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Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

Sponsor
Sohag University (Other)
Overall Status
Not yet recruiting
CT.gov ID
NCT05029232
Collaborator
(none)
50
Enrollment
1
Location
2
Arms
22
Anticipated Duration (Months)
2.3
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Muscular dystrophies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing .Duchenne Muscular Dystrophy (DMD) is a neuromuscular muscular X-linked recessive disorders that belong to a group of disorders known as dystrophinopathies. DMD characterized by a progressive degeneration of skeletal muscles, with symptoms that manifest early, at around 3 years, causing loss of ambulation within the 13 years of life, followed by cardiac complication (e.g., dilated cardiomyopathy and arrhythmia) and respiratory disorders, including chronic respiratory failure. The unique medical treatment available is steroid therapy, which appears to prolong walking capacity by at least two years. Thus, besides medical treatment, the physical therapy in multidisciplinary care is imperative for alleviating muscle atrophy, skeletal deformities, and motor function deterioration.

Condition or Disease Intervention/Treatment Phase
  • Diagnostic Test: MLPA for duchenne
 N/A

Study Design

Study Type:
Interventional
Anticipated Enrollment :
50 participants
Allocation:
Randomized
Intervention Model:
Parallel Assignment
Masking:
None (Open Label)
Primary Purpose:
Screening
Official Title:
Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital
Anticipated Study Start Date :
Oct 1, 2021
Anticipated Primary Completion Date :
Feb 1, 2022
Anticipated Study Completion Date :
Aug 1, 2023

Arms and Interventions

Arm Intervention/Treatment
Active Comparator: ambulant patient with DMD

patient that walk alone or with minor assist

Diagnostic Test: MLPA for duchenne
MLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up
Other Names:
  • muscle enzymes
  • thyroid function
  • EMG , nerve conduction for limbs
  • echocardiography , MRI brain , IQ test

    		•
    Active Comparator: non ambulant patient with DMD

    patient need wheel chair

    Diagnostic Test: MLPA for duchenne
    MLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up
    Other Names:
  • muscle enzymes
  • thyroid function
  • EMG , nerve conduction for limbs
  • echocardiography , MRI brain , IQ test

    		•

    Outcome Measures

    Primary Outcome Measures

    1. change in dystrophine gene mutation [within six months]

      MLPA test

    2. change in MRI findings in DMX patient from normal [within six months]

      by MRI brain

    3. change in cardiac function in DMD patient [within six months]

      by Echocardiography to detect EF, FS

    4. change in thyroid function in DMD patient [within six months]

      by thyroid function test

    5. change in cognitive function in DMD patients [within six months]

      by Stanford IQ test

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    3 Years to 18 Years
    Sexes Eligible for Study:
    Male
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:

    1. age of onset between 3- and 18-year-old

    2. typical clinical manifestation of Duchenne muscular dystrophy

    3. clinical manifestation confirmed by specific biochemical analysis or by genetic testing who presented to pediatric department and neurology outpatient clinic during the period of study.

    Exclusion Criteria:

    1. children with another congenital muscular dystrophy

    2. children with other types of myopathies

    3. presence of CNS disorders such as brain insult & spinal muscular atrophy

    4. female gender

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Sohag University Hospital Sohag Egypt

    Sponsors and Collaborators

    • Sohag University

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    Responsible Party:
    Nehal Samy Abdo, Assistant lecturer of pediatric. sohag university hospitals, Sohag University
    ClinicalTrials.gov Identifier:
    NCT05029232
    Other Study ID Numbers:
    • Soh-Med-21-07-21
    First Posted:
    Aug 31, 2021
    Last Update Posted:
    Aug 31, 2021
    Last Verified:
    Aug 1, 2021
    Individual Participant Data (IPD) Sharing Statement:
    Yes
    Plan to Share IPD:
    Yes
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Muscular Dystrophies
    Muscular Dystrophy, Duchenne

    Study Results

    No Results Posted as of Aug 31, 2021