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May 21, 2019May 21, 2019

#AANAM – Tegsedi Continues to Benefit FAP Patients for up to Two Years

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Tegsedi (inotersen) continues to slow progression of familial amyloid polyneuropathy (FAP) and maintains the same safety profile over two years of treatment, results of an open-label extension study show. ... Read more

May 15, 2019

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been ... Read more

April 23, 2019April 23, 2019

Rare Case of Spinal Canal Narrowing Due to Amyloid Buildup Reported in FAP Patient

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Narrowing of the spinal canal due to a buildup of proteins — transthyretin (TTR) amyloid deposits — was reported in a rare case of familial amyloid polyneuropathy (FAP). The case ... Read more

April 16, 2019April 16, 2019

Age-related Changes in TTR Gene Expression May Explain Disease Differences Within Families, Study Suggests

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Variability in the onset and penetrance of TTR-related amyloidosis (ATTR) among members of the same family may be linked to the expression of different copies of the TTR gene ... Read more

April 12, 2019

Vyndaqel Safe But Generally Ineffective at Delaying FAP Neuropathy in Long Term, Study Suggests

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Long-term treatment with Vyndaqel (tafamidis) is safe and well-tolerated by patients with transthyretin familial amyloid polyneuropathy (TTR-FAP) caused by Val30Met and other mutations, but does not prevent progression of nerve ... Read more

April 2, 2019April 2, 2019

Longer Wait for Liver Transplant Can Worsen FAP Afterward, Study Finds

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Liver transplants can significantly prolong survival in familial amyloid polyneuropathy (FAP) patients, and the longer they must wait for the transplant may mean the disease will worsen after the ... Read more

March 25, 2019March 25, 2019

FAP Patient with Rare Mutation and Advancing Nerve, Heart Damage Treated Ably with Vyndaqel, Case Study Reports

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A 60-year-old man with familial amyloid polyneuropathy (FAP), and quickly progressing nerve damage and heart disease, was found to carry a rare mutation in the TTR gene, a recent ... Read more

March 19, 2019March 19, 2019

Implanting Pacemaker Before Liver Transplant Does Not Lead to Better Outcomes, Study Reveals

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Although most patients with familial amyloid polyneuropathy (FAP) who undergo liver transplant will require a pacemaker, implanting the device before the transplant is not beneficial, according to a new ... Read more

March 15, 2019March 14, 2019

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

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Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of ... Read more

March 12, 2019March 12, 2019

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

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With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed ... Read more

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