PhenylketonuriaPhase 2NCT00260000
Study of BH4, a New and Simple Treatment of Mild PKU
A Phase 2 study testing 5,6,7,8-tetrahydrobiopterin in people with Phenylketonuria, run by The Kennedy Institute-National Eye Clinic at 1 site in Denmark.
Trial 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. Read more about this study
- Who is it for?
- Ages 8 years and older
- Conditions the study is for
- Phenylketonuria
- What is being tested?
- 5,6,7,8-tetrahydrobiopterin
- How many people
- 15 participants
- Where
- 1 siteDenmark
- Study dates
- Apr 2005to Dec 2005
- Phase
- Phase 2
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Diagnosed mild PKU with 2 known mutations in the PAH gene, hereof at least one Y414C From the age of eight Informed consent -
Who cannot join
- Less than 8 years of age Pregnancy or treated with the intensive diet of pregnancy
- -
Trial locations and contacts
1 site in 1 country.
Denmark1 site
The Kennedy Institute-National Eye Clinic
Glostrup Municipality, Copenhagen, DK-2600
About this study
Official title: Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation
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.
Read the 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.
- Conditions
- Phenylketonuria
- Being tested
- 5,6,7,8-tetrahydrobiopterin
- Keywords
- mild PKU, Y414C, 5,6,7,8-tetrahydrobiopterin, BH4, treatment without protein restriction
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
5,6,7,8-tetrahydrobiopterinDrug
What is being measured
The primary outcome is the main question the study is designed to answer.
Fasting S-phenylalanine at day 0, 1, 2, 5, 7 in each week of treatment with BH4.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Dec 2005 (estimated)
- Study startApr 2005
- Study completionDec 2005
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenylketonuriaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 15 participants
Sponsor and investigators
- Lead sponsor
- The Kennedy Institute-National Eye Clinic
- Sponsor type
- Other government
- Collaborators
- Sygekassernes Helsefond
- Investigators
- Jytte B Nielsen, DMSc, Principal investigator, The Kennedy Institute-National Eye Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00260000
- Sponsor's protocol ID
- 2612-2706-BH4-1
- Status last verified
- Apr 2006
- First submitted
- 30 Nov 2005
- Last updated
- 13 Apr 2006
- Results posted
- No