ROMA (ITALPRESS) – Hemophilia A is a rare genetic pathology that affects about a person of 5,000; Patients are almost always male, because the disease is transmitted through chromosome X by carrier mothers. The disease is due to a deficiency of factor VIII, an essential protein for blood clotting.
Until today, the treatment was largely represented by the regular infusions of the missing factor VIII, to prevent or manage bleeding, often with a significant impact on the quality of life. The new gene therapy, produced by the American biotech BioMarin, uses an inactive viral vector (adeno-associated, AAV5) to carry a normal copy of the gene responsible for producing factor VIII. The treatment includes a single intravenous administration; this allows the organism to produce the factor of the lacking coagulation in an autonomous and lasting way. The ‘mancante’ gene, administered intravenously, is in fact to settle in the liver cells and induces them to produce factor VIII.
David, a 29-year-old, with the most severe form of hemophilia A, is the first patient in Lazio and one of the first in Italy to be treated with gene therapy. The young man is cured from birth with all therapies that have happened in these decades; Currently it is in treatment with infusions of factor VIII recombinant pegilato, twice a week. The disease did not prevent him from practicing agonistic swimming and continuing in the family tradition of working in the real estate field. But the need to be subjected two-three times a week to factor VIII infusions has nevertheless been an important limit for his entire life. Then, the offer came to undergo gene therapy: three hours of infusion to rewrite his future. And its organism has already begun to produce factor VIII.
The procedure was carried out in the first week of October by the medical team of the Unit “Hemorrgic and Trombotic Diseases” of Fondazione Policlinico Gemelli IRCCS, assisted by the doctor Domenico Tarantino of the Internal Pharmacy of Fondazione Policlinico Gemelli and the nursing staff of the Polyambulatory directed by the coordinator of the Carmelina Melchionda room. “The gene therapy for hemophilia is an extraordinary innovation for medicine and the community of people with hemophilia – says Professor Raimondo De Cristofaro, Associate of Internal Medicine at the Catholic University of the Sacred Heart and Director of UOSD Hemorrhagic and Trombotic Diseases –. This therapy addresses the root of the genetic cause of hemophilia A and not only its symptoms. For the patient this means gradually getting away from the periodic infusions of factor VIII, which have scanned his life until today. For me, that I have treated these people throughout my professional life, seeing factor VIII levels spontaneously increase and progressively from one control to another, it represents an indescribable emotion. Three weeks after the infusion of gene therapy, the patient arrived at a factor level VIII of 14%; the objective, in order to be able to permanently suspend the replacement therapy with the biweekly infusions of factor VIII, is to arrive at least 20-25%, but it is a goal that really appears at hand”.
In addition to the clinical benefit, the psychological and social impact of gene therapy is enormous: David will be able to live a life fuller, free and active, without the constant weight of infusions and fear of hemorrhagic complications. “Finally I live with a ‘normal law’, free to travel, work and do sports without more chains, embarrassments or infusions – says David -. It’s like a part of me finally stopped living in alert.” The availability of this treatment, reserved for the most serious forms of hemophilia A and without optimal control, is a challenge for the health system, given the still very high costs. But for the most serious patients it is a unique opportunity. “The therapy, for the first time in Lazio, is a goal that confirms the excellence of regional care – concludes Dr. Ernesto Borrelli, president of the Emophilic Association Lazio, AEL -. Reserved to a few specific cases, it passes a medical frontier waiting. Plause goes to doctors who have made it possible, with the wish that more and more patients can benefit from it.”.
– photo press office Fondazione Policlinico Universitario Agostino Gemelli IRCCS –
(ITALPRESS).
