NAC-ATTACK
NAC Attack is a Phase III, multicenter, randomized, parallel, and placebo-controlled study that evaluates the efficacy and safety of oral N-acetylcysteine (NAC) in patients with retinitis pigmentosa (RP). This drug may be able to slow the progression of RP.
REDUCE ER STRESS
Westerfield and colleagues are busy testing various medicines against Parkinson’s disease and Alzheimer’s disease in their zebrafish models for Usher Syndrome. Expectations are that this will slow down the deterioration of the hearing and eyesight of the zebrafish.
BF844 MEDICINE FOR STABEL CLARINE1
Dr Yoshikazu Imanishi of Case Western Reserve University in Cleveland (Ohio, USA) is focusing on the development of therapy for Usher Syndrome 3A. One of the most frequent mutations in USH3A is the N48K mutation. Imanishi studies the clarin-1 protein with the N48K mutation in cultivated cells. This study demonstrated that the N48K mutation makes the clarin-1 protein unstable and this leads to the cell quickly destroying the clarin-1 protein again.
‘TRANSLATION READ-THROUGH’ THERAPY
Many mutations causing Usher Syndrome are ‘nonsense mutations’. This means that the mutation prematurely stops the protein production process, a so-called ‘stop sign’. Nagel-Wolfrum studied read-through medicines (abbreviated by TRID = Translational Readthrough Inducing Drug), as a possible therapy for USH 1C. These ‘read-through’ medicines can make the protein production machine ignore the ‘stop sign’ and so make the machine produce the complete protein. TRID medicines have existed for some time already, but they often have adverse effects on the body.
IMPROVED RELEASE OF NEUROTRANSMITTERS
Alaa Koleilat studied three already existing and by the FDA approved medicines that can increase the release of neurotransmitters. Although the results with animal models are promising, these medicines cannot be administered to patients right away. As these medicines have been developed for other diseases, their effectiveness and safety in the ear are still unclear.
START ATALUREN FOR TRIAL
The medicine Ataluren (TranslarnaTM) binds itself to the “protein machine” and weakens the recognition of the stop signal and can “overwrite” this. This leads to the production of normal proteins over the full length
