Phenylketonurias Clinical Trial
Official title:
Can Care of Adult PKU Be Improved With Additional Dietary Large Neutral Amino Acids: An N-of-1 Study
Verified date | November 2023 |
Source | University of Southern California |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Interventional |
This research investigates the effects of combining a phenylalanine restricted diet (usual care) with LNAA supplementation (adjuvant LNAA) in well-controlled adults with classical PKU. The hypothesis is that symptoms are improved in well-controlled patients who receive adjuvant LNAA therapy compared with diet monotherapy. Six symptomatic classical PKU adults will be enrolled to test the hypothesis in a small series of N-of-1 randomized controlled trials over 18-weeks. All assessments will be collected in patient's homes. A 3-month follow-up period will assess the longer-term effects of adjuvant LNAA in patients who show clinical benefit at the end of the intervention period.
Status | Active, not recruiting |
Enrollment | 10 |
Est. completion date | July 31, 2024 |
Est. primary completion date | July 31, 2024 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 18 Years and older |
Eligibility | Inclusion Criteria: - age = 18 years - diagnosis of classical PKU (blood phenylalanine =1200 µmol pre-treatment or off-treatment - = 2 PKU-related symptoms with clinically meaningful negative impact on daily life - is in regular clinical monitoring and is treated with a PKU diet with a natural protein restriction and medical foods - average blood phenylalanine levels between 360 and 900 µmol in past one year - able and willing to provide consent - demonstrates capacity to complete all requirements of the protocol - if on medications approved by the Principal Investigator agrees not to alter dose for duration of study - has stable daily access to phone, internet, and physical address Exclusion Criteria: - women who are breastfeeding, pregnant or planning to become pregnant in the next year - use of adjuvant PKU treatments (LNAAs, Kuvan®, Palinziq®) within past 3 months - use of psychotropic medications, melatonin, or any serotonin-reuptake inhibitors within past 3 months - demonstrates insufficient motivation or time required to complete full trial |
Country | Name | City | State |
---|---|---|---|
United States | University of Southern California | Los Angeles | California |
Lead Sponsor | Collaborator |
---|---|
University of Southern California | National PKU Alliance |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Personalized Symptom Index | Assesses the subjective effect of the interventions on the personally relevant two most bothersome symptoms for the individual patient as identified in a Symptom Elicitation Interview | 3 weeks | |
Secondary | Absolute plasma phenylalanine concentration, dried blood spots (finger-prick method) | Primary FDA-qualified biomarker for PKU | 3 weeks | |
Secondary | Fasting plasma LNAAs, dried blood spots (finger-prick method) | Secondary biomarkers such as the plasma Phe/Tyr ratio, Tyr/LNAA, Trp/LNAA ratio | 3 weeks | |
Secondary | Urine peripheral biomarkers of neurotransmitters, dried urine spots | 6-sufatoxymelatonin and dopamine | 3 weeks | |
Secondary | Computerized neuropsychological testing (responses over study iPad from home) | Cambridge Neuropsychological Test Automated Assessment Battery (CANTAB) customized for study | 3 weeks | |
Secondary | PKU-QOL Questionnaire Adult version (responses over study iPad from home) | 65-item (20 min) Patient-Reported Outcome Measure of the impact of PKU and the PKU diet on quality of life | 3 weeks | |
Secondary | Psychological General Well-Being Index (responses over study iPad from home) | 22-item (15 min) Patient-Reported Outcome Measure of well-being | 3 weeks | |
Secondary | Adult ADHD Self-Report Scale (ASRS v1.1) | 9-item inattention subscale (10 min) Patient-Reported Outcome Measure of attention | 3 weeks | |
Secondary | 3-Day Diet Record | Complete recording of 24-hr intake for 3 days (45 min) | 3 weeks |
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