2696273 regulatory update

GlaxoSmithKline submitted an MAA to EMA for GSK2696273 to treat severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADA-SCID) for use in patients for whom a matched bone marrow donor is not available. The ultra-rare disease is caused by inheritance of 2 mutant copies of the gene encoding ADA and results in an inability to make lymphocytes. GSK2696273 uses a retroviral vector to deliver a functional ADA gene into a patient’s own hematopoietic stem cells. The cells are harvested from bone marrow, transfected ex vivo and injected back into the patient.

The partners said the MAA is based on data from 18 patients, including 12 who participated in a pivotal Phase I/II trial. All 12 in that study were alive after an average follow-up period of 7 years; the earliest treated patient was alive after 11.5 years. The rate of intervention-free survival was 92%, defined as survival without the need for long-term use of enzyme replacement therapy (>3 months) or bone marrow transplant. ...