PhenylketonuriaPhase 4NCT06901323
Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria
A Phase 4 study testing L-carnitine in people with Phenylketonuria, run by Mansoura University at 1 site in Egypt.
Trial summary
Effect of L-carnitine supplementation on phenylalanine and brain-derived neurotrophic factor levels in infants and children with phenylketonuria L-carnitine is mainly obtained from foods such as red meat and milk that are limited for PKU patients due to dietary protein restriction. Read more about this study
- Who is it for?
- Ages 1 month to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Phenylketonuria
- What is being tested?
- L-carnitine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 176 participants
- Where
- 1 siteEgypt
- Study dates
- 1 Feb 2025to 1 Aug 2026
- Phase
- Phase 4
- 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 1 month to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- Male and female PKU patients diagnosed and following up at Genetics and Metabolic Outpatient Clinic.
- Age from one month up to 18 years
Who cannot join
- Any patient with other metabolic, genetic or neurological diseases.
- Patients who and/or their guardians refused to sign the consent
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria Two Phases Study 1- Cross Sectional Comparative Study ( PKU Versus Non PKU Infants and Children). 2- Open Label Randomized Controlled Clinical Trial for PKU Patients Only. 1/ Intervention Group: 44 Patients Will Treated With L-carnitine at a Dose of 100 mg/kg/Dose for One Year Beside Their Treatment. 2/ Control PKU Group: 44 Patients Will Not Receive L-carnitine Supplementation Beside Their Treatment 3/ Control Healthy Group Same Age and Sex
Effect of L-carnitine supplementation on phenylalanine and brain-derived neurotrophic factor levels in infants and children with phenylketonuria
L-carnitine is mainly obtained from foods such as red meat and milk that are limited for PKU patients due to dietary protein restriction. So, L-carnitine deficiency has been described in phenylketonuric patients
Read more
The aim of this study is to :
- Compare level of Brain-derived neurotrophic factor in infants and children with phenylketonuria and healthy infants and children.
- Compare level of phenylalanine and Brain-derived neurotrophic factor before and after L-carnitine supplementation in phenylketonuric patients.
- Assess Intelligence quotient test before and after L-carnitine supplementation in phenylketonuric patients
Read the detailed description
Subjects And Methods :
- Type of the study: Two phases: 1- Cross sectional comparative study ( PKU versus non PKU infants and children). 2- Open label Randomized controlled clinical trial for PKU patients only.
- Study locality: This study will be conducted at Genetics and Metabolic Outpatient Clinic of Mansoura University Children's Hospital(MUCH).
- Study duration : assumed to conduct the research over two years.
- Inclusion criteria: 1-Male and female PKU patients diagnosed and following up at Genetics and Metabolic Outpatient Clinic. 2- Age from one month up to 18 years.
- Exclusion criteria:
- Any patient with other metabolic, genetic or neurological diseases.
- Patients who and/or their guardians refused to sign the consent. • Study subjects: 1- Intervention group: Forty four patients will treated with L-carnitine at a dose of 100 mg/kg/dose for one year beside their traditional treatment. 2- Control PKU group: Forty four patients will not receive L-carnitine supplementation beside their traditional treatment. 3- Control healthy group: Eighty eight healthy infant and child with matched age and sex.
- Sample size:
- All PKU pediatric patients attending to the mentioned clinic on regular follow up will be included in the study ,They are at least 88 case.
- They will be randomized into intervention group and PKU control group(44 patients in each group).
- An equal number of completely healthy infants and children not presented with any metabolic or genetic disorders attending to Mansoura University Children Hospital outpatient clinics will be included in the healthy control group.
- Randomaization:
Block randomization with block size of 4 and 22 blocks using opaque sealed envelop.
Investigations:
- Laboratory investigation:
- Serum phenylalanine level.
- Plasma/serum level of Brain-derived neurotrophic factor (BDNF).
- Samples will be drawn twice for the intervention group and PKU control group basal and after one year from L- carnitine supplementation to the intervention group ,and will be drawn once for the healthy control group . b - Psychological assessment:
- Stanford binet intelligence test (version 5) for children more than 3 years old.
