Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital

NCT05029232 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 50

Last updated 2021-08-31

No results posted yet for this study

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.

Conditions

Interventions

DIAGNOSTIC_TEST

MLPA for duchenne

MLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up

Sponsors & Collaborators

  • Sohag University

    lead OTHER

Study Design

Allocation
RANDOMIZED
Purpose
SCREENING
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
3 Years
Max Age
18 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-10-01
Primary Completion
2022-02-01
Completion
2023-08-01

Countries

  • Egypt

Study Locations

More Related Trials

Entities

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05029232 on ClinicalTrials.gov