Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital
1 other identifier
interventional
50
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for not_applicable
Started Oct 2021
Typical duration for not_applicable
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
July 14, 2021
CompletedFirst Posted
Study publicly available on registry
August 31, 2021
CompletedStudy Start
First participant enrolled
October 1, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
February 1, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
August 1, 2023
CompletedAugust 31, 2021
August 1, 2021
4 months
July 14, 2021
August 29, 2021
Conditions
Outcome Measures
Primary Outcomes (5)
change in dystrophine gene mutation
MLPA test
within six months
change in MRI findings in DMX patient from normal
by MRI brain
within six months
change in cardiac function in DMD patient
by Echocardiography to detect EF, FS
within six months
change in thyroid function in DMD patient
by thyroid function test
within six months
change in cognitive function in DMD patients
by Stanford IQ test
within six months
Study Arms (2)
ambulant patient with DMD
ACTIVE COMPARATORpatient that walk alone or with minor assist
non ambulant patient with DMD
ACTIVE COMPARATORpatient need wheel chair
Interventions
MLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up
Eligibility Criteria
You may qualify if:
- age of onset between 3- and 18-year-old
- typical clinical manifestation of Duchenne muscular dystrophy
- 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.
You may not qualify if:
- children with another congenital muscular dystrophy
- children with other types of myopathies
- presence of CNS disorders such as brain insult \& spinal muscular atrophy
- female gender
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Sohag Universitylead
Study Sites (1)
Sohag University Hospital
Sohag, Egypt
Related Publications (3)
Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N, Tomezsko J, Wagner KR, Ward LM, Weber DR; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018 Mar;17(3):251-267. doi: 10.1016/S1474-4422(18)30024-3. Epub 2018 Feb 3.
PMID: 29395989BACKGROUNDBirnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK, Sheehan DW, Bolen J, Weber DR, Ward LM; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347-361. doi: 10.1016/S1474-4422(18)30025-5. Epub 2018 Feb 3.
PMID: 29395990BACKGROUNDGiliberto F, Radic CP, Luce L, Ferreiro V, de Brasi C, Szijan I. Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization. J Neurol Sci. 2014 Jan 15;336(1-2):36-41. doi: 10.1016/j.jns.2013.09.036. Epub 2013 Oct 5.
PMID: 24135430BACKGROUND
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- RANDOMIZED
- Masking
- NONE
- Purpose
- SCREENING
- Intervention Model
- PARALLEL
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Assistant lecturer of pediatric. sohag university hospitals
Study Record Dates
First Submitted
July 14, 2021
First Posted
August 31, 2021
Study Start
October 1, 2021
Primary Completion
February 1, 2022
Study Completion
August 1, 2023
Last Updated
August 31, 2021
Record last verified: 2021-08
Data Sharing
- IPD Sharing
- Will share