Duchenne Muscular DystrophyNCT05029232
Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital
A study testing MLPA for duchenne in people with Duchenne Muscular Dystrophy, run by Sohag University at 1 site in Egypt.
Trial 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… Read more about this study
- Who is it for?
- Ages 3 to 18 years, men only
- Conditions the study is for
- Duchenne Muscular Dystrophy
- What is being tested?
- MLPA for duchenne
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 1 siteEgypt
- Study dates
- 1 Oct 2021to 1 Aug 2023
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 3 to 18 years
- Men only
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
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
- Duchenne Muscular Dystrophy
- Being tested
- MLPA for duchenne
- Medical subject headings
- Muscular Dystrophy, Duchenne
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MLPA for duchenneDiagnostic test
Also called muscle enzymes, thyroid function, EMG , nerve conduction for limbs, echocardiography , MRI brain , IQ test
MLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up
| Study group | Role | What they receive |
|---|---|---|
| ambulant patient with DMD | Active comparator | patient that walk alone or with minor assist Receives: Diagnostic Test: MLPA for duchenne |
| non ambulant patient with DMD | Active comparator | patient need wheel chair Receives: Diagnostic Test: MLPA for duchenne |
What is being measured
The primary outcome is the main question the study is designed to answer.
change in dystrophine gene mutation
MLPA test
Measured: within six months
change in MRI findings in DMX patient from normal
by MRI brain
Measured: within six months
change in cardiac function in DMD patient
by Echocardiography to detect EF, FS
Measured: within six months
change in thyroid function in DMD patient
by thyroid function test
Measured: within six months
change in cognitive function in DMD patients
by Stanford IQ test
Measured: within six months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Aug 2021
- Study start1 Oct 2021 (estimated)
- Primary completion1 Feb 2022 (estimated)
- Study completion1 Aug 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Duchenne Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by Sohag 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sohag University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Nehal Samy Abdo, Sohag University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05029232
- Sponsor's protocol ID
- Soh-Med-21-07-21
- Status last verified
- Aug 2021
- First submitted
- 14 Jul 2021
- Last updated
- 31 Aug 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Publications
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.
PubMed 29395989Birnkrant 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.
PubMed 29395990Giliberto 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.
PubMed 24135430
Study at a glance
From the registry record, last updated by the sponsor on 31 Aug 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital
- ClinicalTrials.gov ID
- NCT05029232
- Acronym / sponsor ID
- Soh-Med-21-07-21
- Conditions
- Duchenne Muscular Dystrophy
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Sohag UniversityUniversity, hospital or other
- Study start
- 1 Oct 2021 (estimated)
- Primary completion
- 1 Feb 2022 (estimated)
- Study completion
- 1 Aug 2023 (estimated)
- First posted
- 31 Aug 2021 (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.
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 design
- Primary purpose
- Screening
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| ambulant patient with DMD | Active comparator | Diagnostic Test: MLPA for duchennepatient that walk alone or with minor assist |
| non ambulant patient with DMD | Active comparator | Diagnostic Test: MLPA for duchennepatient need wheel chair |
Who may qualify
- Ages
- 3 to 18 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (4 listed)
- 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
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 |
|---|---|---|
| MLPA for duchenneAlso: muscle enzymes, thyroid function, EMG , nerve conduction for limbs, echocardiography , MRI brain , IQ testMLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up | Diagnostic test | ambulant patient with DMD, non ambulant patient with DMD |
Primary outcome
change in dystrophine gene mutation
Time frame: within six months
MLPA test
change in MRI findings in DMX patient from normal
Time frame: within six months
by MRI brain
change in cardiac function in DMD patient
Time frame: within six months
by Echocardiography to detect EF, FS
change in thyroid function in DMD patient
Time frame: within six months
by thyroid function test
change in cognitive function in DMD patients
Time frame: within six months
by Stanford IQ test
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Aug 2021.
- Background: PubMed 29395989Birnkrant 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.
- Background: PubMed 29395990Birnkrant 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.
- Background: PubMed 24135430Giliberto 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.
- Individual participant dataSharing planned: Yes
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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. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing MLPA for duchenne in people with Duchenne Muscular Dystrophy, run by Sohag 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 3 inclusion and 4 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: status not confirmed, as of the sponsor's last update on 31 Aug 2021. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact nehal s abdel magoud, assistant lecturer (01091666230, nehal.abdelmawgoud@med.sohag.edu.eg), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
change in dystrophine gene mutation (time frame: within six months). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05029232, which also lists 3 linked publications.
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 31 Aug 2021.