Actively Recruiting
Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria
Led by Rigshospitalet, Denmark · Updated on 2025-04-06
30
Participants Needed
2
Research Sites
99 weeks
Total Duration
On this page
Sponsors
R
Rigshospitalet, Denmark
Lead Sponsor
P
Prekulab Ltd ApS
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients 18 to 50 years old with classical PKU confirmed by two pathogenic variants in the PAH gene and/or historical Phe levels 600 bcmoL/L
- Treatment started within the first month of life
- Intelligence quotient above 84 based on baseline neuropsychological evaluation
- Conventional dietary treatment for at least 15 years
- Signed informed consent
- Willing and able to follow study procedures and protocol
You will not qualify if you...
- Unable or unwilling to follow study requirements
- Female participants who are pregnant, breastfeeding, or planning pregnancy during the study
- Taking medications that may affect PET imaging analysis as judged by the investigator
- Serious neuropsychiatric disease interfering with study participation
- Currently using BH4 supplementation (sapropterin) or Pegvaliase-pqpz (PALYNZIQ)
- Did not submit at least one blood Phe home sample during the year before the study
- Standard MRI contraindications
- Body weight over 110 kg
AI-Screening
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Trial Site Locations
Total: 2 locations
1
Center for Inherited Metabolic Diseases
Copenhagen, Denmark, 2300
Actively Recruiting
2
Copenhagen University Hospital, Rigshospitalet
Copenhagen, Denmark
Not Yet Recruiting
Research Team
A
Allan Lund, Professor, MD, DMSc
CONTACT
O
Olivia Fjellbirkeland, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
RANDOMIZED
Model
CROSSOVER
Primary Purpose
TREATMENT
Number of Arms
2
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