The pain of parents that have to assume the reality of the fact that a rare and potentially fatal disease is affecting their child is almost unimaginable for those that aren’t confronted with such a situation. A course of treatment that can guarantee any sort of improvement is seen as the silver lining of a very dark cloud, while a possible cure seems more and more close to a miracle. The wonderful news is that such miracles are frequently coming true nowadays due to the remarkable progress the medical world is experiencing.

 

“The treatment is named Strimvelis and it implies the removal of stem cells from the patient’s bone marrow, followed by their “repair” in the laboratory in order to replace the mutated gene and to afterwards reintroduce them into the patient’s body where they begin to produce the missing enzyme.”

 

A rare disorder, called severe combined immunodeficiency, which affects the normal development of the adaptive immune system in newborns, seems to have met its match. The disease is characterized by genetic mutations that affect T cells and B cells (parts of the immune system) and leave the child very susceptible to infectious diseases. The current treatments available consist in either a bone marrow transplant that is often full of risks, or a lifelong course of enzyme replacement therapy, which is highly expensive. The new treatment at hand is represented by the use of genetic repair techniques and has been approved for commercial use in Europe, through the global pharmaceutical company GlaxoSmithKline, after a series of successful trials.

 

The treatment is named Strimvelis and it implies the removal of stem cells from the patient’s bone marrow, followed by their “repair” in the laboratory in order to replace the mutated gene and to afterwards reintroduce them into the patient’s body where they begin to produce the missing enzyme.

 

“The results of the clinical trials have demonstrated a 100% survival rate in their 18 participants. The children in question have been monitored for periods between 2.3 and 13.4 years and have shown a functional adaptive immune system and no side-effects.”

 

“This is the start of a new chapter in the treatment of rare genetic diseases and we hope that this therapeutic approach could also be used to help patients with other rare diseases in the future.” (Martin Andrews, head of the Rare Disease Unit at GlaxoSmithKline, GSK press release, May 2016)

 

The results of the clinical trials have demonstrated a 100% survival rate in their 18 participants. The children in question have been monitored for periods between 2.3 and 13.4 years and have shown a functional adaptive immune system and no side-effects. However, techniques that imply gene manipulation do not necessarily have the full, undoubted support of the entire medical community and this is not due to the fact that the techniques haven’t proven their efficiency, but has more to do with a hidden fear brought on by the fact that gene therapy implies “meddling” with the actual “building blocks of life” and the long term results of these interferences are not within the scientists’ reach just yet.

 

“I would be hesitant to call it a cure. Although there’s no reason to think it won’t last.” (Sven Kili, GlaxoSmithKline head of Gene Therapy Development, for MIT Technology Review)

 

 

Written by R.F.I

Sources:

Maria Pia Cicalese et al, Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency, Blood Journal, April 2016

http://www.gsk.com/en-gb/media/press-releases/2016/strimvelistm-receives-european-marketing-authorisation-to-treat-very-rare-disease-ada-scid/
http://genetics.thetech.org/about-genetics/new-therapies

http://www.sciencealert.com/first-gene-therapy-for-children-is-approved-in-europe

https://www.technologyreview.com/s/601390/gene-therapys-first-out-and-out-cure-is-here/

http://www.medicaldaily.com/glaxosmithkline-gene-therapy-children-europe-380510

https://www.genome.gov/13014325/learning-about-severe-combined-immunodeficiency-scid/