Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria
Safety and Efficacy of Treatment With Large Neutral Amino Acids in Patients With Classical Phenylketonuria
Rigshospitalet, Denmark
30 participants
Nov 1, 2024
INTERVENTIONAL
Conditions
Summary
The overall aim of this study is to evaluate LNAA treatment as a potential alternative to conventional dietary treatment for PKU. This study investigates the effects of LNAA treatment compared to the classic dietary treatment on cerebral dopamine synthesis in patients with classic PKU. We will assess LNAAs effectiveness on neurotransmitter synthesis, cognitive function, mental health, and safety, compared to the standard diet.
Eligibility
Inclusion Criteria6
- 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
- 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 Criteria8
- 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
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Interventions
PreKUnil® LNAA Medical Food for PKU is a commercially available active LNAA treatment product for PKU.
Locations(2)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT06337864