Evaluating Large Neutral Amino Acids for Treating Phenylketonuria

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to assess the effectiveness of Large Neutral Amino Acids (LNAA) as an alternative treatment for adults with classical Phenylketonuria (PKU), compared to the traditional phenylalanine-restricted diet. It will investigate the impact of LNAA on cerebral dopamine synthesis, cognitive function, and mental health. The study will utilize a randomized, open-label, crossover design, allowing participants to experience both treatment approaches. Additionally, a healthy control group will be included to establish baseline measures, and participants may have the option to continue in an open-label extension study for long-term evaluation.

Why it matters

Who can join: the full rules

Patients ≥ 18 years of age with Classical PKU molecularly confirmed via the finding of two pathogenic variants in the phenylalanine hydroxylase (PAH) gene and/or historical evidence of Phe concentrations ≥1200 μmol/L in the medical history

Inclusion Criteria:

* Treatment initiation within the first month of life
* Intelligence quotient over 84, based upon the baseline neuropsychological evaluation
* Conventional dietary treatment up to minimum 15 years of age
* Signed informed consent
* Willing and able to comply with the protocol and study procedures

Exclusion Criteria:

* Unable or unwilling to adhere to the requirements of the study
* A female who is pregnant or breastfeeding or planning to get pregnant during the study period
* Concomitant medication that may interfere with the PET analysis, as judged by the investigator
* A serious neuropsychiatric disease that could interfere with the subject's ability to participate in the study at the discretion of the investigator
* Concomitant treatment with BH4 supplementation (sapropterin) or Pegvaliase-pqpz (PALYNZIQ)
* Failing to submit at least one blood Phe home sample during the year before study initiation
* Standard MRI contraindications
* Body weight over 110 kg

Where it's running

• Center for Inherited Metabolic Diseases
  Copenhagen, Denmark Recruiting
• Copenhagen University Hospital, Rigshospitalet
  Copenhagen, Denmark Not yet recruiting

Study contacts

• Principal investigator: Allan Lund, Professor, MD, DMSc — Copenhagen University Hospital, Rigshospitalet
• Study coordinator: Allan Lund, Professor, MD, DMSc
• Email: allan.lund@regionh.dk
• Phone: +4535451303

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.