LaminopathiesLMNAModifierNCT05394506
Modifying Factors in Striated Muscle Laminopathies
A study testing Skin Biopsy and Muscle biopsy in people with Laminopathies and Emery Dreifuss Muscular Dystrophy 2, run by Institut National de la Santé Et de la Recherche Médicale, France at 8 sites in France.
Trial summary
Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvement being life-threatening. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Laminopathies, Emery Dreifuss Muscular Dystrophy 2, LMNA-Related Congenital Muscular Dystrophy
- What is being tested?
- Skin Biopsy and Muscle biopsy
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 8 sitesFrance
- Study dates
- 8 Sep 2022to 30 Dec 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patient with an LMNA mutation that has led to the diagnosis of laminopathy affecting striated muscle
- Presenting the symptoms of the disease, whether they are index cases or related to this index case (muscle weakness, tendon retractions with or without respiratory or cardiac involvement)
- Have no contraindication to muscle or skin biopsy, i.e., 1) presence of a history of allergy to latex, antiseptics, local anesthetics and adhesive dressings, 2) Current oral or parenteral anticoagulant therapy (anti-vitamin K, heparins, anti-platelet agents, anti-factor X, anti-thrombin), 3) History of inherited (haemophilias, platelet diseases) or acquired (vitamin K deficiency, liver failure) coagulation disorders.
- Patients (adult participant) or both holders of parental authority (minor participant) must sign a free and informed consent. If a minor has only 1 legal representative, the latter must attest to this on the consent form.
- Patients affiliated to the general French social security system, to the French Universal Medical Coverage (CMU) or to any French equivalent scheme.
Who cannot join
- Pregnant or breastfeeding women
- Adult subject to legal protection measures (safeguard of justice, curatorship and guardianship).
Trial locations and contacts
8 sites in 1 country. Contact the study team or a site near you to ask about taking part.
8 sites in 1 country
France8 sites, 8 recruiting
- Recruiting
Centre de référence maladies neuromusculaires, Hôpital Femme Mère Enfant, CHU Lyon
Bron, Auvergne-Rhône-Alpes, 69677
Françoise Bouhour, MD, françoise.bouhour@chu-lyon.fr
Véronique Manel, MD, veronique.manel@chu-lyon.fr
- Not yet recruiting
Service de Neurologie, Réanimation Pédiatriques, Hôpital Raymond Poincaré, Hôpitaux Universitaires, Paris-Ile-de-France-Ouest
Garches, Île-de-France Region, 92380
Susana Quijano-Roy, MD, +33147417890, susana.quijano-roy@aphp.fr
- Not yet recruiting
Service de Neuropédiatrie, Centre de Référence Maladies Neuromusculaires, CHU de Montpellier
Montpellier, Hérault, 34295
François Rivier, MD, +33467330182, f-rivier@chu-montpellier.fr
- Not yet recruiting
Laboratoire d'Explorations Fonctionnelles - Centre de Référence Maladies Neuromusculaires Rares, CHU Nantes
Nantes, Loire-Atlantique, 44093
Yann Pereon, MD, +33240083617, Yann.Pereon@univ-nantes.fr
Sandra Mercier, MD, +33240083245, sandra.mercier@chu-nantes.fr
- Recruiting
Centre de référence maladies neuromusculaires, Institut de myologie, Hôpital Pitié-Salpêtrière
Paris, France, 75013
Tanya Stojkovic, MD, tanya.stojkovic@aphp.fr
Anthony Behin, MD, +3342163774, anthony.behin@aphp.fr
- Recruiting
Centre de référence pour les maladies cardiaques héréditaires
Paris, Paris, 75013
Philippe Charron, MD, +33142162892, philippe.charron@aphp.fr
- Not yet recruiting
Service de Génétique médicale, CHU Rennes
Rennes, Ille-et-Vilaine, 35000
Melanie Fradin, MD, +33299266744, melanie.fradin@chu-rennes.fr
- Recruiting
Service de cardiologie & Service de Neurophysiologie - CHU de Rouen
Rouen, Normandy, 76031
Frédéric Anselme, MD, +33232888111, Frederic.Anselme@chu-rouen.fr
Lucie Guyant-Marechal, MD, +33232888037, lucie.guyant@chu-rouen.fr
About this study
Official title: Identification of Genetic Modifying Factors in Striated Muscle Laminopathies
Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvement being life-threatening. At the skeletal muscle level, a wide phenotypic spectrum has been described, ranging from severe forms of congenital muscular dystrophy to less severe forms of limb-girdle muscular dystrophy. The great clinical variability of striated muscle laminopathies, both inter- and intra-familial, can be observed in the age of onset, severity of signs and progression of muscle and heart involvement. To date, more than 400 LMNA mutations have been associated with striated muscle laminopathies (www.umd.be/LMNA/), highlighting strong clinical and genetic heterogeneity. A few recurrent mutations linked to a difference in severity have been identified. However, these genotype-phenotype relationships and the rare cases of digenism reported do not explain all the clinical variability of laminopathies. Therefore, there are probably other factors of severity than the causative mutation, called "modifier genes".
