Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

August 29, 2021 updated by: Nehal Samy Abdo, Sohag University
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.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

50

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Egypt
      • Sohag, Egypt
        • Sohag University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years to 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Screening
  • Allocation: Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
change in dystrophine gene mutation
Time Frame: within six months
MLPA test
within six months
change in MRI findings in DMX patient from normal
Time Frame: within six months
by MRI brain
within six months
change in cardiac function in DMD patient
Time Frame: within six months
by Echocardiography to detect EF, FS
within six months
change in thyroid function in DMD patient
Time Frame: within six months
by thyroid function test
within six months
change in cognitive function in DMD patients
Time Frame: within six months
by Stanford IQ test
within six months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sohag University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

October 1, 2021

Primary Completion (Anticipated)

February 1, 2022

Study Completion (Anticipated)

August 1, 2023

Study Registration Dates

First Submitted

July 14, 2021

First Submitted That Met QC Criteria

August 29, 2021

First Posted (Actual)

August 31, 2021

Study Record Updates

Last Update Posted (Actual)

August 31, 2021

Last Update Submitted That Met QC Criteria

August 29, 2021

Last Verified

August 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Soh-Med-21-07-21

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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