PhenotypeNCT07138963
Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies
An observational study of Phenotype and Genotype, run by Ain Shams University at 1 site in Egypt.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Phenotype, Genotype, Correction
- What is being tested?
- Genetic Testing and Muscle Biopsy
- How many people
- 25 participants
- Where
- 1 siteEgypt
- Study dates
- 30 Jun 2024to 30 Jun 2026
- Phase
- Observational
- 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 year to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
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.
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Egypt1 site, 1 recruiting
- Recruiting
Ain Shams University
Cairo, 11591
Nouran M Sabry, MSc, 00201092289982, nouran.abdelaziz@med.asu.edu.eg
Nagia A Fahmy, MD
About this study
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.
Read the detailed description
Congenital Muscular dystrophies (CMDs) and Congenital Myopathies (CMs) constitute the two most important groups of congenital muscle diseases with early onset whether at birth or early infancy.
CMDs and CMs as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the era of next generation sequencing. However, it has become clear that there is overlap between CMDs and CMs on the clinical, pathological and genetic level.
- Conditions
- Phenotype, Genotype, Correction, Sample, Egyptian Patients, Congenital Myopathies
- Being tested
- Genetic Testing and Muscle Biopsy
- Medical subject headings
- Myotonia Congenita
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic Testing and Muscle BiopsyDiagnostic 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 group | Role | What they receive |
|---|---|---|
| Study Population | Patients with congenital myopathies or congenital muscular dystrophies evaluated for phenotype-genotype correlation. Receives: Diagnostic Test: Genetic Testing and Muscle Biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Two years
Secondary outcomes (3)
Common facial features
Identification and comparison of typical dysmorphic facial features associated with different genetic subtypes of congenital myopathies (CM) and congenital muscular dystrophies (CMD).
Measured: Two years
Response to physiotherapy
Response to physiotherapy will be recorded.
Measured: Two years
Prognosis of same genotype across different age groups
The prognosis of the same genotype across different age groups will be recorded.
Measured: Two years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Aug 2025
- Study start30 Jun 2024
- Primary completion30 Jun 2026 (estimated)
- Study completion30 Jun 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenotypeStudies of the same condition, open and under way.
- More trials run by Ain Shams 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
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ain Shams University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Nouran Mohamed Sabry Abdel Aziz, Ain Shams University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07138963
- Sponsor's protocol ID
- FMASU MD103/2024
- Status last verified
- Aug 2025
- First submitted
- 31 Jul 2025
- Last updated
- 24 Aug 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The data will be available upon a reasonable request from the corresponding author after the end of study for one year.
Study at a glance
From the registry record, last updated by the sponsor on 24 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies
- ClinicalTrials.gov ID
- NCT07138963
- Acronym / sponsor ID
- FMASU MD103/2024
- Conditions
- Phenotype, Genotype, Correction, Sample, Egyptian Patients, Congenital Myopathies
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Ain Shams UniversityUniversity, hospital or other
- Study start
- 30 Jun 2024 (actual)
- Primary completion
- 30 Jun 2026 (estimated)
- Study completion
- 30 Jun 2026 (estimated)
- First posted
- 24 Aug 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.
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.
Detailed description
Congenital Muscular dystrophies (CMDs) and Congenital Myopathies (CMs) constitute the two most important groups of congenital muscle diseases with early onset whether at birth or early infancy.
CMDs and CMs as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the era of next generation sequencing. However, it has become clear that there is overlap between CMDs and CMs on the clinical, pathological and genetic level.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Study Population | – | Diagnostic Test: Genetic Testing and Muscle BiopsyPatients with congenital myopathies or congenital muscular dystrophies evaluated for phenotype-genotype correlation. |
Who may qualify
- Ages
- 1 year to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (6 listed)
- 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
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 |
|---|---|---|
| Genetic Testing and Muscle BiopsyComprehensive 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. | Diagnostic test | Study Population |
Primary outcome
Phenotype and genotype of congenital myopathies (CM) and congenital muscular dystrophies (CMD) patients
Time frame: Two years
Correlation of the most common clinical presentations and complications among Egyptian patients with congenital myopathies (CM) and congenital muscular dystrophies (CMD) of different genotypes.
3 secondary outcomes
Common facial features
Time frame: Two years
Response to physiotherapy
Time frame: Two years
Prognosis of same genotype across different age groups
Time frame: Two years
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 24 Aug 2025.
- Individual participant dataSharing planned: Yes. The data will be available upon a reasonable request from the corresponding author after the end of study for one year.
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenotype and Genotype, run by Ain Shams 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 4 inclusion and 6 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: looking for participants now, as of the sponsor's last update on 24 Aug 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.
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?
Contact Nouran M Sabry, MSc (00201092289982, nouran.abdelaziz@med.asu.edu.eg), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Phenotype and genotype of congenital myopathies (CM) and congenital muscular dystrophies (CMD) patients (time frame: Two years). 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 24 Aug 2025.