Nobody puts gene therapies for rare diseases in a corner. After what happened for the Ada-Scid immunodeficiency, gene therapy for another rare disease of the immune system, Wiskott-Aldrich syndrome, also risked not being available due to the reversal of the pharmaceutical company that had taken over the license . For this reason, on the occasion of Rare Diseases Day, the Telethon Foundation announced that it will take on the responsibility of marketing the treatment, created – among other things – in its laboratories, so that it reaches the patients who need it.
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Wiskott-Aldrich syndrome
Recurrent and frequent infections, eczema, bleeding, increased risk of developing autoimmune diseases and blood cancers (lymphomas) are the main symptoms suffered by children born with Wiskott-Aldrich syndrome. This condition is caused by a genetic abnormality (based on the X chromosome) that compromises the normal functioning of the immune system, which can be supported by regular infusions of immunoglobulins to treat and prevent infections. The only potentially curative therapy is a blood stem cell transplant from a compatible donor – a process that can still have complications, especially if it is done after 5 years of age. For some patients, transplantation from a compatible donor is not feasible.
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Gene therapy
But in recent years a gene therapy developed in laboratories supported by the Telethon Foundation has given a normal life expectancy, with excellent results in terms of survival and effectiveness. In short, the patient’s blood stem cells are taken and modified in the laboratory to carry an exact copy of the gene that underlies the syndrome. Afterwards, following chemotherapy similar to that used for marrow transplant, the “healthy” cells are returned to the patient. So far the people treated (28 at the San Raffaele-Telethon Institute in Milan) have responded well: the therapy seems to have restored immune function, with a clear decrease in infections, an increase in platelets and an improvement in typical manifestations such as eczema, petechiae and bleeding. These improvements allowed the suspension of immunoglobulins and the patients were able to recover the community life that the disease had denied, from attending school to playing sports and working.
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The first non-profit to produce and distribute a drug
Given the results of the trials, the gene therapy for Wiskott-Aldrich syndrome was first taken over by GSK and then sold to Orchard Therapeutics. The latter, however, subsequently decided to abandon investments in the field of immunodeficiencies. Thus, to prevent an effective treatment from simply being put in a drawer, with all the scientific work and funds that were necessary to achieve such a result, the Telethon Foundation requested the return of the license and, for the second time in its history of non-profit (it had already done so – the first case in the world – to “save” the gene therapy for the Ada-Scid immunodeficiency), decided to start the process to be able to produce and distribute the therapy.
This time the undertaking will be even more challenging: for the gene therapy for Ada-Scid the marketing authorization had already been obtained, for that for Wiskott-Aldrich syndrome, however, this was not the case. The Telethon Foundation will therefore have to go through the approval process of the European regulatory bodies, supported however by a contact person that the European Medicines Agency (EMA) has made available through its pilot project to accelerate the development of advanced therapies.
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“There is no better occasion than World Rare Disease Day to announce our commitment to making gene therapy available as a treatment for Wiskott-Aldrich syndrome, a rare genetic disease of the immune system – he declared Francesca Pasinelli, managing director of the Telethon Foundation – After the decision taken for gene therapy for Ada-Scid, we want to guarantee the availability of another treatment which would otherwise risk failure to access the market. Having been selected by the EMA for its European program for the development of advanced therapies is a recognition of our ability to bring this therapy to approval in Europe, thanks to our vision and the expertise we have at our disposal.”