Identification of such modifier genes has been initiated by studying a large family with significant clinical variability in the age of onset of muscle signs. A segregation analysis within this family identified 2 potential modifier loci. High-throughput sequencing restricted to these 2 regions according to phenotypic subgroups did not led to meaningful results so far. In addition, an international retrospective study of the natural history of early muscle laminopathies has allowed the investigators to highlight a strong inter-family clinical variability in patients carrying recurrent mutations. The investigators thus have strong preliminary data that could allow them to identify modifying genetic factors in a cohort of patients carrying a mutation in the LMNA gene.
Read more
In order to identify these factors that modulate the clinical severity of laminopathies, the investigators wish to collect biological material (muscle and/or skin biopsies) from patients carrying a mutation in the LMNA gene. The study of this biological material using multi OMICs technics will allow the investigators to identify and functionally validate the action of these modifying genes.
OMIICs is a set of techniques for characterising biological molecules using high-throughput approaches such as DNA sequencing, RNA sequencing and/or chromatin conformation (ATACseq...), proteins.
- Conditions
- Laminopathies, Emery Dreifuss Muscular Dystrophy 2, LMNA-Related Congenital Muscular Dystrophy, Dilated Cardiomyopathy-1A
- Being tested
- Skin Biopsy, Muscle biopsy
- Keywords
- A-type lamins, LMNA, muscular dystrophy, modifier factor
- Medical subject headings
- Laminopathies, Autosomal Emery-Dreifuss Muscular Dystrophy, Muscular Dystrophy, Congenital, Lmna-Related, Cardiomyopathy, Dilated, Muscular Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin BiopsyProcedure or surgery
The skin biopsy is performed in the consultation outclinic room. A local anaesthetic (anaesthetic patch to be applied to the skin) is required for this procedure. The skin biopsy is usually performed on the front of the forearm (but can be performed on the arm, thigh or leg). After disinfection, a fragment of 3 to 4 mm in diameter is removed with a biopsy-punch (single-use device). If necessary, a suture can be placed. Otherwise, the wound is covered with Steristrip and a sterile dressing. The skin sample, intended for a fibroblast culture, will be placed in a flask to be kept at room temperature. It will be labelled with specific labels and sent to the local biological resource centre.
Muscle biopsyProcedure or surgery
The muscle biopsy is performed in a sterile room. A local anaesthetic is required for this procedure. After selecting the muscle from which the sample will be taken (usually from the deltoid muscle at the shoulder stump), placing a sterile field and disinfecting, a small incision is made in the skin until the selected muscle is exposed. A bundle of muscle fibres of approximately 1 cm x 0.5 cm is removed. The skin is then sutured and covered with a sterile dressing. The procedure takes about 30 minutes (including patient set-up). The muscle sample will be divided into 2 fragments, one for myoblast culture, the other for frozen tissue. The 2 vials will be labelled with specific labels and then sent to the local biological resource centre
| Study group | Role | What they receive |
|---|---|---|
| Collection of biological material | Other | Patients carrying LMNA mutation with no contrindication for skin and/or muscle biopsy:
* from large families with striking intrafamilial phenotypic variability (3 families identified).
