News

August 1, 2019August 1, 2019

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

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Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state ... Read more

July 29, 2019July 29, 2019

Firdapse Oral Therapy Expected to Become LEMS’ Treatment of Choice, Review Says

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Scientists believe Firdapse (amifampridine phosphate) will soon become first-line management therapy for Lambert-Eaton myasthenic syndrome (LEMS), due to its stability, low-dose variability, good tolerability, and effectiveness, a review says. ... Read more

July 19, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of ... Read more

July 16, 2019July 16, 2019

Merkel Cell Carcinoma Should Be Considered in Differential Diagnosis of LEMS Patients, Report Suggests

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Merkel cell carcinoma (MCC) should be included in the differential diagnosis of patients with Lambert-Eaton myasthenic syndrome (LEMS) who do not have lung cancer, a case report says. The ... Read more

July 8, 2019July 8, 2019

Triple-Timed Up-and-Go Test Effective in Assessing LEMS Severity, Trial Analysis Shows

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The Triple-Timed Up-and-Go (3TUG) test is a rapid, non-invasive, reliable, and reproducible measurement for assessing muscle weakness in people with Lambert-Eaton myasthenic syndrome (LEMS), analysis of the Phase 2 ... Read more

July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

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It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although ... Read more

July 1, 2019July 1, 2019

Autoantibodies Against GRP78 May Underlie PCD in LEMS, Study Suggests

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Autoantibodies against the GRP78 protein could explain why some Lambert-Eaton myasthenic syndrome (LEMS) patients develop paraneoplastic cerebellar degeneration (PCD), a study suggests. The GRP78-targeting autoantibodies may disrupt the blood-brain barrier ... Read more

June 26, 2019June 26, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials ... Read more

June 20, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, ... Read more

June 17, 2019

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

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People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most ... Read more

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