Duchenne Muscular Distrophy (DMD)NCT01823783
Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction in Duchenne Muscular Dystrophy
A study testing Muscle biopsy in people with Duchenne Muscular Distrophy (DMD), run by University Hospital, Montpellier at 7 sites in France.
Trial summary
Duchenne muscular dystrophy (DMD) is the most common and devastating form of muscular dystrophy, caused by an X-chromosome gene mutation resulting in the absence of the protein dystrophin. Read more about this study
- Who is it for?
- Ages 2 to 15 yearsHealthy volunteers can take part
- Conditions the study is for
- Duchenne Muscular Distrophy (DMD)
- What is being tested?
- Muscle biopsy
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 7 sitesFrance
- Study dates
- 7 Nov 2012to Jan 2021
- 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 2 to 15 years
- All sexes
- Healthy volunteers accepted
- Child
Who may be able to join
- Boy between 2 to 15 years old.
- Lack of any infectious disease in the last week before the study.
- Consent form signed by parents.
- Clinical suspicion of Duchenne Muscular Dystrophy
- Lack of any antecedent of congenital cardiac, pulmonary or muscular disease including DMD.
Who cannot join
- Subjects who are unable or unwilling to tolerate study constraints
- Parents of the subject unable or unwilling to undergo informed consent
- Subject with no rights from the national health insurance programme
Trial locations and contacts
7 sites in 1 country.
François RIVIER, PU PH contact
Stefan Matecki, PU PH contact
7 sites in 1 country
France7 sites, 7 recruiting
- Recruiting
UH Bordeaux
Bordeaux, 33076
Caroline Epsil, caroline.epsil@chu-bordeaux.fr
Caroline Epsil, PH
- Recruiting
UH Lille
Lille, 59037
Jean-Marie Cuisset, PH, jean-marie.cuisset@chru-lille.fr
Jean-Marie Cuisset, PH
- Recruiting
Montpellier University Hospital
Montpellier, 34295
Claire Chauveton, c-chauveton@chu-montpellier.fr
François RIVIER, PU PH
- Recruiting
Necker Hospital
Paris, 75743
Isabelle DESGUERRE, PU PH, isabelle.desguerre@nck.aphp.fr
Isabelle Desguerre, PU PH
- Recruiting
UH Reims
Reims, 51092
Pascal Sabouraud, PH, psabouraud@chu-reims.fr
Pascal Sabouraud, PH
- Recruiting
UH Saint Etienne
Saint-Etienne, 42055
Stéphane CHABRIER, PH, stephane.chabrier@chu-st-etienne.fr
Stéphane CHABRIER, PH
- Recruiting
UH Toulouse
Toulouse, 31059
Claude Cances, PU PH, cances.c@chu-toulouse.fr
Claude Cances, PU PH
About this study
Official title: Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction : Potential Links and Targeted Pharmacotherapy in Duchenne Muscular Dystrophy (DMD).
Duchenne muscular dystrophy (DMD) is the most common and devastating form of muscular dystrophy, caused by an X-chromosome gene mutation resulting in the absence of the protein dystrophin. Gene therapy by exon skipping or stop codon read-through and cell therapy are at the stage of clinical assays with very promising results. Nevertheless, they will not allow a complete cure of DMD patients and they will concern only specific types of mutations. It is therefore crucial to develop other therapeutic strategies related to the natural history of the disease and targeted not on the dystrophin itself, but on the consequences of its absence.
Another crucial pathophysiological pathway in DMD is muscle cell calcium homeostasis, particularly via the ryanodine recepteur (RyR1).
Read more
Our study focus on the relationship between endomysial fibrosis, abnormal inflammation response and calcium homeostasis dysfunction which are not entirely established in DMD.
The identification of the biological mechanisms that play a role in the severity of the phenotype, particularly endomysial fibrosis, should allow the development of targeted pharmacotherapy as a complementary strategy for the future treatment of DMD.
- Conditions
- Duchenne Muscular Distrophy (DMD)
- Being tested
- Muscle biopsy
- Keywords
- Duchenne muscular distrophy, Endomysial Fibrosis, Muscular Inflammatory Response, Calcium Homeostasis Dysfunction, Muscle biopsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Muscle biopsyOther
Muscle biopsy
| Study group | Role | What they receive |
|---|---|---|
| DMD infant | Other | Muscle biopsy Receives: Other: Muscle biopsy |
| Control infant | Other | Muscle biopsy (during lower limb operation surgery for pure orthopedic causes) Receives: Other: Muscle biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Quantification of endomysial fibrosis
Measured: 1 day (biopsy day)
quantification of the muscle inflammation
- Measure of the protein (Immunofluorescence and western blot) and mRNA (qRT-PCR) expression of the following markers of muscular inflammation response
- Presence and quantification of cellular partners of inflammation and muscle regeneration (M1 (CD68/KP1) and M2 (CD206) macrophages, quiescent and activated satellite cells (CD56/NCAM) and endothelial cells (CD31/PECAM-1)).
