CRISPR-Cas9 In vivo Gene Editing for Thransthyretin Amylodosis

The misfolded transthyretin (TTR) protein accumulates in the tissues, mainly in the nerves and the hearth of those affected with ATTR amyloidosis. While new therapies have been developed and recently approved but the treatment of hereditary mediated transthyretin related amyloidosis (h-ATTR) polyneuropathy, patisiran, and Tafamidis for the amyloid cardiomyopathy (ATTR-CM).  For some liver transplantation remains the gold standard for therapy if diagnosed early enough and depending on the other organ’s involvement.

Disease-modifying therapies and early diagnosis are needed for a brighter future in these patients. The work for Dr.Gillmore et all puts this reality a bit closer. 

In their paper published in NEJM, they report the results of a small study in 6 patients with h-ATTR of the treatment with NTLA-2001 in an in vivo gene-editing therapeutic agent. Safety was assessed 28 d post-infusion and the effects were measured as in the serum concentrations. The treatment led to a decrease of serum TTR concentrations with only mild side effects. While this is early days to understand the long-term effects or the efficacy of this treatment, this inhuman use of in vivo gene editing opens a very exciting chapter in the treatment of this condition and hopefully others too.