A Pilot Study on Diurnal Variation

NCT01806051 | Terminated Results

• 1 other identifier: CCI-12-00178
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

Brief Summary

This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with phenylketonuria (PKU) and in the non-PKU population.

Conditions

Phenylketonuria (PKU)

Outcome Measures

Primary Outcomes (1)

• Changes in Plasma Phe and Tyrosine Levels

  To evaluate the patterns of change in plasma Phe and tyrosine levels between the Baseline visit and 4 week visit for each arm.

  Baseline and 4 weeks

Study Arms (2)

PKU Participants (Arm 1)

EXPERIMENTAL

* Subjects will be administered Kuvan once daily. * They will undergo several blood draws, including a 24-Hour Blood Assessment (at Study Visit #2 before the commencement of Kuvan), plasma Phe/Tyr draws (at Study Visits #3, 4, and 5), and another 24-Hour Blood Assessment (at Study Visit #6).

Drug: Kuvan

Control Group (Arm 2)

NO INTERVENTION

* Subjects allocated into this group will be healthy, non-PKU individuals that may be a relative (ex: sibling) of a PKU participant, but they don't have to be a blood relation. * These subjects will undergo a 24-Hour Blood Assessment (at Study Visit #2).

Interventions

Kuvan DRUG

Only PKU participants (Arm 1) will be administered Kuvan once daily either at a dose of 20 mg/kg/day (if the PKU participant is not currently taking Kuvan) or at the subject's regular dose (if the PKU participant is currently taking Kuvan). They will remain on Kuvan for 4 weeks.

PKU Participants (Arm 1)

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• PKU PARTICIPANTS (ARM 1):
• Subject has a confirmed diagnosis of PKU with hyperphenylalaninemia documented by a fasting Phenylalanine level of at least 360 umol/L (6 mg/dL)
• Patient is at least 4 years old (there is no upper age limit for this study)
• Willing and able to provide written authorization or, if under the age of 18 years, provide written assent (if required) and written patient authorization by a parent or legal guardian
• Willing to undergo study related procedures including commencing Kuvan treatment for patient not currently on treatment; temporary discontinuation of Kuvan for patient on treatment; and completing the 24-Hour Blood Assessment
• Authorized to provide personal health information
• Subjects should not be pregnant and willing to use appropriate birth control during the study
• CONTROL GROUP (ARM 2):
• Healthy, non-PKU individuals. They will be age-sex matched to the PKU group. They may be a relative (ex: sibling) of a PKU participant, but they don't have to be a blood relation.
• Individual is at least 4 years old (there is no upper age limit)
• Willing and able to provide written consent or, if under the age of 18 years, provide written assent and written participant authorization by a parent or legal guardian
• Authorized to provide personal health information

You may not qualify if:

• Age \< 4 years
• Concomitant medical problems or medications which at the discretion of the principal investigator would put participant at health risk or prevent them from completing study.
• If female, unwillingness to use birth control during the period of the study drug administration (this doesn't apply to Arm 2)

Sponsors & Collaborators

• Dr. Linda Randolph: lead
• BioMarin Pharmaceutical: collaborator

Study Sites (1)

Children's Hospital Los Angeles

Los Angeles, California, 90027, United States

Location

MeSH Terms

Conditions

Phenylketonurias

Interventions

sapropterin

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

Results Point of Contact

• Title: Linda Randolph, M.D.
• Organization: Children's Hospital Los Angeles

lrandolph@chla.usc.edu

323-361-2178

Study Officials

• Linda M. Randolph, MD

  Children's Hospital Los Angeles

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Head, Division of Medical Genetics

Study Record Dates

• First Submitted: March 4, 2013
• First Posted: March 7, 2013
• Study Start: March 1, 2013
• Primary Completion: May 1, 2014
• Study Completion: May 1, 2014
• Last Updated: April 20, 2016
• Results First Posted: April 20, 2016

Record last verified: 2016-03

Locations

US (1)