I feel the coolness of the glass against my forehead. The shower is pelting warmth against my skin, but the water doesn’t feel very soothing today. I am tense as I block out thoughts of banging my head against the glass shower door. I know this sounds absurd, but today…
hATTR-PN
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
Three recently approved therapies for treating familial amyloid polyneuropathy (FAP), also known as hereditary transthyretin amyloidosis with polyneuropathy, have won their developers Best Biotechnology Product honors in the 2020 Prix Galien USA Awards, the Galien Foundation announced. Ionis Pharmaceuticals and its subsidiary Akcea Therapeutics claimed the…
“I love you. If anything happens to me, you know where I keep the account details.” My husband uttered these parting words as I dropped him off for admittance into the hospital in April. His severe fluid retention had caused his feet and abdomen to balloon up while his…
Health Insights
Recreational Therapy for FAP
Having a chronic progressive disorder such as familial amyloid polyneuropathy (FAP) can be both stressful and isolating. Â Recreational therapy is a form of treatment that may provide both physical and social benefits to people with FAP. What is FAP? FAP is a rare genetic disorder characterized by progressive damage…
Health Insights
First ATTR Patient Dosed in Phase 1 Trial of Intellia’s Gene-editing Therapy NTLA-2001
The first patient has been dosed in a Phase 1 clinical trial evaluating NTLA-2001, Intellia Therapeutics’ investigational gene-editing therapy for the treatment of hereditary transthyretin amyloidosis with polyneuropathy (ATTR-PN), also known as familial amyloid polyneuropathy (FAP). The trial (NCT04601051) is recruiting at a site…
A liver, donated by a patient with familial amyloid polyneuropathy (FAP) caused by a Ser50Arg mutation in the transthyretin (TTR) gene, caused amyloidosis in the transplant recipient, underscoring the importance of closely monitoring patients who receive FAP livers in transplants. This is an unusual scenario, researchers said in a case…
News
FAP Patients Might Have New Treatment Before Year’s End, as Trial Data Show Patisiran’s Benefits
Patients with hereditary ATTR amyloidosis, also called familial amyloid polyneuropathy (FAP), might soon have a new medication to look forward to, as data from a recent Phase 3 trial of patisiran showed the treatment improved quality of life and reduced the impairment caused by nerve damage. Alnylam Pharmaceuticals and…
A new study outlines the design and rationale for APOLLO, a Phase 3 clinical trial (NCT02510261) to evaluate the effect of patisiran (ALN-TTR02) in patients with hATTR (hereditary ATTR) amyloidosis with polyneuropathy. The study, “Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in…
News
Imaging Is as Good as Tissue Sampling at Detecting Amyloid Deposits in Some Organs, Study Finds
Body-wide imaging can detect amyloid protein deposits in the organs of people with familial amyloid polyneuropathy (FAP), making it possible to assess the effects of new therapies without performing invasive tissue biopsies, a Japanese study reports. Imaging can also be used to see whether drugs that remove amyloid build-ups…
Recent Posts
- A look at the emotional and psychological effects of diagnosis
- ATTR amyloidosis cases on the rise in the US as diagnostics improve
- Nerve ultrasound able to spot silent damage in hATTR, study finds
- Heart rhythm problems common in adults with FAP-causing mutation
- The emotional burden of receiving negative genetic test results