Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria

NCT06901323 | Active Not Recruiting Phase 4

• 1 other identifier: MD.24.06.860
• Study Type: interventional
• Target: 176
• Locations: 1 country
• Sites: 1

Brief 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. So, L-carnitine deficiency has been described in phenylketonuric patients The aim of this study is to :

1. 1.Compare level of Brain-derived neurotrophic factor in infants and children with phenylketonuria and healthy infants and children.
2. 2.Compare level of phenylalanine and Brain-derived neurotrophic factor before and after L-carnitine supplementation in phenylketonuric patients.
3. 3.Assess Intelligence quotient test before and after L-carnitine supplementation in phenylketonuric patients

Conditions

Phenylketonuria

Keywords

phenylketonuria ,l-carnitine, brain-derived neurotrophic factor

Outcome Measures

Primary Outcomes (1)

• improve brain-derived neurotrophic factor levels

  1 year

Study Arms (2)

88 patients diagnosed as case of phenylketonuria

EXPERIMENTAL

Drug: L-carnitine

88 control healthy children same age and sex

NO INTERVENTION

Interventions

L-carnitine DRUG

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 .

88 patients diagnosed as case of phenylketonuria

Eligibility Criteria

• Age: 1 Month - 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Male and female PKU patients diagnosed and following up at Genetics and Metabolic Outpatient Clinic.
• Age from one month up to 18 years

You may not qualify if:

• Any patient with other metabolic, genetic or neurological diseases.
• Patients who and/or their guardians refused to sign the consent

Sponsors & Collaborators

• Mansoura University: lead

Study Sites (1)

Mansoura University

Al Mansurah, Egypt

Location

MeSH Terms

Conditions

Phenylketonurias

Interventions

Carnitine

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

Intervention Hierarchy (Ancestors)

Trimethyl Ammonium Compounds; Quaternary Ammonium Compounds; Amines; Organic Chemicals

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: SUPPORTIVE CARE
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: March 24, 2025
• First Posted: March 28, 2025
• Study Start: February 1, 2025
• Primary Completion: March 1, 2026
• Study Completion (Estimated): August 1, 2026
• Last Updated: April 4, 2025

Record last verified: 2025-02

Locations

EG (1)