News

October 22, 2020October 23, 2020

Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say

News, syndicated

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a ... Read more

October 20, 2020October 20, 2020

UK Approves Phase 1 Trial of Potential Gene Editing Therapy, NTLA-2001

News

A Phase 1 trial of NTLA-2001, a potential gene editing therapy for familial amyloid polyneuropathy (FAP), was approved to open by the United Kingdom’s Medicines and Healthcare products Regulatory Agency (MHRA). Intellia ... Read more

October 13, 2020October 13, 2020

After Promising Early Data on Gene Editing, Intellia Will Launch ATTR Trial This Year

News

A single dose of NTLA-2001, Intellia Therapeutics’ investigational gene editing therapy for transthyretin amyloidosis (ATTR), results in a sustained reduction in the levels of the damaging transthyretin (TTR) protein ... Read more

October 6, 2020October 6, 2020

Same But Different Asks Public to Vote on ‘Glimmer of Hope’ Calendar Photos

News, syndicated

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare ... Read more

September 29, 2020September 30, 2020

Blood NfL Levels May Be Useful Marker of Polyneuropathy and Its Severity

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Blood levels of neurofilament light chain (NfL) — a protein commonly used as a marker of nerve cell death in neurodegenerative disorders — associate with the severity of peripheral ... Read more

September 22, 2020September 22, 2020

Trial Data Provide Proof-of-concept for CRX-1008 as Leptomeningeal FAP Treatment

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CRX-1008, an investigational therapy also known as SOM0226 or tolcapone, is safe and well-tolerated by patients as a treatment for familial amyloid polyneuropathy (FAP), and can stabilize the TTR protein ... Read more

September 15, 2020September 15, 2020

Actin Protein Alterations May Underlie TTR-induced Neurodegeneration

News

The characteristic toxic buildup of mutant transthyretin (TTR) protein clumps in familial amyloid polyneuropathy (FAP) affects the development of nerve cell fibers by interacting with regulators of a protein ... Read more

September 8, 2020September 8, 2020

Alnylam Announces Potential New Biannual Dosing Regimen for Vutrisiran

News

Alnylam Pharmaceuticals announced a potential new biannual dosing regimen for vutrisiran, its investigational treatment for familial amyloid polyneuropathy (FAP) and other forms of ATTR amyloidosis. In its “RNAi Roundtable” webinar, ... Read more

September 2, 2020September 2, 2020

Same But Different Photo Contest Celebrates People With Rare Diseases

News, syndicated

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme ... Read more

September 1, 2020September 1, 2020

Vyndaqel Remains Safe After 3 Years of Treatment, Analysis Shows

News

Vyndaqel (tafamidis meglumine) remains safe after more than three years of treatment in patients with familial amyloid polyneuropathy (FAP), with no new safety concerns raised, according to an early ... Read more

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