Phenylketonuria (PKU)Phase 1NCT07255599
Evaluation of BH4 Responsiveness in Our PKU Patients
A Phase 1 study testing Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin) in people with Phenylketonuria (PKU), run by Sohag University at 1 site in Egypt.
Trial summary
This study aims to evaluate BH4 responsiveness in our PKU patients and to correlate BH4 responsiveness with their genotype Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Phenylketonuria (PKU)
- What is being tested?
- Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteEgypt
- Study dates
- 1 Sep 2025to 1 Sep 2026
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was < 400 μmol/l
Who cannot join
- if phenylalanine was less than 400 μmol/l
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Tetrahydrobiopterin Responsiveness in Phenylketonuria Prediction With the 48-hour Loading Test and Genotype
This study aims to evaluate BH4 responsiveness in our PKU patients and to correlate BH4 responsiveness with their genotype
- Conditions
- Phenylketonuria (PKU)
- Being tested
- Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)
- Keywords
- PKU
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)Drug
Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was < 400 μmol/l. BH4 20 mg/kg was administered at T = 0 and T = 24. Blood samples were taken at T = 0, 8, 16, 24 and 48 h. Responsiveness was defined as ≥ 30% reduction in phenylalanine concentration at ≥ 1 time point.
| Study group | Role | What they receive |
|---|---|---|
| GROUP 1 | Active comparator | Sapropterin Dihydrochloride Receives: Drug: Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin) |
What is being measured
The primary outcome is the main question the study is designed to answer.
• Serum phenylealanine level in patients after given tetrahydrobiopterin
Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was < 400 μmol/l. BH4 20 mg/kg was administered for 48 hours . Blood samples were taken at Hour = 0, 8, 16, 24 and 48 . Responsiveness was defined as ≥ 30% reduction in phenylalanine concentration at ≥ 1 time point.
Measured: Blood samples were taken at Hour = 0, 8, 16, 24 and 48
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Dec 2025
- Study start1 Sep 2025
- Primary completion1 Jan 2026 (estimated)
- Study completion1 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Phenylketonuria (PKU)Studies of the same condition, open and under way.
- More trials run by Sohag UniversityThe sponsor's other registered studies.
- 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 1
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sohag University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Mahmoud Gadelkarim Mohamed, Sohag University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07255599
- Sponsor's protocol ID
- Soh-Med--25-9-6MS
- Status last verified
- Nov 2025
- First submitted
- 25 Sep 2025
- Last updated
- 1 Dec 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 1 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Tetrahydrobiopterin Responsiveness in Phenylketonuria Prediction With the 48-hour Loading Test and Genotype
- ClinicalTrials.gov ID
- NCT07255599
- Acronym / sponsor ID
- Soh-Med--25-9-6MS
- Conditions
- Phenylketonuria (PKU)
- Keywords
- PKU
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Sohag UniversityUniversity, hospital or other
- Study start
- 1 Sep 2025 (actual)
- Primary completion
- 1 Jan 2026 (estimated)
- Study completion
- 1 Sep 2026 (estimated)
- First posted
- 1 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study aims to evaluate BH4 responsiveness in our PKU patients and to correlate BH4 responsiveness with their genotype
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| GROUP 1 | Active comparator | Drug: Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)Sapropterin Dihydrochloride |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was < 400 μmol/l
Key exclusion criteria (1 listed)
- if phenylalanine was less than 400 μmol/l
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was < 400 μmol/l. BH4 20 mg/kg was administered at T = 0 and T = 24. Blood samples were taken at T = 0, 8, 16, 24 and 48 h. Responsiveness was defined as ≥ 30% reduction in phenylalanine concentration at ≥ 1 time point. | Drug | GROUP 1 |
Primary outcome
• Serum phenylealanine level in patients after given tetrahydrobiopterin
Time frame: Blood samples were taken at Hour = 0, 8, 16, 24 and 48
Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was < 400 μmol/l. BH4 20 mg/kg was administered for 48 hours . Blood samples were taken at Hour = 0, 8, 16, 24 and 48 . Responsiveness was defined as ≥ 30% reduction in phenylalanine concentration at ≥ 1 time point.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Dec 2025.
- Individual participant dataSharing planned: Undecided
Related trials for Phenylketonuria (PKU)
RecruitingPhase 2
A Study of MZE782 in Adults With PKU
Phenylketonuria (PKU)
Not yet recruiting
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Not yet recruiting
PKU Microtablets Case Studies
Phenylketonuria (PKU)
Recruiting
The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria
Phenylketonuria (PKU)
Not yet recruitingEarly Phase 1
To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria
Phenylketonuria (PKU)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin) in people with Phenylketonuria (PKU), run by Sohag University at 1 site in Egypt.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 1 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
• Serum phenylealanine level in patients after given tetrahydrobiopterin (time frame: Blood samples were taken at Hour = 0, 8, 16, 24 and 48). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Dec 2025; AzTrials last refreshed its copy on 7 Nov 2026.