What is hATTR Amyloidosis or FAP?
Familial Amyloid Polyneuropathy (FAP) is a rare inherited disease caused by a specific mutation in your
own DNA in a gene which codes for the Transthyretin protein (TTR). If you have this mutation, the TTR
protein becomes sticky and forms clumps of amyloid within your small blood vessels and over many
years this will damage your nerves (causing numbness and weakness) and heart (causing heart
These symptoms do not appear until a person is an adult. FAP is passed on between generations in an
autosomal dominant pattern – which means if someone has the disease then half of his/her brothers
and sisters will have the disease and half of his/her children will also develop the disease in the future.
There are an estimated 50,000 patients with FAP worldwide and 100 in New Zealand.
Present Treatment in NZ
Up until now the only effective treatment for FAP has been liver transplantation, which replaces the
liver which makes the abnormal TTR with one which does not. Unfortunately liver transplantation is
very limited and to-date only 9 New Zealanders with FAP have been transplanted.
CRISPR/Cas9 is a new gene editingtreatmentthat can make remove the abnormal Transthyretin gene
and stop the production of the abnormal TTR protein, thereby stopping amyloid deposition and
preventing nerve and heart damage, thereby ensuring normal quality and length of life. A single
intravenous treatment should permanently knockdown the production of TTR protein providing a cure
for patients with FAP.
Intellia Pharmaceuticals is running a global Phase 1 trial in adults with FAP. The trial’s main goals are to
assess the safety, tolerability, pharmacokinetics and pharmacodynamics of study drug NTLA-2001.
NTLA-2001 is the first experimental CRISPR therapy systemically given to patients to edit genes inside
the human body. NTLA-2001 could potentially be the first curative treatment for FAP.
To learn more on this technology, watch the following video