Gene therapy
-aims to deliver functional copies of target gene where disease manifests.
SPINRAZA (nusinersen)
-survival motor neuron 2 AS-ON
-indicated for SMA
-increases exon 7 inclusion and makes full-length SMN protein
EXONDYS 51
-AS-ON
-treatment of patients who have DMD and cannot produce dystrophin
-medication recognizes exon 51 and binds; influencing splicing machinery to skip exon 51
TRIKAFTA
-CF medication indicated for patients 6 years or older
-must have at least one mutation in CFTR gene that is responsibe
2 copies of F508del mutation; class II
In order to take ORKAMBI, the patient must have what mutation?
In-frame
Orkambi is for patients who possess what type of mutation?
Class I
-CF class with nonsense mutation
-leads to very short and unstable CFTR protein
Class III
-G551D mutation
-CFTR protein is trafficked from ER to cell surface, but cl ion gate is closed or faulty