Patients with Familial Amyloid Polyneuropathy are Born with a Mutation in the TTR Gene which Leads to the Disorder

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid neuropathy is a genetic disorder caused by the deposition of insoluble amyloid fibrils around the peripheral nerves and in various tissues, including the heart muscle. Transthyretin is a transporter of retinol and thyroid hormone; majority of which is made in liver and small amount of the protein is made in brain and eyes. The prevalence of familial amyloid polyneuropathy is very low across the globe. According to a review article published in The Lancet Neurology, although FAP cases has been reported throughout the world, but in Europe there exists strong genotypic heterogeneity. The article also mentions that 30 different TTR gene variants are reported in Japan and France.

Currently over 30 different proteins are found to cause amyloid deposition. Familial amyloid polyneuropathy is characterized by slowly progressive, peripheral sensorimotor polyneuropathy and autonomic dysfunction. Symptoms for the disorder include limb weakness, and loss of sensation in case of peripheral neuropathy, bowel disturbance and sexual dysfunction in case of autonomic neuropathy. Cardiomyopathy may also cause heart dysfunction and even failure. Patients with familial amyloid polyneuropathy are born with a mutation in the TTR gene which leads to the disorder. Although majority of the symptoms are experience in the middle age, some patients may experience a symptomless condition and my just transfer the mutated gene to their offspring. The disorder is mainly diagnosed through tissue biopsy of abdominal fats, heart or rectum. Genetic tests are also recommended for detecting mutation in TTR gene.

Liver transplant has proved to be the most successful cure for the disorder. But with long waiting periods for liver transplants, there is a need for effective treatment of familial amyloid polyneuropathy. In Europe, only one drug has been approved for the treatment of FAP- Vyndaqel (tafamidis) by Pfizer. However the drug is under Phase III clinical trials to seek U.S. FDA approval. It has also been found that nonsteroidal anti-inflammatory drug (NSAID) diflunisal is effective in restricting the progression of neurological impairment. Although not FDA approved, the drug is prescribed by many physicians as an off label prescription. In 2014, GlaxoSmithKline paid U.S. based Isis Pharmaceuticals USD 1 million for the advancement of the Phase III study of ISIS-TTRRx in patients with familial amyloid polyneuropathy. ISIS-TTRRx is an antisense drug which reduces the amount of mutant. Treatment with ISIS-TTRRx lowers the amount of disease causing protein found in the blood.

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The report finds out that familial amyloid polyneuropathy (FAP) is prevalent in very small numbers across the globe. It is a genetic disorder wherein mutation in the transthyretin amyloid neuropathy (TTR) gene leads to the condition. Transthyretin transports retinol and thyroid hormone in the body. The condition is characterized by symptoms such as limb weakness and loss of sensation, among others, and marked by a very slow development.

In consideration of the prevalence of FAP, according to an article published in The Lancet Neurology, whilst FAP cases have been registered across the world, Europe accounts for strong genotypic heterogeneity, which is a precursor for genetic conditions such as FAP.

The line of treatment for FAP is also not well recognized. While liver transplant has proven to be the most successful remedy for the condition, long waiting periods for the availability of donors requires alternate effective treatment of FAP.

Worldwide, several clinical agencies and pharmaceutical companies have undertaken a significant number of clinical studies for the treatment of FAP. In Europe, only one drug has received governmental approval for the treatment of FAP: Vyndaqel. The drug is still under Phase III clinical trials to seek approval of the U.S. FDA.

Other than this, some other drugs have been found to be effective for the treatment of FAP. Nonsteroidal anti-inflammatory drugs (NSAID) are prescribed by physicians as an off-label medicine and have been found to restrict the progression of neurological impairment, although the FDA has not yet approved its utilization. To strengthen drug treatment for FAP, GlaxoSmithKline recently remunerated a sum of US$1 mn to Isis Pharmaceuticals, a U.S.-based company, for advancing the Phase III study of ISIS-TTRRx for the treatment of FAP.

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