenylketonuria
Conditions
Sponsors
Amsterdam UMC / Amsterdam Public Health (Personalized Medicine)
Eligibility
Inclusion criteria
Inclusion criteria: - Minimum age of 18 years. - On or off Phe-restricted diet. - A definite diagnosis of classical PKU according to well-established guidelines. - Meet DSM-5 criteria for ADHD and diagnosed with ADHD by an expert multidisciplinary team consisting of an ID physician, a psychologist, and a psychiatrist. - Suffering from ADHD symptoms for which a dietary intervention would not suffice to improve behavioural problems. - Presence of a patient’s caregiver for proxy-reports.
Exclusion criteria
Exclusion criteria: - Unable to take and/or send in dried blood spots. - Unable to obtain informed consent from legal representative. - Presence of ADHD in first- and second-degree relatives. - Presence of a contra-indication for treatment with methylphenidate (e.g. cardiovascular disease). - Planned surgery and/or general anaesthesia during the trial. - Pregnancy. - Breastfeeding (females). - During treatment with non-selective, irreversible monoamine oxidase (MAO) inhibitors, or within a minimum of one month of discontinuing those drugs. - Current treatment with acetazolamide, thiazide-diuretic and sodium bicarbonate, or sympathicomimetics. - Current substance or alcohol abuse. - Unable to swallow tablets / capsules.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary outcome measure is Goal Attainment Scaling. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary outcome measures are: 1) the Strengths and Difficulties Questionnaire (SDQ) - subschale hyperactivity/inattention 2) Emotion Dysregulation Inventory (EDI) 3) the Personal Questionnaire (PQ) to identify the three most obstructive symptoms experienced by participants 4) serum phenylalanine levels 5) adverse effects of methylphenidate. | — |
Contacts
Public ContactAgnies Van Eeghen
Amsterdam UMC
Outcome results
None listed