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Ataksje zwyrodnieniowe: wyzwania w badaniach klinicznych
DOI: https://doi.org/10.26625/np.2017.0.3.20
Abstrakt
Ataksje zwyrodnieniowe są bardzo niejednorodną grupą schorzeń, do której należą liczne choroby dziedziczne, a także jednostki chorobowe wyraźnie „sporadyczne”. Eksplozja odkryć dotyczących defektów genetycznych i odnoszących się do nich patomechanizmów doprowadziła nas na próg odkrycia istotnych metod leczenia niektórych, choć nie wszystkich, z tych chorób. Nadal brakuje wiedzy co do przyczyn choroby u sporego odsetka pacjentów. Ogólna rzadkość ataksji oraz jeszcze większa rzadkość występowania poszczególnych genetycznych jednostek chorobowych wraz z powolnym i zmiennym przebiegiem choroby oraz zmienne rokowanie w zestawieniu z gwałtownym rozwojem możliwych metod leczenia na horyzoncie, takich jak zastąpienie i wypłukiwanie genu, stawiają ataksje na unikalnej pozycji, odmiennej od podobnych chorób zwyrodnieniowych. Wydaje się, że tempo badań naukowych w laboratoriach nie pokrywa się z szybkością badań klinicznych i gotowością do prób klinicznych. Przegląd ten jest podsumowaniem poglądów autora na różne wyzwania badania translacyjnego w ataksjach i nadziei na pobudzenie dalszych pomysłów oraz dyskusji, jak rzeczywiście pomóc pacjentom.
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