Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria

ConditionsBrain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Genetic Diseases, Inborn Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors Metabolic Disease Phenylketonurias

Trial statusRecruiting

Trial phaseNot applicable

Trial typeInterventional

Biological sexAll

Age18-50

SponsorRigshospitalet, Denmark

About this trial

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 criteria

This trial accepts healthy volunteers

Qualifiers

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

Disqualifiers

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

Trial design

Design model

Crossover

Treatments tested in this trial

PreKUnil® LNAA Medical Food for PKU
Other intervention
PreKUnil® LNAA Medical Food for PKU is a commercially available active LNAA treatment product for PKU.

Treatment groups

30 Participants

are divided into 2 treatment groups

Group A: LNAA supplementation, Then Low-Phe dietExperimental treatment 1 intervention

Group B: Low-Phe diet, Then LNAA supplementationExperimental treatment 1 intervention

Trial outcomes

Primary outcomes

Dynamic positron emission tomography (PET) imaging with the fluorine-18-labeled tracer [18F]-(E)-N-(3-iodoprop-2-enyl)-2β-carbofluoroethoxy-3β-(4'-methyl phenyl)nortropane ([18F]FE-PE2I)

Change in specific binding ratio of dopamine transporter (DaT) with \[18F\]FE-PE2I

Time frame

Crossover study: at 8, 10 and 18 weeks from baseline, Extension study: at 12 months from baseline

Secondary outcomes

Urine peripheral biomarkers of neurotransmitters

6-sulfatoxymelatonin and dopamine

Time frame

Crossover study: at baseline, 8, 10 and 18 weeks from baseline, Extension study: at 12 months from baseline

Incidence and severity of treatment-emergent adverse events (TEAEs)

Subjects with at least one TEAE or serious TEAE

Time frame

Baseline to week 80

Adult attention deficit hyperactivity disorder (ADHD) Self-Report Scale (ASRS v1.1)

Patient-Reported Outcome Measure of attention in adults, 0-23, lowest is best

Time frame

Crossover study: at baseline, 8, 10 and 18 weeks from baseline, Extension study: at 12 months from baseline

Symptom Checklist-90-Revised (SCL-90-R)

Patient-Reported Outcome Measure of psychopathological symptoms, percentile, lowest is best

Time frame

Crossover study: at baseline, 8, 10 and 18 weeks from baseline, Extension study: at 12 months from baseline

Other outcomes

Brain Magnetic Resonance Imaging (MRI)

Percent of patients with anatomic anomalies on MRI of the brain

Time frame

Inclusion

Wechsler Adult Intelligence Scale (WAIS) - IV

Baseline measure of cognitive ability, 40-160, highest is best

Time frame

Inclusion

Fasting plasma amino acids, dried blood spots (finger-prick method)

Biomarkers such as the plasma Phe, Phe/Tyr ratio, Tyr/LNAA, Trp/LNAA ratio

Time frame

Crossover study: at baseline, 8, 10 and 18 weeks from baseline, Extension study: at 12 months from baseline

Adherence to dietary treatment

3-day diet record

Time frame

Crossover study: at baseline, 8, 10 and 18 weeks from baseline, Extension study: at 12 months from baseline

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Rigshospitalet, Denmark

Lead sponsor

Prekulab Ltd ApS

Collaborator

Source ClinicalTrials.gov

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