MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria

NCT03097250 | Completed

• 1 other identifier: IRB-P00025151
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Phenylketonuria

Keywords

PKU; Neuropsychology; MRI

Outcome Measures

Primary Outcomes (4)

• Neuropsychological functioning

  NIH Toolbox Cognitive Battery

  1 day

• Social/Emotional Outcome

  NIH PROMIS Questionnaires (Neuro QoL)

  1 day

• Blood Biomarkers

  Phenylalanine and Tyrosine (umol/L)

  2 days

• Brain Biomarkers

  Phenylalanine and Tyrosine (umol/L)

  2 days

Secondary Outcomes (1)

• Intellectual Functioning

  1 day

Study Arms (2)

PKU Subjects

Subjects with PKU will be asked to undergo an MRI and blood draw on Day 1 and Day 2 of the study. They will also receive neuropsychological testing on Day 1 of the study

Controls

Controls will undergo only one MRI and blood draw on Day 1 of the study. They will also receive neuropsychological testing on Day 1 of the study.

Eligibility Criteria

• Age: 12 Years - 25 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

This is an observational case-controlled study that will include adolescents and young adults with PKU (ages 12-25) and a matched comparison group of healthy individuals of the same age and sex.

You may qualify if:

• Age 12-25 years
• Not currently participating in a clinical trial
• Capable of providing informed assent/consent
• Able to undergo MRI procedures without sedation
• 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).
• PKU Group: identified by newborn screening; received treatment within the first 30 days of life
• PKU Group: Pre-treatment/off-diet blood Phe concentration at or above 600 umol/L

You may not qualify if:

• Older than 25 years or younger than 12 years of age.
• Currently participating in a clinical trial
• Incapable of providing informed assent/consent
• Pregnant women will be excluded
• Not able to tolerate MRI procedures without sedation
• Has metal implants or braces on teeth not compatible with MRI
• Has any known contraindication for MRI
• PKU Group: Pre-treatment/off-diet blood Phe concentration below 600 umol/L)
• PKU Group: Not identified through newborn screening or treatment was initiated after 30 days of life

Sponsors & Collaborators

• Boston Children's Hospital: lead
• Brigham and Women's Hospital: collaborator

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Susan E Waisbren, PhD

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Psychologist

Study Record Dates

• First Submitted: March 22, 2017
• First Posted: March 31, 2017
• Study Start: October 25, 2017
• Primary Completion: July 1, 2018
• Study Completion: July 1, 2018
• Last Updated: October 19, 2018

Record last verified: 2018-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)