Response to Phenylketonuria to Tetrahydrobiopterin (BH4)

NCT00244218 | Terminated Phase 1

• 2 other identifiers: 01-269FD-R-002600-01
• Study Type: interventional
• Target: 57
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to determine whether tetrahydrobiopterin (BH4)is effective in treating patients with PKU.

Conditions

Phenylketonuria

Keywords

phenylketonuria; hyperphenylalaninemia

Outcome Measures

Primary Outcomes (1)

• Blood Phe level decrease by 30%

  9 months

Study Arms (2)

Treatment Arm

EXPERIMENTAL

Drug: tetrahydrobiopterin (BH4) Either placebo or BH4, 10mg/kg/day will be given for three months. Then the patient will be given three additional months of open label BH4 at the same rate.

Drug: tetrahydrobiopterin (BH4)

Control Arm

PLACEBO COMPARATOR

Drug: tetrahydrobiopterin (BH4) Either placebo or BH4, 10mg/kg/day will be given for three months. Then the patient will be given three additional months of open label BH4 at the same rate.

Drug: tetrahydrobiopterin (BH4)

Interventions

tetrahydrobiopterin (BH4) DRUG

Either placebo or tetrahydrobiopterin (BH4) , 10mg/kg/day will be given for three months. Then the patient will be given three additional months of open label BH4 at the same rate.

Also known as: BH4

Control Arm; Treatment Arm

Eligibility Criteria

• Age: 10 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Subject and/or parent or guardian must be capable of understanding and providing written informed consent
• Subjects must have Phenylketonuria (PKU)or hyperphenylalaninemia (HPA), defined as baseline blood Phe levels of \>600 umol/L
• Subjects must be at least 10 years of age, and may be of either gender and any ethnic group
• Female subjects of childbearing potential must agree to use adequate birth control or refrain from sexual activity throughout study participation

You may not qualify if:

• Female subjects who are pregnant or breastfeeding
• Subjects who have concurrent diseases or conditions that require medication or treatment
• Subjects who require concomitant treatment with any drug known to inhibit folate synthesis
• Subjects who have been treated with any investigational drug within 30 days

Sponsors & Collaborators

• The University of Texas Medical Branch, Galveston: lead

Study Sites (1)

University of Texas Medical Branch

Galveston, Texas, 77555, 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

Study Officials

• Reuben Matalon, MD, PhD

  University of Texas

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: RANDOMIZED
• Masking: TRIPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 25, 2005
• First Posted: October 26, 2005
• Study Start: April 1, 2005
• Primary Completion: March 1, 2009
• Study Completion: January 1, 2015
• Last Updated: September 21, 2021

Record last verified: 2015-06

Locations

US (1)