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August 21, 2019August 22, 2019

Amicus CEO John Crowley Outlines Progress in Fabry, Pompe, Batten Therapies

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Pharmaceutical executives rarely make for a sympathetic Hollywood medical drama. But John Crowley did, and in the nearly 10 years since the release of “Extraordinary Measures” — a tearjerker starring ... Read more

August 19, 2019August 19, 2019

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

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Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people ... Read more

August 14, 2019August 14, 2019

Dried Blood Drops May Help Screen At-risk Patients Early for Fabry Disease, Study Suggests

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Analysis of dry blood drops may help diagnose Fabry disease and begin early treatment in patients who are experiencing cardiac, renal, or neurological symptoms of unknown cause, according to ... Read more

August 7, 2019August 7, 2019

Galafold Approved to Treat Fabry Teens and Adults in Argentina, Amicus Announces

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Adolescents and adults with Fabry disease who live in Argentina can now be treated with Amicus Therapeutics’ oral precision medicine Galafold (migalastat). The Agency of Medicines, Food and Medical ... Read more

August 2, 2019August 1, 2019

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

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Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage ... Read more

August 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 31, 2019July 31, 2019

FabryScan Screening Tool Shows Promise in Diagnosing Disease

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The screening tool FabryScan — consisting of a physical assessment and a questionnaire — may be useful in diagnosing Fabry disease among people with unclassified pain, according to a ... Read more

July 24, 2019July 24, 2019

Gene Therapy AVR-RD-01 Effectively Prevents Buildup of Toxic Gb3 in Fabry Patients, Interim Data Show

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Avrobio’s investigational gene therapy AVR-RD-01 shows potential in promoting durable beneficial effects to treat Fabry disease, with enhanced therapeutic activity compared with the standard-of-care enzyme replacement therapy, according to ... Read more

July 18, 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 17, 2019July 17, 2019

Sperm Abnormalities in Men With Fabry Disease Don’t Compromise Fertility, Study Says

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Sperm abnormalities in men with Fabry disease do not compromise their fertility or overall reproductive function, a study finds. The findings of the study, “Semen and male genital tract ... Read more

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