* patients carrying p.Arg453Trp or p.Glu358Lys LMNA gene mutations Receives: Procedure: Skin Biopsy; Procedure: Muscle biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Skeletal muscle severity outcome
Will be a composite scale combining maximal motor acquisitions (sitting, walking, running) and what remains as motor skills with disease course (still running, only walking, only sitting, inability to sit)). In details:
- The maximal motor acquisitions (M2A) : no motor acquisitions = 0, only rolling = 1, only sitting = 2, only walking = 3, running = 4.
- The remaining motor skills (RMS) with disease course: still running = 3, only walking = 2, only sitting = 1, inability to sit = 0.
The composite scale for a given patient will be M2A + RMS.
Measured: 5 years
Cardiac muscle severity outcome
Will be a composite scale according to left ventricle ejection fraction (normal>55%, moderate <55% and >45%, severe<45%) and the presence or absence of conduction defects and arrhythmias.
Measured: 5 years
Protective structural variant outcome
Structural gene variants identified on patient biological materials by Whole Genome Sequencing (WGS), associated with the mild disease severity.
Measured: 5 years
Protective differential gene expression outcome
differential gene expression identified on patient biological materials by RNA sequencing (RNA-seq) associated with the mild disease severity.
Measured: 5 years
Protective 3D chromatin conformation outcome
3D conformation of chromatin identified on patient biological materials by Chromatin Immuno-Precipitaiton Sequencing (CHIP Seq) associated with the mild disease severity.
Measured: 5 years
Aggravating structural variant outcome
Structural gene variants identified on patient biological materials by Whole Genome Sequencing (WGS), associated with the worse disease severity.
Measured: 5 years
Aggravating differential gene expression outcome
Differential gene expression identified on patient biological materials by RNA sequencing (RNA-seq) associated with the worse disease severity.
Measured: 5 years
Aggravating 3D chromatin conformation outcome outcome
3D conformation of chromatin identified on patient biological materials by Chromatin Immuno-Precipitaiton Sequencing (CHIP Seq) associated with the worse disease severity.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 May 2022
- Study start8 Sep 2022
- Primary completion30 Sep 2027 (estimated)
- Study completion30 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for LaminopathiesStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe 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
- Not applicable
- Intervention model
- Single group
- Model description
- * To collect biological material (muscle and/or skin biopsies) and the phenotype of patients with mutations in the LMNA gene (within large families with variable clinical presentation or within cohorts of patients with recurrent mutations in the LMNA gene. * To grade the severity of the muscle phenotype of these patients (severe, moderate, mild). * Perform "omics" analysis on their biological material.
- Masking
- None (open label)
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05394506
- Sponsor's protocol ID
- C20-45
- Acronym
- LMNAModifier
- Status last verified
- Mar 2026
- First submitted
- 30 Mar 2022
- Last updated
- 4 Mar 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Granger B, Gueneau L, Drouin-Garraud V, Pedergnana V, Gagnon F, Ben Yaou R, Tezenas du Montcel S, Bonne G. Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. Hum Genet. 2011 Feb;129(2):149-59. doi: 10.1007/s00439-010-0909-1. Epub 2010 Nov 10.
PubMed 21063730Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gomez-Andres D, Reghan Foley A, Quijano-Roy S, Bonnemann CG, Bonne G. International retrospective natural history study of LMNA-related congenital muscular dystrophy. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul.
PubMed 34240052
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Genetic Modifying Factors in Striated Muscle Laminopathies
- ClinicalTrials.gov ID
- NCT05394506
- Acronym / sponsor ID
- LMNAModifier / C20-45
- Conditions
- Laminopathies, Emery Dreifuss Muscular Dystrophy 2, LMNA-Related Congenital Muscular Dystrophy, Dilated Cardiomyopathy-1A
- Keywords
- A-type lamins, LMNA, muscular dystrophy, modifier factor
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 8 Sep 2022 (actual)
- Primary completion
- 30 Sep 2027 (estimated)
- Study completion
- 30 Dec 2027 (estimated)
- First posted
- 27 May 2022 (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.
Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvement being life-threatening. At the skeletal muscle level, a wide phenotypic spectrum has been described, ranging from severe forms of congenital muscular dystrophy to less severe forms of limb-girdle muscular dystrophy. The great clinical variability of striated muscle laminopathies, both inter- and intra-familial, can be observed in the age of onset, severity of signs and progression of muscle and heart involvement. To date, more than 400 LMNA mutations have been associated with striated muscle laminopathies (www.umd.be/LMNA/), highlighting strong clinical and genetic heterogeneity. A few recurrent mutations linked to a difference in severity have been identified. However, these genotype-phenotype relationships and the rare cases of digenism reported do not explain all the clinical variability of laminopathies. Therefore, there are probably other factors of severity than the causative mutation, called "modifier genes".
Identification of such modifier genes has been initiated by studying a large family with significant clinical variability in the age of onset of muscle signs. A segregation analysis within this family identified 2 potential modifier loci. High-throughput sequencing restricted to these 2 regions according to phenotypic subgroups did not led to meaningful results so far. In addition, an international retrospective study of the natural history of early muscle laminopathies has allowed the investigators to highlight a strong inter-family clinical variability in patients carrying recurrent mutations. The investigators thus have strong preliminary data that could allow them to identify modifying genetic factors in a cohort of patients carrying a mutation in the LMNA gene.
In order to identify these factors that modulate the clinical severity of laminopathies, the investigators wish to collect biological material (muscle and/or skin biopsies) from patients carrying a mutation in the LMNA gene. The study of this biological material using multi OMICs technics will allow the investigators to identify and functionally validate the action of these modifying genes.
OMIICs is a set of techniques for characterising biological molecules using high-throughput approaches such as DNA sequencing, RNA sequencing and/or chromatin conformation (ATACseq...), proteins.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- * To collect biological material (muscle and/or skin biopsies) and the phenotype of patients with mutations in the LMNA gene (within large families with variable clinical presentation or within cohorts of patients with recurrent mutations in the LMNA gene. * To grade the severity of the muscle phenotype of these patients (severe, moderate, mild). * Perform "omics" analysis on their biological material.
| Arm | Type | Receives |
|---|---|---|
| Collection of biological material | Other | Procedure: Skin Biopsy, Procedure: Muscle biopsyPatients carrying LMNA mutation with no contrindication for skin and/or muscle biopsy: * from large families with striking intrafamilial phenotypic variability (3 families identified). * patients carrying p.Arg453Trp or p.Glu358Lys LMNA gene mutations |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- Patient with an LMNA mutation that has led to the diagnosis of laminopathy affecting striated muscle
- Presenting the symptoms of the disease, whether they are index cases or related to this index case (muscle weakness, tendon retractions with or without respiratory or cardiac involvement)
- Have no contraindication to muscle or skin biopsy, i.e., 1) presence of a history of allergy to latex, antiseptics, local anesthetics and adhesive dressings, 2) Current oral or parenteral anticoagulant therapy (anti-vitamin K, heparins, anti-platelet agents, anti-factor X, anti-thrombin), 3) History of inherited (haemophilias, platelet diseases) or acquired (vitamin K deficiency, liver failure) coagulation disorders.
- Patients (adult participant) or both holders of parental authority (minor participant) must sign a free and informed consent. If a minor has only 1 legal representative, the latter must attest to this on the consent form.
- Patients affiliated to the general French social security system, to the French Universal Medical Coverage (CMU) or to any French equivalent scheme.
Key exclusion criteria (2 listed)
- Pregnant or breastfeeding women
- Adult subject to legal protection measures (safeguard of justice, curatorship and guardianship).
