The Cyprus Institute of Neurology to participate in international study on familial amyloidotic polyneuropathy

The Cyprus Institute of Neurology to participate in international study on familial amyloidotic polyneuropathy

The Cyprus Institute of Neurology and Genetics will participate for the first time at an international study undertaken by American Alnylam Pharmaceuticals company, for the treatment of familial amyloidotic polyneuropathy (FAP).

The study has been submitted for approval by Cyprus National Bioethics Committee and is expected to last for 18 months. People affected by the disease in Cyprus are members of 22 families and come mainly from two districts, Kyrenia and Limassol.

Speaking at a press conference in Nicosia, The Cyprus Institute of Neurology & Genetics Acting Chief Executive Medical Director Leonidas Phylactou noted that the Institute was chosen after a thorough evaluation as the centre for the first clinical trial for this disease. He noted that this proves once again that the Institute`s trustworthiness is recognized not only in Cyprus and Europe, but in the US as well.

Familial amyloid polyneuropathy (FAP), also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis or Corino de Andrade`s disease, is an autosomal dominant neurodegenerative disease. It is a form of amyloidosis, and was first identified and described by Portuguese neurologist Mário Corino da Costa Andrade, in the 1950s. FAP can be ameliorated by liver transplantation. Usually manifesting itself between 20 and 40 years of age, it is characterized by pain, paresthesia, muscular weakness and autonomic dysfunction. In its terminal state, the kidneys and the heart are affected. FAP is characterized by the systemic deposition of amyloidogenic variants of the transthyretin (TTR) protein, especially in the peripheral nervous system, causing a progressive sensory and motor polyneuropathy.

It is estimated that FAP affects approximately 10,000 people worldwide. FAP patients have a life expectancy of five to 15 years from symptom onset, and the only treatment options for early stage disease are liver transplantation and TTR stabilizers such as tafamidis (approved in Europe) and diflunisal. Alnylam`s approach to the treatment of Transthyretin (TTR)-mediated amyloidosis (ATTR) is to employ the RNAi mechanism to knockdown the disease-causing TTR protein, which is primarily synthesized in the liver. Patisiran employs a TTR-targeting siRNA that knocks down both wild-type and all mutant forms of TTR in a lipid nanoparticle formulation that targets delivery to the liver; it is administered by intravenous infusion. The therapeutic hypothesis that lowering TTR will result in clinical benefit is supported by data from FAP patients receiving liver transplants, and from other systemic amyloidotic diseases, which show that as little as a 50% reduction of the disease-causing protein can result in disease improvement or stabilization.

In November 2013, Alnylam initiated the APOLLO Phase 3 trial of patisiran in ATTR patients with FAP; this study is now ongoing. The APOLLO Phase 3 trial is a randomized, double-blind, placebo-controlled, global study designed to evaluate the efficacy and safety of patisiran in ATTR patients with FAP.