ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2022

14. Science and Medicine

New treatments

ey0019.14-13 | New treatments | ESPEYB19

14.13. CRISPR-Cas9 in vivo gene editing for transthyretin amyloidosis

Gillmore Julian D , Gane Ed , Taubel Jorg , Kao Justin , Fontana Marianna , Maitland Michael L , Seitzer Jessica , O'Connell Daniel , Walsh Kathryn R , Wood Kristy , Phillips Jonathan , Xu Yuanxin , Amaral Adam , Boyd Adam P , Cehelsky Jeffrey E , McKee Mark D , Schiermeier Andrew , Harari Olivier , Murphy Andrew , Kyratsous Christos A , Zambrowicz Brian , Soltys Randy , Gutstein David E , Leonard John , Sepp-Lorenzino Laura , Lebwohl David

N Engl J Med. 2021 Aug 5;385(6):493–502. PMID: 34215024 doi: 10.1056/NEJMoa2107454. Epub 2021 Jun 26.Brief Summary: 6 patients with hereditary, life-threatening transthyretin amyloidosis were treated with a novel in vivo gene-editing therapeutic agent (NTLA-2001) based on CRISPR-Cas9 technology. The new agent was given intravenously in a single dose and was able to durably knockou...

ey0019.14-14 | New treatments | ESPEYB19

14.14. A novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-linked hypophosphatemia

Zhukouskaya Volha V , Jauze Louisa , Charles Severine , Leborgne Christian , Hilliquin Stephane , Sadoine Jeremy , Slimani Lotfi , Baroukh Brigitte , van Wittenberghe Laetitia , Daniele Natalie , Rajas Fabienne , Linglart Agnes , Mingozzi Federico , Chaussain Catherine , Bardet Claire , Ronzitti Giuseppe

Science Advances, 2021,7:eabj5018 doi: 10.1126/sciadv.abj5018Brief Summary: The authors developed a liver-targeting adeno-associated virus (AAV) vector carrying C-terminal FGF23 (cFGF23) to inhibit FGF23 signalling in a mouse model for X-linked hypophosphataemic rickets (hyp-duk mice). They were able to show that a single injection of AAV cFGF23 rescued the hyp-duk phenotype.<p class="abst...