The first medicine for etiotropny therapy муковисцидоза has met with FDA approval (management on supervision of food and medicinal substances) in the USA and will appear on sale soon, reports Associated Press.
Mukovistsidoz - the serious genetic illness, being shown the increased viscosity of the slime collecting in digestive, respiratory, urinogenital systems, and provoking emergence of a serious bacterial illness. Sick mukovistsidozy children seldom live to teenage age. The mechanism of emergence of a disease is connected with a mutation of the gene which is responsible for synthesis of protein, regulating transmembrane conductivity (cystic fibrosis transmembrane conductance regulator). At genetic violation of structure of protein there is a disregulyatsiya of ionic transport of chlorine and water through a membrane of mucous membranes of various bodies and systems.
The illness is considered incurable and exclusively symptomatic treatment was still applied to improvement of a condition of patients.
The encouraged Kalydeco medicine (active ingredient - an ivakaftor) - while the unique preparation operating directly on an aetiology - CFTR protein, - but only at one option of its mutation (G551D-CFTR) if in 155м situation amino acid a glycocoll is replaced with asparaginovy acid. In this case the substance promotes opening of the ionic channel under the influence of TsAMF, and according to a current of ions of chlorine in the correct direction. The preparation is let out by the American company Vertex Pharmaceuticals.
Clinical tests have shown improvement of work of pulmonary system for 10 %, increase in weight of a body of patients (at its usual shortcoming), and improvement of the general condition.
The preparation is intended for children from 6 years and adults. For younger group of children clinical tests only are carried out. Kalydeco only after carrying out the genetic analysis and confirmation of a mutation of marked type will be appointed. G551D-CFTR is at the bottom only of 4 % муковисцидоза and consequently it is shown only to one thousand people in the USA.
Development of a preparation has managed the companies from one hundred millions dollars, 75 from which have been provided by Fund муковисцидоза. Annual plan of treatment of Kalydeco will manage to the patient, and rather his relatives, almost in 300 thousand dollars, however without an insurance and with the limited income the company will provide to patients a preparation on a free basis. The insurance will cover a third of cost of medicine.
At present the pharmaceutical company tests also the preparation treating the most frequent form муковисцидоза, CFTR-?F508 connected with a mutation (amino acid loss фенилаланина).
Information on a preparation from page of the producer (pdf)