Ignite Creation Date:
2024-05-06 @ 1:52 AM
Last Modification Date:
2024-10-26 @ 11:11 AM
Study NCT ID:
NCT01924026
Status:
COMPLETED
Last Update Posted:
2016-02-17
First Post:
2013-05-15
Brief Title:
Neurocognitive Outcomes in Mild Hyperphenylalaninemia MHPMHP Study
Sponsor:
The Hospital for Sick Children
Organization:
The Hospital for Sick Children
Study Overview
Official Title:
Neuropsychological and Quality of Life Outcomes in Untreated Adults With Mild Hyperphenylalaninemia MHPPhenylketonuria PKU With Phenylalanine Levels Between 360 and 600 µmolL Caused by Phenylalanine Hydroxylase PAH Deficiency
Status:
COMPLETED
Status Verified Date:
2016-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 600µmolL are safe with respect to preservation of intelligence and higher cognitive functions
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 600µmolL are safe with respect to preservation of intelligence and higher cognitive functions
Detailed Description:
The following personalmedical information will be collected and reviewed
Evaluation of current and past medical history including psychological treatment such as medication and counselingtherapy
Mutational analysis for each MHP subject
Detailed history of educational employment relationship and socioeconomic statusachievements 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 ie parents These questionnaires will be mailed to the informants and returned to the study site via FedEx
Evaluation of current and past medical history including psychological treatment such as medication and counselingtherapy
Mutational analysis for each MHP subject
Detailed history of educational employment relationship and socioeconomic statusachievements 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 ie parents These questionnaires will be mailed to the informants and returned to the study site via FedEx
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None