Actively Recruiting
Phenotype-Genotype Correlation in Egyptian Patients With Congenital Myopathies and Muscular Dystrophies
Led by Ain Shams University · Updated on 2025-08-24
25
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to explore the relationship between physical characteristics and genetic makeup in Egyptian patients diagnosed with Congenital Myopathies (CMs) and Congenital Muscular Dystrophies (CMDs). These two groups represent major congenital muscle diseases that begin at birth or early infancy, characterized by a wide range of symptoms and genetic variations. Understanding this correlation is important because CMDs and CMs often overlap clinically, pathologically, and genetically, making precise genetic diagnosis challenging even with advanced sequencing techniques. Participants will undergo comprehensive diagnostic assessments including clinical examinations, electromyography (EMG), muscle biopsy for tissue evaluation, and genetic testing. These procedures aim to clarify the phenotype-genotype correlations in these muscle diseases. The study observes patients with confirmed genetic diagnoses over a period of two years, focusing on their physical features, response to physiotherapy, and how the same genetic types affect prognosis across different ages. During the study, patients will be closely evaluated through these tests and clinical observations to measure their physical and genetic characteristics. Researchers will assess common facial features, treatment responses, and long-term outcomes related to specific genotypes. The total participation duration is two years, allowing for detailed monitoring and data collection to enhance understanding of these congenital muscle disorders.
CONDITIONS
Brief Title
Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with clinical criteria of Congenital Myopathies (CMs) and Congenital Muscular Dystrophies (CMDs) with different modes of inheritance
- Patients below 18 years of age
- Both males and females are included
- Genetically confirmed cases of CMs and CMDs
You will not qualify if you...
- Patients above 18 years of age
- Diagnosis of spinal muscular atrophy (SMA) or root lesions
- Diagnosis of congenital myasthenic syndromes
- Diagnosis of dystrophinopathies including Duchenne Muscular Dystrophy (DMD) and Limb-Girdle Muscular Dystrophy (LGMD)
- Diagnosis of metabolic myopathies
- Diagnosis of inflammatory muscle diseases
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Initial evaluation period
Participants undergo comprehensive diagnostic assessments including clinical examination, electromyography (EMG), muscle biopsy for histopathological evaluation, and genetic testing to determine phenotype-genotype correlation.
1 to 2 visits depending on assessments needed
Duration - 2 years
Participants are observed over a two-year period to assess phenotype and genotype characteristics, common facial features, response to physiotherapy, and prognosis across different age groups.
Periodic visits during the 2-year follow-up
Trial Site Locations
Total: 1 location
1
Ain Shams University
Cairo, Egypt, 11591
Actively Recruiting
Research Team
N
Nouran M Sabry, MSc
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here