Orchard's portfolio of ex vivo, autologous, hematopoietic stem cell (HSC) based gene therapies includes Strimvelis, a gammaretroviral vector-based gene therapy and the first such treatment approved by the European Medicines Agency for severe combined immune deficiency due to adenosine deaminase deficiency
To appreciate how deliberate that progress has been, consider that the first successful experimental human gene therapy subject, suffering from an immune deficiency known as adenosine deaminase deficiency
(ADA), was treated in 1990; but in the United States it wasn't until 2017 that the first gene therapy (Kymriah) achieved FDA approval.
Meuwissen, "Characterization of the residual adenosine deaminating activity in the spleen of a patient with combined immunodeficiency disease and adenosine deaminase deficiency
," Proceedings of the National Academy of Sciences of the United States of America, vol.
Adenosine deaminase deficiency
increases thymic apoptosis and causes defective T cell receptor signaling.
In June 2016, GlaxoSmithKline, Fondazione Telethon and Ospedale San Raffaele gained European Commission approval for Strimvelis (autologous CD34+ cells transduced to express ADA), the first ex-vivo stem cell gene therapy to treat patients with severe combined immunodeficiency due to adenosine deaminase deficiency
Among their topics are immunological tests from the microscope to whole genome analysis, primary immunodeficiency in the developing countries, severe combined immunodeficiency as diseases of defective cytokine signaling, adenosine deaminase deficiency
as the first described genetic defect causing primary immunodeficiency disorder, how common variable immune deficiency has changed during six decades, and how primary immunodeficiencies have made gene therapy a reality.
Hirschhorn, "Adenosine deaminase deficiency
," Immunodeficiency Reviews, vol.
New insights into adenosine-receptor-mediated immunosuppression and the role of adenosine in causing the immunodeficiency associated with adenosine deaminase deficiency
. Eur J Immunol 2005; 35:25-30.
Genotype is an important determinant of phenotype in adenosine deaminase deficiency
. Curr Opin Immunol 2003; 15: 571-7.
Biotechnology company MolMed S.p.A (Milan: MLM.MI) announced today the signing of an agreement with GlaxoSmithKline (GSK)(LSE:GSK) under which MolMed will develop a production process for an investigational gene therapy for ADA-SCID (Adenosine Deaminase Deficiency
- Severe Combined Immune Deficiency).
MSUD is a genetic defect that is exhibited by an error at several points in the metabolic pathway (as is true for, say, phenyketonuria, PKU), it can be treated by diet (again as can PKU) and recently, thanks to our new knowledge of genetics and the human genome and technology developed for treatment of other inborn errors such as adenosine deaminase deficiency
, gene therapy is available.