Phenylketonuria Clinical Trial
Official title:
MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria
NCT number | NCT03097250 |
Other study ID # | IRB-P00025151 |
Secondary ID | |
Status | Completed |
Phase | |
First received | |
Last updated | |
Start date | October 25, 2017 |
Est. completion date | July 1, 2018 |
Verified date | October 2018 |
Source | Boston Children’s Hospital |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
This is a study about the relationship of brain biomarkers with neuropsychological functioning in PKU. All participants will undergo MRI spectroscopy, will provide a blood specimen and will receive neuropsychological testing.
Status | Completed |
Enrollment | 10 |
Est. completion date | July 1, 2018 |
Est. primary completion date | July 1, 2018 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 12 Years to 25 Years |
Eligibility |
Inclusion Criteria: 1. Age 12-25 years 2. Not currently participating in a clinical trial 3. Capable of providing informed assent/consent 4. Able to undergo MRI procedures without sedation 5. Does not have metal implants (braces or permanent retainers made of MRI-compatible materials are permitted since we will not be doing procedures, such as DTI, affected by non-ferrous metals). 6. PKU Group: identified by newborn screening; received treatment within the first 30 days of life 7. PKU Group: Pre-treatment/off-diet blood Phe concentration at or above 600 umol/L Exclusion Criteria: 1. Older than 25 years or younger than 12 years of age. 2. Currently participating in a clinical trial 3. Incapable of providing informed assent/consent 4. Pregnant women will be excluded 5. Not able to tolerate MRI procedures without sedation 6. Has metal implants or braces on teeth not compatible with MRI 7. Has any known contraindication for MRI 8. PKU Group: Pre-treatment/off-diet blood Phe concentration below 600 umol/L) 9. PKU Group: Not identified through newborn screening or treatment was initiated after 30 days of life |
Country | Name | City | State |
---|---|---|---|
United States | Boston Children's Hospital | Boston | Massachusetts |
Lead Sponsor | Collaborator |
---|---|
Boston Children’s Hospital | Brigham and Women's Hospital |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Neuropsychological functioning | NIH Toolbox Cognitive Battery | 1 day | |
Primary | Social/Emotional Outcome | NIH PROMIS Questionnaires (Neuro QoL) | 1 day | |
Primary | Blood Biomarkers | Phenylalanine and Tyrosine (umol/L) | 2 days | |
Primary | Brain Biomarkers | Phenylalanine and Tyrosine (umol/L) | 2 days | |
Secondary | Intellectual Functioning | Full Scale IQ | 1 day |
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