Cardiac and Lysosomal Storage Disorders
Research activity includes Danon disease, with a focus on heart muscle involvement and the correction of LAMP2 deficiency in cardiomyopathy.
- Cardiac gene therapy
- Myocardial tissue expression
- Left ventricular mass
The sponsor’s interest in this area centers on inherited conditions affecting cardiac function and cardiac remodeling.
Primary Immunodeficiency
Clinical research covers Leukocyte Adhesion Deficiency-I, a severe inherited disorder of immune cell trafficking and host defense.
- Hematopoietic stem cell gene therapy
- ITGB2
- Immune cell function
Work in this domain addresses restoration of leukocyte adhesion and immune competence in affected patients.
Bone Marrow Failure Syndromes
Studies include Fanconi anemia subtype A, with emphasis on inherited DNA repair defects and related hematologic failure.
- FANCA gene correction
- Blood count normalization
- Bone marrow stability
This area also involves monitoring for clonality and long-term blood cell recovery after gene-based treatment.
Inherited Anemias and Red Blood Cell Disorders
Research extends to pyruvate kinase deficiency, an inherited red blood cell disorder associated with chronic hemolytic anemia.
- Pyruvate kinase gene therapy
- Transfusion dependence
- Anemia reduction
Clinical interest also includes broader pyruvate kinase deficiency terminology used across adult and pediatric hematology research.
Long-Term Gene Therapy Follow-Up
The sponsor funds extended follow-up across multiple inherited diseases to assess durable effects after autologous cell therapy and lentiviral vector treatment.
- Transgene persistence
- Replication-competent lentivirus
- Long-term safety
This research area spans ongoing observation of hematologic stability, phenotypic correction, and treatment durability in rare genetic disease populations.
