Genetics Research

Sangamo: A Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease

Tenaya: This seroprevalence study is designed to assess the pre-existing antibodies to AAV in a population of patients with PKP2-associated ARVC who may be eligible for subsequent gene therapy trials.

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:

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’)