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Study of BH4, a New and Simple Treatment of Mild PKU

Primary Purpose

Phenylketonuria

Status

Completed

Phase

Phase 2

Locations

Denmark

Study Type

Interventional

Intervention

5,6,7,8-tetrahydrobiopterin

About this trial

This is an interventional treatment trial for Phenylketonuria focused on measuring mild PKU, Y414C, 5,6,7,8-tetrahydrobiopterin, BH4, treatment without protein restriction

Eligibility Criteria

8 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria: Diagnosed mild PKU with 2 known mutations in the PAH gene, hereof at least one Y414C From the age of eight Informed consent - Exclusion Criteria: Less than 8 years of age Pregnancy or treated with the intensive diet of pregnancy -

Sites / Locations

The Kennedy Institute-National Eye Clinic

Outcomes

Primary Outcome Measures

Fasting S-phenylalanine at day 0, 1, 2, 5, 7 in each week of treatment with BH4.

Secondary Outcome Measures

Full Information

NCT ID

NCT00260000

First Posted

November 30, 2005

Last Updated

April 12, 2006

Sponsor

The Kennedy Institute-National Eye Clinic

Collaborators

Sygekassernes Helsefond

1. Study Identification

Unique Protocol Identification Number

NCT00260000

Brief Title

Study of BH4, a New and Simple Treatment of Mild PKU

Official Title

Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation

Study Type

Interventional

2. Study Status

Record Verification Date

April 2006

Overall Recruitment Status

Completed

Study Start Date

April 2005 (undefined)

Primary Completion Date

undefined (undefined)

Study Completion Date

December 2005 (undefined)

3. Sponsor/Collaborators

Name of the Sponsor

The Kennedy Institute-National Eye Clinic

Collaborators

Sygekassernes Helsefond

4. Oversight

5. Study Description

Brief Summary

The main purpose is to test whether treatment with BH4-tablets can replace the protein restrictive diet in patients with mild PKU caused by a certain frequent mutation.

Detailed Description

PKU, phenylketonuria, is a rare, inherited metabolic disorder that results in mental retardation if not a very strict low-protein diet is started within the first weeks of life. The conversion of phenylalanine, phe, to tyrosine is defect, phe accumulates, leading to brain damage. There are different degrees of severity, reflecting the spectrum of mutant genes. BH4, tetrahydrobiopterin, is a co-enzym for the conversion of phe to tyrosine. It is known that BH4 can lower phe in some patients with milder forms of PKU. The main purpose is to test whether treatment with oral BH4 can replace the protein restrictive diet in patients with mild PKU caused by the frequent mutation Y414C in the phenylalanine hydroxylase gene.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Phenylketonuria

Keywords

mild PKU, Y414C, 5,6,7,8-tetrahydrobiopterin, BH4, treatment without protein restriction

7. Study Design

Primary Purpose

Treatment

Study Phase

Phase 2

Interventional Study Model

Single Group Assignment

Masking

None (Open Label)

Allocation

Non-Randomized

Enrollment

15 (false)

8. Arms, Groups, and Interventions

Intervention Type

Drug

Intervention Name(s)

5,6,7,8-tetrahydrobiopterin

Primary Outcome Measure Information:

Title

Fasting S-phenylalanine at day 0, 1, 2, 5, 7 in each week of treatment with BH4.

10. Eligibility

Sex

All

Minimum Age & Unit of Time

8 Years

Accepts Healthy Volunteers

Eligibility Criteria

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Jytte B Nielsen, DMSc

Organizational Affiliation

The Kennedy Institute-National Eye Clinic

Official's Role

Principal Investigator

Facility Information:

Facility Name

The Kennedy Institute-National Eye Clinic

City

Glostrup

State/Province

Copenhagen

ZIP/Postal Code

DK-2600

Country

Denmark

12. IPD Sharing Statement

Learn more about this trial

Study of BH4, a New and Simple Treatment of Mild PKU

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