LAMIN: The LMNA Mutation Registry of North America
LAMIN is a North American registry that links North American and European sites through the PRIORITY network which is funded by the Leducq foundation. We are conducting a global genome-wide association study to determine the modifiers of disease presentation in patients with LMNA mutations.
PRIORITY is a 5-year study funded by the Leducq Foundation in an effort to determine the genotype-phenotype relation in LMNA-DCM, identify the underlying pathophysiological pathways, and to develop novel, mechanism-based treatments, including both personalized and broadly applicable approaches.
Goal
Our goal is to establish a North American registry of individuals who have disease-associated LMNA variants so that we can determine how disease develops and the genetic influence of disease development. By doing so, we hope to improve patient care by creating personalized treatment plans for each individual.
Aims
Determine the genetic modifiers that influence the different ways LMNA-mediated disease may manifest
Understand the full phenotypic spectrum of LMNA variants
Investigate the natural history of LMNA-mediated disease.
If you are a patient and interested in joining, we are approved for LMNA patients and families to self-enroll in our study if you desire. We may need to review your medical records to ensure that you are eligible for the study, but all medical records will be kept strictly confidential.
If you are a collaborator who is interested in joining or learning more about the registry, please click on the following link.