- Vineland adaptive behavior scale for infants and children less than 3 years. samples collection: For this study 5 ml whole blood samples will be collected from patients diagnosed with Phenylketonuria at Genetics and Metabolic outpatients clinic of MUCH. The plasma/serum will be separated and utilized to measure levels of phenylalanine and BDNF level by ELISA in clinical pathology lab of faculty of medicine - Mansoura university. Statistical analysis: The collected data will be coded, processed and analyzed using SPSS program (Version 29) . The appropriate statistical tests will be used when needed. P values less than 0.05 (5%) will be considered to be statically significant. Ethical consideration:
- Study protocol will be submitted for approval by IRB.
- Informed written consent will be obtained from each participant sharing in the study.
- Confidentiality and personal privacy will be respected in all levels of the study. Collected data will not be used for any other purpose
- Conditions
- Phenylketonuria
- Being tested
- L-carnitine
- Keywords
- phenylketonuria ,l-carnitine, brain-derived neurotrophic factor
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
L-carnitineDrug
44 patients diagnosed as a case of phenylketonuria will receive l-carnitine at a dose of 100 mg/kg/day for 1 year and then blood sample will examined for level of brain-derived neurotrophic factor levels before and after therapy and another group composed of 44 patients diagnosed as a case of phenylketonuria will not receive l-carnitine and their blood sample will examined for level of brain-derived neurotrophic factor levels treated and untreated patients will compared with healthy children and infants has same age and sex .
| Study group | Role | What they receive |
|---|---|---|
| 88 patients diagnosed as case of phenylketonuria | Experimental | Not described Receives: Drug: L-carnitine |
| 88 control healthy children same age and sex | No intervention | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
improve brain-derived neurotrophic factor levels
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Mar 2025
- Study start1 Feb 2025
- Primary completion1 Mar 2026 (estimated)
- Study completion1 Aug 2026 (estimated)
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.
- More trials run by Mansoura 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 4
- Primary purpose
- Supportive care
- Allocation
- Randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Enrolment
- 176 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mansoura University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Eman Nabil, Mansoura University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06901323
- Sponsor's protocol ID
- MD.24.06.860
- Status last verified
- Feb 2025
- First submitted
- 24 Mar 2025
- Last updated
- 4 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria Two Phases Study 1- Cross Sectional Comparative Study ( PKU Versus Non PKU Infants and Children). 2- Open Label Randomized Controlled Clinical Trial for PKU Patients Only. 1/ Intervention Group: 44 Patients Will Treated With L-carnitine at a Dose of 100 mg/kg/Dose for One Year Beside Their Treatment. 2/ Control PKU Group: 44 Patients Will Not Receive L-carnitine Supplementation Beside Their Treatment 3/ Control Healthy Group Same Age and Sex
- ClinicalTrials.gov ID
- NCT06901323
- Acronym / sponsor ID
- MD.24.06.860
- Conditions
- Phenylketonuria
- Keywords
- phenylketonuria ,l-carnitine, brain-derived neurotrophic factor
- Phase
- Phase 4
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 176 participants (actual)
- Lead sponsor
- Mansoura UniversityUniversity, hospital or other
- Study start
- 1 Feb 2025 (actual)
- Primary completion
- 1 Mar 2026 (estimated)
- Study completion
- 1 Aug 2026 (estimated)
- First posted
- 28 Mar 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.
Effect of L-carnitine supplementation on phenylalanine and brain-derived neurotrophic factor levels in infants and children with phenylketonuria
L-carnitine is mainly obtained from foods such as red meat and milk that are limited for PKU patients due to dietary protein restriction. So, L-carnitine deficiency has been described in phenylketonuric patients
The aim of this study is to :
- Compare level of Brain-derived neurotrophic factor in infants and children with phenylketonuria and healthy infants and children.
- Compare level of phenylalanine and Brain-derived neurotrophic factor before and after L-carnitine supplementation in phenylketonuric patients.
- Assess Intelligence quotient test before and after L-carnitine supplementation in phenylketonuric patients
Detailed description
Subjects And Methods :
- Type of the study: Two phases: 1- Cross sectional comparative study ( PKU versus non PKU infants and children). 2- Open label Randomized controlled clinical trial for PKU patients only.
