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Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria (PKU)

This study is currently recruiting participants.
Verified March 2012 by Children's Research Institute
Sponsor:
Collaborator:
Georgetown University
Information provided by (Responsible Party):
Andrea Gropman, Children's Research Institute
ClinicalTrials.gov Identifier:
NCT01412437
First received: August 1, 2011
Last updated: March 5, 2012
Last verified: March 2012
History of Changes
  Purpose

The investigators will use different types of brain imaging (MRI) in patients with Phenylketonuria (PKU) who are currently not on a strict diet to test the hypothesis that there is improvement in brain circuitry and biochemistry after return to diet and/or sapropterin dihydrochloride (Kuvan).


Condition Intervention
PKU
 Dietary Supplement: diet
Drug: sapropterin dihydrochloride

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Multimodal Neuroimaging and Neurocognitive Assessment of Biomarkers and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria

Resource links provided by NLM:

MedlinePlus related topics: Phenylketonuria
U.S. FDA Resources

Further study details as provided by Children's Research Institute:

Primary Outcome Measures:
  • Neuroimaging biomarkers [ Time Frame: at 4 months ] [ Designated as safety issue: No ]
    An estimate of the change in white matter damage and biochemistry in participants with PKU after either diet/Kuvan


Secondary Outcome Measures:
  • Brain biochemistry [ Time Frame: at 4 months ] [ Designated as safety issue: No ]
    Assessment of cognitive systems abnormalities (by fMRI ) in the participant cohort after diet/Kuvan


Estimated Enrollment: 38
Study Start Date: April 2011
Estimated Study Completion Date: December 2012
Estimated Primary Completion Date: March 2012 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
No Intervention: Diet group
12 participants will be randomized to diet. Phe levels will be followed by blood levels. A dietician will analyze diet for phe content and advise
 Dietary Supplement: diet
12 participants will be randomized to diet. Phe levels will be followed by blood levels. A dietician will analyze diet for phe content and advise
Other Name: PKU diet
Experimental: drug group
24 participants will be randomized to receive the drug 10 mg/kg per day. Responders and non responders will remain on drug for four months
 Drug: sapropterin dihydrochloride
20 mg/kg for 4 months
Other Name: Biomarin Kuvan

  Show Detailed Description

  Eligibility

Ages Eligible for Study:   18 Years to 40 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  1. Patients with PKU identified on Newborn screening and with phe concentration >12mg/dl on the newborn screen
  2. Baseline phe level at study enrollment > 20 mg/dl (this is the level required for inclusion in the study, regardless of the level used to make diagnosis)
  3. Age range: 18-45 years
  4. Able to comply with neuroimaging without requiring sedation (typically requires IQ over 65). The IQ will be checked with the WASI (Weschler Adult scales of intelligence) before determining eligibility
  5. Able to undergo neuroimaging safely (i.e. without presence of ferromagnetic devices)
  6. Subject has ability to follow instructions in English
  7. Female of childbearing age who is sexually active agrees to urine pregnancy test
  8. Availability to come to Washington, DC to participate in this study

Exclusion Criteria:

  1. Age range <18 or >45 years
  2. Inability to comply with neuroimaging without the use of sedation (low IQ or claustrophobic)
  3. Presence of ferromagnetic device(s) that preclude safe imaging including cardiac pacemaker, neural pacemaker, surgical clips in the brain or blood vessels, surgically implanted metal plates, screws or pins, cochlear implants or metal objects in their body
  4. Pregnant female or breastfeeding at screening or planning to become pregnant at any time during the study.
  5. Baseline phe < 20 mg/dl
  6. Currently on Kuvan
  7. History of substance abuse
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01412437

Locations
United States, District of Columbia
Children's Research Institute Recruiting
Washington, District of Columbia, United States, 20010
Contact: Andrea Gropman, M.D.     202-476-3511     agropman@childrensnational.org    
Contact: L            
Principal Investigator: Andrea L Gropman, M.D.            
Sponsors and Collaborators
Children's Research Institute
Georgetown University
Investigators
Principal Investigator: Andrea L Gropman, M.D. Children's Research Institute
  More Information

Publications:

Responsible Party: Andrea Gropman, Associate Professor, Children's Research Institute
ClinicalTrials.gov Identifier: NCT01412437     History of Changes
Other Study ID Numbers: BMRN 9956
Study First Received: August 1, 2011
Last Updated: March 5, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Children's Research Institute:
PKU
MRI
neurocognition
sapropterin dihydrochloride

Additional relevant MeSH terms:
Phenylketonurias
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
Metabolic Diseases
 Verapamil
Vasodilator Agents
Cardiovascular Agents
Therapeutic Uses
Pharmacologic Actions
Anti-Arrhythmia Agents
Calcium Channel Blockers
Membrane Transport Modulators
Molecular Mechanisms of Pharmacological Action

ClinicalTrials.gov processed this record on May 16, 2013