Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies

NCT07138963 | Recruiting

• 1 other identifier: FMASU MD103/2024
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

The aim of this study is to correlate the phenotype and genotype among a sample of Egyptian patients with Congenital myopathies and Congenital muscular dystrophies.

Conditions

Phenotype; Genotype; Correction; Sample; Egyptian Patients; Congenital Myopathies; Congenital Muscular Dystrophies

Outcome Measures

Primary Outcomes (1)

• Phenotype and genotype of congenital myopathies (CM) and congenital muscular dystrophies (CMD) patients

  Correlation of the most common clinical presentations and complications among Egyptian patients with congenital myopathies (CM) and congenital muscular dystrophies (CMD) of different genotypes.

  Two years

Secondary Outcomes (3)

• Common facial features

  Two years

• Response to physiotherapy

  Two years

• Prognosis of same genotype across different age groups

  Two years

Study Arms (1)

Study Population

Patients with congenital myopathies or congenital muscular dystrophies evaluated for phenotype-genotype correlation.

Diagnostic Test: Genetic Testing and Muscle Biopsy

Interventions

Genetic Testing and Muscle Biopsy DIAGNOSTIC_TEST

Comprehensive diagnostic assessment including clinical examination, electromyography (EMG), muscle biopsy for histopathological evaluation, and genetic testing to determine phenotype-genotype correlation in congenital myopathies and muscular dystrophies.

Study Population

Eligibility Criteria

• Age: 1 Year - 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Descriptive Cross-sectional study was caried out on patients with suspected or confirmed congenital myopathies or congenital muscular dystrophies presenting to Ain Shams University Hospitals, recruited over a specific study period.

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Ain Shams University: lead

Study Sites (1)

Ain Shams University

Cairo, 11591, Egypt

RECRUITING

MeSH Terms

Conditions

Myotonia Congenita

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Myotonic Disorders; Muscular Diseases; Musculoskeletal Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Central Study Contacts

Nouran M Sabry, MSc

CONTACT

00201092289982; nouran.abdelaziz@med.asu.edu.eg

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Lecturer of Neurology and Psychiatry Department, Faculty of Medicine, Ain Shams University, Egypt.

Study Record Dates

• First Submitted: July 31, 2025
• First Posted: August 24, 2025
• Study Start: June 30, 2024
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): June 30, 2026
• Last Updated: August 24, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: After the end of study for one year.
• Access Criteria: The data will be available upon a reasonable request from the corresponding author

Locations

EG (1)