Measured: 1 day (biopsy day)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Apr 2013 (estimated)
- Study start7 Nov 2012
- Primary completionJan 2021 (estimated)
- Study completionJan 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Duchenne Muscular Distrophy (DMD)Studies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe 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
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- François RIVIER, PU PH, Principal investigator, uh montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01823783
- Sponsor's protocol ID
- 8948
- Status last verified
- Feb 2020
- First submitted
- 22 Mar 2013
- Last updated
- 7 Feb 2020
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Feb 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction : Potential Links and Targeted Pharmacotherapy in Duchenne Muscular Dystrophy (DMD).
- ClinicalTrials.gov ID
- NCT01823783
- Acronym / sponsor ID
- 8948
- Conditions
- Duchenne Muscular Distrophy (DMD)
- Keywords
- Duchenne muscular distrophy, Endomysial Fibrosis, Muscular Inflammatory Response, Calcium Homeostasis Dysfunction, Muscle biopsy
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 7 Nov 2012 (actual)
- Primary completion
- Jan 2021 (estimated)
- Study completion
- Jan 2021 (estimated)
- First posted
- 4 Apr 2013 (estimated)
- 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.
Duchenne muscular dystrophy (DMD) is the most common and devastating form of muscular dystrophy, caused by an X-chromosome gene mutation resulting in the absence of the protein dystrophin. Gene therapy by exon skipping or stop codon read-through and cell therapy are at the stage of clinical assays with very promising results. Nevertheless, they will not allow a complete cure of DMD patients and they will concern only specific types of mutations. It is therefore crucial to develop other therapeutic strategies related to the natural history of the disease and targeted not on the dystrophin itself, but on the consequences of its absence.
Another crucial pathophysiological pathway in DMD is muscle cell calcium homeostasis, particularly via the ryanodine recepteur (RyR1).
Our study focus on the relationship between endomysial fibrosis, abnormal inflammation response and calcium homeostasis dysfunction which are not entirely established in DMD.
The identification of the biological mechanisms that play a role in the severity of the phenotype, particularly endomysial fibrosis, should allow the development of targeted pharmacotherapy as a complementary strategy for the future treatment of DMD.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| DMD infant | Other | Other: Muscle biopsyMuscle biopsy |
| Control infant | Other | Other: Muscle biopsyMuscle biopsy (during lower limb operation surgery for pure orthopedic causes) |
Who may qualify
- Ages
- 2 to 15 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- Boy between 2 to 15 years old.
- Lack of any infectious disease in the last week before the study.
- Consent form signed by parents.
- Clinical suspicion of Duchenne Muscular Dystrophy
- Lack of any antecedent of congenital cardiac, pulmonary or muscular disease including DMD.
Key exclusion criteria (3 listed)
- Subjects who are unable or unwilling to tolerate study constraints
- Parents of the subject unable or unwilling to undergo informed consent
- Subject with no rights from the national health insurance programme
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 |
|---|---|---|
| Muscle biopsyMuscle biopsy | Other | Control infant, DMD infant |
Primary outcome
Quantification of endomysial fibrosis
Time frame: 1 day (biopsy day)
quantification of the muscle inflammation
Time frame: 1 day (biopsy day)
* Measure of the protein (Immunofluorescence and western blot) and mRNA (qRT-PCR) expression of the following markers of muscular inflammation response * Presence and quantification of cellular partners of inflammation and muscle regeneration (M1 (CD68/KP1) and M2 (CD206) macrophages, quiescent and activated satellite cells (CD56/NCAM) and endothelial cells (CD31/PECAM-1)).
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Feb 2020.
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.
François RIVIER, PU PH contact
Stefan Matecki, PU PH contact
François RIVIER, PU PH principal investigator
uh montpellier
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Muscle biopsy in people with Duchenne Muscular Distrophy (DMD), run by University Hospital, Montpellier at 7 sites in France.
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 5 inclusion and 3 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 7 Feb 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in France. 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 François RIVIER, PU PH (f-rivier@chu-montpellier.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Quantification of endomysial fibrosis (time frame: 1 day (biopsy day)). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 7 Feb 2020.