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 |
|---|---|---|
| Skin BiopsyThe skin biopsy is performed in the consultation outclinic room. A local anaesthetic (anaesthetic patch to be applied to the skin) is required for this procedure. The skin biopsy is usually performed on the front of the forearm (but can be performed on the arm, thigh or leg). After disinfection, a fragment of 3 to 4 mm in diameter is removed with a biopsy-punch (single-use device). If necessary, a suture can be placed. Otherwise, the wound is covered with Steristrip and a sterile dressing. The skin sample, intended for a fibroblast culture, will be placed in a flask to be kept at room temperature. It will be labelled with specific labels and sent to the local biological resource centre. | Procedure or surgery | Collection of biological material |
| Muscle biopsyThe muscle biopsy is performed in a sterile room. A local anaesthetic is required for this procedure. After selecting the muscle from which the sample will be taken (usually from the deltoid muscle at the shoulder stump), placing a sterile field and disinfecting, a small incision is made in the skin until the selected muscle is exposed. A bundle of muscle fibres of approximately 1 cm x 0.5 cm is removed. The skin is then sutured and covered with a sterile dressing. The procedure takes about 30 minutes (including patient set-up). The muscle sample will be divided into 2 fragments, one for myoblast culture, the other for frozen tissue. The 2 vials will be labelled with specific labels and then sent to the local biological resource centre | Procedure or surgery | Collection of biological material |
Primary outcome
Skeletal muscle severity outcome
Time frame: 5 years
Will be a composite scale combining maximal motor acquisitions (sitting, walking, running) and what remains as motor skills with disease course (still running, only walking, only sitting, inability to sit)). In details: * The maximal motor acquisitions (M2A) : no motor acquisitions = 0, only rolling = 1, only sitting = 2, only walking = 3, running = 4. * The remaining motor skills (RMS) with disease course: still running = 3, only walking = 2, only sitting = 1, inability to sit = 0. The composite scale for a given patient will be M2A + RMS.
Cardiac muscle severity outcome
Time frame: 5 years
Will be a composite scale according to left ventricle ejection fraction (normal>55%, moderate <55% and >45%, severe<45%) and the presence or absence of conduction defects and arrhythmias.
Protective structural variant outcome
Time frame: 5 years
Structural gene variants identified on patient biological materials by Whole Genome Sequencing (WGS), associated with the mild disease severity.
Protective differential gene expression outcome
Time frame: 5 years
differential gene expression identified on patient biological materials by RNA sequencing (RNA-seq) associated with the mild disease severity.
Protective 3D chromatin conformation outcome
Time frame: 5 years
3D conformation of chromatin identified on patient biological materials by Chromatin Immuno-Precipitaiton Sequencing (CHIP Seq) associated with the mild disease severity.
Aggravating structural variant outcome
Time frame: 5 years
Structural gene variants identified on patient biological materials by Whole Genome Sequencing (WGS), associated with the worse disease severity.
Aggravating differential gene expression outcome
Time frame: 5 years
Differential gene expression identified on patient biological materials by RNA sequencing (RNA-seq) associated with the worse disease severity.
Aggravating 3D chromatin conformation outcome outcome
Time frame: 5 years
3D conformation of chromatin identified on patient biological materials by Chromatin Immuno-Precipitaiton Sequencing (CHIP Seq) associated with the worse disease severity.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Mar 2026.
- Background: PubMed 21063730Granger B, Gueneau L, Drouin-Garraud V, Pedergnana V, Gagnon F, Ben Yaou R, Tezenas du Montcel S, Bonne G. Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. Hum Genet. 2011 Feb;129(2):149-59. doi: 10.1007/s00439-010-0909-1. Epub 2010 Nov 10.
- Background: PubMed 34240052Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gomez-Andres D, Reghan Foley A, Quijano-Roy S, Bonnemann CG, Bonne G. International retrospective natural history study of LMNA-related congenital muscular dystrophy. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul.
- UMD LMNA mutation databaseLink provided by the sponsor.
- Individual participant dataSharing planned: No
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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.
8 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Skin Biopsy and Muscle biopsy in people with Laminopathies and Emery Dreifuss Muscular Dystrophy 2, run by Institut National de la Santé Et de la Recherche Médicale, France at 8 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 2 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: looking for participants now, as of the sponsor's last update on 4 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Gisele Bonne, Phd (+33142165724, g.bonne@institut-myologie.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Skeletal muscle severity outcome (time frame: 5 years). The study lists 8 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 NCT05394506, which also lists 2 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 4 Mar 2026.