Linking genetic changes to symptoms in Egyptian children with congenital muscle disorders
Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies
This project will test whether specific genetic changes explain symptoms in Egyptian children under 18 who have congenital myopathies or congenital muscular dystrophies.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 25 (estimated) |
| Ages | 1 Year to 18 Years |
| Sex | All |
| Sponsor | Ain Shams University Academic / other |
| Locations | 1 site (Cairo) |
| Trial ID | NCT07138963 on ClinicalTrials.gov |
What this trial studies
This observational project enrolls Egyptian patients under age 18 with clinical and genetic features of congenital myopathies or congenital muscular dystrophies. Participants undergo genetic testing and, when indicated, muscle biopsy to collect genetic and pathological data. Investigators will correlate clinical signs, pathology, and genetic findings to clarify genotype–phenotype relationships. The goal is to improve diagnostic precision in a population with limited existing genotype–phenotype data.
Who should consider this trial
Good fit: Ideal candidates are Egyptian patients younger than 18 years with clinical criteria for congenital myopathies or congenital muscular dystrophies and genetically confirmed diagnoses.
Not a fit: Patients older than 18 or those with excluded conditions (spinal muscular atrophy, congenital myasthenic syndromes, dystrophinopathies such as DMD or LGMD, metabolic or inflammatory myopathies, or root lesions) are unlikely to benefit from this study.
Why it matters
Potential benefit: If successful, the work could improve genetic diagnosis, counseling, and tailored care for affected Egyptian children and their families.
How similar studies have performed: Previous international genotype–phenotype studies have clarified some gene–symptom links, but such correlations remain incompletely characterized in Egyptian patients.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients with clinical criteria of Congenital Myopathies (CMs) and Congenital Muscular dystrophies (CMDs) with different modes of inheritance. * Age: patients below age of 18 years. * Gender: Both males and females are included * Genetically confirmed CMs and CMDs. Exclusion Criteria: * Patients above 18 years. * Spinal muscular atrophy (SMA),and root lesions. * Congenital myasthenic syndromes * Dystrophinopathies,Duchenne Muscular Dystrophy (DMD), Limb-Girdle Muscular Dystrophy (LGMD) * .Metabolic myopathies * .Inflammatory muscle diseases
Where this trial is running
Cairo
- Ain Shams University — Cairo, Egypt (Recruiting)
Study contacts
- Study coordinator: Nouran M Sabry, MSc
- Email: nouran.abdelaziz@med.asu.edu.eg
- Phone: 00201092289982
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.