Clinical Trials Logo
  1. Home
  2. Phenylketonuria
  3. NCT01917344

The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study

Phenylketonuria Clinical Trial

Official title:
The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study

Clinical Trial Summary

Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly occur. Many adults with this disorder also suffer depression and anxiety. Using advanced electroencephalogram (EEG) and magnetic resonance imaging (MRI) techniques, including novel MR spectroscopy (MRS) we hope to discover why this distinct constellation of deficits occurs in PKU. Adult subjects with PKU will undergo EEG and comprehensive MRI evaluations, including a novel method of MR spectroscopy to determine brain phenylalanine levels. In addition, they will receive neurological and neuropsychological examinations and dietary evaluation.

Clinical Trial Description

n/a

Study Design

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT01917344
Study type Interventional
Source Children's Hospital Boston
Contact
Status Completed
Phase N/A
Start date August 2013
Completion date June 2014
View Details
See also
  Status Clinical Trial Phase
Completed NCT05099640 - A Study of PTC923 in Participants With Phenylketonuria Phase 3
Completed NCT01924026 - Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study N/A
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 NCT01965691 - Protein Requirements in Children With Phenylketonuria (PKU) N/A
Completed NCT01965912 - Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Phase 4
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