Genetics Research

Dilated Cardiomyopathy due to LMNA (Lamin A/C) gene mutations: We are participating in the open-label extension study, A Rollover Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy. This study was designed to pilot a novel treatment for LMNA-related dilated cardiomyopathy in twelve patients. This trial is still active, but recruitment has closed. More details available at: ClinicalTrials.gov (Study Number: NCT02351856) 

Hypertrophic Cardiomyopathy: We are participating in the ongoing VANISH (Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM) trial that is treating patients with early-stage Hypertrophic Cardiomyopathy (HCM) with specific genetic mutations. This trial is still active, but recruitment has closed. More details available at: ClinicalTrials.gov (Study Number: NCT01912534)

Registry Trials:
Our ongoing disease registry trials remain active and include recruitment for patients with:

Familial Dilated Cardiomyopathy Registry: Enrolling patients and families with

• Dilated Cardiomyopathy
• Arrhythmogenic Right Ventricular Cardiomyopathy
• Left Ventricular Non-Compaction

Danon Disease Registry: Enrolling patients and families with

• Danon Disease (LAMP2 deficiency)

Lysosomal Storage Disease Registry: Enrolling patients and families with

• Fabry Disease
• Gaucher Disease
• Mucopolysaccharidoses
• Pompe Disease

LMNA Disease Registry: Enrolling patients and families with LMNA (Lamin A/C) related genetic cardiomyopathy

Rare-Disease / Mystery-Diagnosis Registry:  We are always interested in hearing from patients and families with rare or unusual (so called ‘mystery diagnoses’)