The Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria

NCT02297347 | Completed

• 1 other identifier: IRB-P00015326
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief 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. In this study the investigators will examine adults with PKU on sapropterin dihydrochloride (Kuvan) treatment for PKU and compare their results to those of subjects with PKU not on Kuvan. Using magnetic resonance imaging (MRI) techniques, including novel MR spectroscopy (MRS) the investigators hope to discover why this distinct constellation of deficits occurs in PKU. Adult subjects with PKU will undergo a comprehensive MRI evaluations, including a novel method of MR spectroscopy to determine brain phenylalanine levels. In addition, participants will receive neurological and neuropsychological examinations and dietary evaluation.

Conditions

Phenylketonuria

Outcome Measures

Primary Outcomes (1)

• Phenylalanine (phe) level in the brain as determined by MR Spectroscopy

  Brain phe described as umol/L through MR Spectroscopy in both the , posterior cingulate gyrus (PCG) and parietal white matter (PWM)

  one day

Secondary Outcomes (2)

• Full Scale IQ

  one day

• Brain tyrosine (tyr) level as determined by MR Spectroscopy

  one day

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Adults with PKU on Kuvan treatment for at least one month prior to enrolling in the study.

You may qualify if:

• Adult with classic PKU currently on Kuvan treatment for at least one month.
• Age 18-55 years
• Medical Records available that include blood phenylalanine levels during the first 6 years of life.
• Capable of providing informed consent
• Able to undergo MRI procedures without sedating medication
• Does not have metal implants, braces, or permanent retainers.

You may not qualify if:

• Mild PKU or mild hyperphenylalaninemia
• Less than 18 years old or greater than 55 years old
• No medical records available for the first 6 years of life
• Not capable of providing informed consent
• Not able to undergo MRI without sedating medication
• Has metal implants, braces or permanent retainers
• Currently involved in any clinical trial

Sponsors & Collaborators

• Boston Children's Hospital: lead
• Beth Israel Deaconess Medical Center: collaborator
• 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 ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Psychology

Study Record Dates

• First Submitted: November 19, 2014
• First Posted: November 21, 2014
• Study Start: April 1, 2015
• Primary Completion: April 1, 2017
• Study Completion: April 1, 2017
• Last Updated: February 5, 2018

Record last verified: 2018-02

Locations

US (1)