Scientists hunt for 'Modifier Genes' that could explain why some LMNA patients fare better than others
NCT ID NCT05394506
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravating genes. No treatment is being tested; the goal is to better understand why symptoms vary so widely among patients.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this could identify genes that make laminopathy milder or worse, pointing toward future targets for therapies.
What could go wrong
This is a small, early observational study (40 participants) that does not test any treatment. It may not find clear genetic modifiers, and results may not apply to all patients.
Disclaimer
Read more
Show less
This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for LAMINOPATHIES are added.
By submitting, you agree to our Terms of use
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Study contacts
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
-
Centre de référence maladies neuromusculaires, Hôpital Femme Mère Enfant, CHU Lyon
RECRUITINGBron, Auvergne-Rhône-Alpes, 69677, France
Contact Email: •••••@•••••
Contact Email: •••••@•••••
-
Centre de référence maladies neuromusculaires, Institut de myologie, Hôpital Pitié-Salpêtrière
RECRUITINGParis, France, 75013, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Email: •••••@•••••
-
Centre de référence pour les maladies cardiaques héréditaires
RECRUITINGParis, Paris, 75013, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
Laboratoire d'Explorations Fonctionnelles - Centre de Référence Maladies Neuromusculaires Rares, CHU Nantes
NOT_YET_RECRUITINGNantes, Loire-Atlantique, 44093, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
Service de Génétique médicale, CHU Rennes
NOT_YET_RECRUITINGRennes, Ille-et-Vilaine, 35000, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
Service de Neurologie, Réanimation Pédiatriques, Hôpital Raymond Poincaré, Hôpitaux Universitaires, Paris-Ile-de-France-Ouest
NOT_YET_RECRUITINGGarches, Île-de-France Region, 92380, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
Service de Neuropédiatrie, Centre de Référence Maladies Neuromusculaires, CHU de Montpellier
NOT_YET_RECRUITINGMontpellier, Hérault, 34295, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
Service de cardiologie & Service de Neurophysiologie - CHU de Rouen
RECRUITINGRouen, Normandy, 76031, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••