Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria

Launched by RIGSHOSPITALET, DENMARK · Mar 22, 2024

Keywords

ClinConnect Summary

This clinical trial is exploring a new treatment option for adults with Classical Phenylketonuria (PKU), a condition that affects how the body processes certain proteins. The study is looking at the effectiveness of Large Neutral Amino Acids (LNAAs) compared to the traditional dietary treatment, focusing on how these treatments impact brain function, mental health, and safety. If successful, this could offer a different approach to managing PKU that might improve brain chemistry and overall well-being.

To participate in this trial, individuals need to be at least 18 years old and have confirmed PKU, typically identified through genetic testing or previous medical history. Participants should have started treatment for PKU within the first month of life and have maintained a conventional dietary plan until they were at least 15 years old. They also need to have a certain level of cognitive ability, as assessed by an initial evaluation. During the study, participants will receive careful monitoring and will be asked to follow specific guidelines. It's important for potential participants to know that certain health conditions or medications might exclude them from joining the study.

Gender

ALL

Eligibility criteria

• • 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