Clinical Trials Logo

Clinical Trial Summary

Phenylketonuria (PKU) is a genetic disorder known to cause severe reduction in intelligence and deficits in cognitive function; it is associated with an elevated level of Phenylalanine (Phe) in blood.

Newborn screening and early treatment with restricted protein diet supplemented by a formula of amino-acids will preserve intelligence. In those with the severe form treated from birth, some deficits that affect higher functions of the brain are seen.

Given this, there is disagreement about how milder forms of this disease should be managed and what level of Phe is safe to be left untreated.

We seek to assess whether higher Phe levels, between 360 and 600µmol/L, are safe with respect to preservation of intelligence and higher cognitive functions.


Clinical Trial Description

The following personal/medical information will be collected and reviewed:

- Evaluation of current and past medical history, including psychological treatment such as medication and counseling/therapy.

- Mutational analysis for each MHP subject

- Detailed history of educational, employment, relationship, and socioeconomic status/achievements as a measure of successful transition to adulthood

- Diet history, including past treatment with medical food or Sapropterin (Kuvan) for pre-conceptual and pregnancy Phe management

- All available untreated Phe levels, including newborn screening results (where possible) will be collated to calculate lifetime mean Phe level. Age at collections will be recorded separately for each MHP subjects to ensure inclusion of Phe levels beyond infancy

The following clinical investigations will be administered:

- Measurement of Phe and Tyrosine after an overnight fast, via blood spot using tandem mass spectrometry analysis. Blood spot collection will be done at the same time of day for all subjects.

- Physical exam, height and weight measurements

- Food Frequency Questionnaire assessment to estimate typical daily intake of natural protein.

- Self-Report Questionnaires:

- Behavior Rating Inventory of Executive Function (BRIEF)-A

- Beck Anxiety Inventory

- Beck Depression Inventory

- Quality of Life questionnaire

- Neuropsychological Tests assessed by a trained psychologist

An informant BRIEF-A report will be completed for each subject. To ensure consistency in rating, the same informant will be used where possible for the MHP subject and their sibling control (i.e. parents). These questionnaires will be mailed to the informants and returned to the study site via FedEx. ;


Study Design

Observational Model: Case Control, Time Perspective: Cross-Sectional


Related Conditions & MeSH terms


NCT number NCT01924026
Study type Observational
Source The Hospital for Sick Children
Contact
Status Completed
Phase N/A
Start date September 2013
Completion date February 2016

See also
  Status Clinical Trial Phase
Completed NCT05099640 - A Study of PTC923 in Participants With Phenylketonuria Phase 3
Completed NCT01428258 - Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria N/A
Completed NCT00925054 - Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU Phase 2
Completed NCT00778206 - PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry
Recruiting NCT05948020 - Efficacy and Safety of Orally Administered Engineered Probiotics (CBT102-A) for the Treatment of Children With Phenylketonuria N/A
Recruiting NCT05781399 - First-in-Human, Multiple Part Clinical Study of JNT-517 in Healthy Participants and in Participants With Phenylketonuria Phase 1
Completed NCT02555579 - Simplified Diet Approach in Phenylketonuria N/A
Completed NCT03097250 - MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria
Completed NCT01965912 - Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Phase 4
Completed NCT01965691 - Protein Requirements in Children With Phenylketonuria (PKU) N/A
Completed NCT00688844 - Nutritional and Neurotransmitter Changes in PKU Subjects on BH4 N/A
Completed NCT00789568 - A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Phase 1
Terminated NCT01465100 - Liver Cell Transplant for Phenylketonuria Phase 1/Phase 2
Completed NCT01732471 - Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria Phase 3
Completed NCT04879277 - Study of Low-grade Systemic Inflammation in Adult Patients With Phenylketonuria N/A
Completed NCT02176603 - Observational Study of Endothelial Dysfunction in Phenylketonuria N/A
Terminated NCT01904708 - Moderate Intensity Exercise and Phenylketonuria N/A
Completed NCT01869972 - Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia N/A
Completed NCT01819727 - An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Phase 3
Completed NCT01560286 - A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks Phase 2