- Study locality: This study will be conducted at Genetics and Metabolic Outpatient Clinic of Mansoura University Children's Hospital(MUCH).
- Study duration : assumed to conduct the research over two years.
- Inclusion criteria: 1-Male and female PKU patients diagnosed and following up at Genetics and Metabolic Outpatient Clinic. 2- Age from one month up to 18 years.
- Exclusion criteria:
- Any patient with other metabolic, genetic or neurological diseases.
- Patients who and/or their guardians refused to sign the consent. • Study subjects: 1- Intervention group: Forty four patients will treated with L-carnitine at a dose of 100 mg/kg/dose for one year beside their traditional treatment. 2- Control PKU group: Forty four patients will not receive L-carnitine supplementation beside their traditional treatment. 3- Control healthy group: Eighty eight healthy infant and child with matched age and sex.
- Sample size:
- All PKU pediatric patients attending to the mentioned clinic on regular follow up will be included in the study ,They are at least 88 case.
- They will be randomized into intervention group and PKU control group(44 patients in each group).
- An equal number of completely healthy infants and children not presented with any metabolic or genetic disorders attending to Mansoura University Children Hospital outpatient clinics will be included in the healthy control group.
- Randomaization:
Block randomization with block size of 4 and 22 blocks using opaque sealed envelop.
Investigations:
- Laboratory investigation:
- Serum phenylalanine level.
- Plasma/serum level of Brain-derived neurotrophic factor (BDNF).
- Samples will be drawn twice for the intervention group and PKU control group basal and after one year from L- carnitine supplementation to the intervention group ,and will be drawn once for the healthy control group . b - Psychological assessment:
- Stanford binet intelligence test (version 5) for children more than 3 years old.
- Vineland adaptive behavior scale for infants and children less than 3 years. samples collection: For this study 5 ml whole blood samples will be collected from patients diagnosed with Phenylketonuria at Genetics and Metabolic outpatients clinic of MUCH. The plasma/serum will be separated and utilized to measure levels of phenylalanine and BDNF level by ELISA in clinical pathology lab of faculty of medicine - Mansoura university. Statistical analysis: The collected data will be coded, processed and analyzed using SPSS program (Version 29) . The appropriate statistical tests will be used when needed. P values less than 0.05 (5%) will be considered to be statically significant. Ethical consideration:
- Study protocol will be submitted for approval by IRB.
- Informed written consent will be obtained from each participant sharing in the study.
- Confidentiality and personal privacy will be respected in all levels of the study. Collected data will not be used for any other purpose
Study design
- Primary purpose
- Supportive care
- Allocation
- Randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 88 patients diagnosed as case of phenylketonuria | Experimental | Drug: L-carnitine |
| 88 control healthy children same age and sex | No intervention | – |
Who may qualify
- Ages
- 1 month to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (2 listed)
- Male and female PKU patients diagnosed and following up at Genetics and Metabolic Outpatient Clinic.
- Age from one month up to 18 years
Key exclusion criteria (2 listed)
- Any patient with other metabolic, genetic or neurological diseases.
- Patients who and/or their guardians refused to sign the consent
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 |
|---|---|---|
| L-carnitine44 patients diagnosed as a case of phenylketonuria will receive l-carnitine at a dose of 100 mg/kg/day for 1 year and then blood sample will examined for level of brain-derived neurotrophic factor levels before and after therapy and another group composed of 44 patients diagnosed as a case of phenylketonuria will not receive l-carnitine and their blood sample will examined for level of brain-derived neurotrophic factor levels treated and untreated patients will compared with healthy children and infants has same age and sex . | Drug | 88 patients diagnosed as case of phenylketonuria |
Primary outcome
improve brain-derived neurotrophic factor levels
Time frame: 1 year
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 4 Apr 2025.
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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 4 study testing L-carnitine in people with Phenylketonuria, run by Mansoura 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 2 inclusion and 2 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 4 Apr 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 4 studies take place after a treatment is approved, to learn more about its long-term benefits and risks in everyday use.
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?
improve brain-derived neurotrophic factor levels (time frame: 1 year). 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 4 Apr 2025.