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July to September 2020 | Vol. 13 | Issue 3 | 27-28
Promising New Therapies for Genetic Disorders: Hope for a Brighter Future
Neelam Saini, Prajnya Ranganath
Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, India
Address for Correspondence Email: prajnyaranganath@gmail.com
Huntingtin (HTT)-lowering approaches with various genetic engineering techniques like genome editing, transcript targeting and protein targeting are current areas of research providing hope for a cure for Huntington disease (HD). A phase III clinical drug trial by Tabrizi et al. based on an allele-unspecific second-generation, chemically modified synthetic oligomer complementary to a 20-nucleotide portion of HTT mRNA (IONIS-HTTRx/RG6042) has shown very promising results. In the nucleus, hybridization of RG6042 with HTT pre-mRNA and mRNA leads to endogenous RNase H1-mediated degradation, which prevents further translation to HTT protein. The study showed that with four intrathecal injections of 120 mg HTTRx via lumbar puncture every 4 weeks, a significant reduction of mutant HTT protein in the cerebrospinal (CSF) fluid of about 40% at the two highest doses of 90 mg (p < 0.01) and 120 mg (p < 0.01) could be achieved. This effect was persistent during the subsequent 2-month follow-up period. Apart from headache due to lumbar puncture, no serious adverse events were reported.
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