News

March 15, 2019March 14, 2019

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

News

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 13, 2019March 13, 2019

Rare Childhood Disorders Pose Significant Impact on Quality of Life of Children and Parents, Study Reports

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Rare childhood disorders, including Pompe disease, pose a significant estimated impact on the quality of life of affected children and their parents, a study reports. The study, “Health utilities and ... Read more

March 13, 2019March 13, 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

March 6, 2019March 6, 2019

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

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Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known ... Read more

February 26, 2019February 26, 2019

Amicus’ AT-GAA Gets FDA’s Breakthrough Therapy Designation

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The U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation (BTD) to Amicus Therapeutics’ lead therapy candidate for the treatment of late-onset Pompe disease, AT-GAA (ATB200/AT221). The FDA’s decision ... Read more

February 26, 2019February 26, 2019

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April

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The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have ... Read more

February 20, 2019

Vienna to Host RARE2019 Meeting on Rare Diseases

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About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The ... Read more

February 20, 2019February 20, 2019

Late-onset Pompe Patient Gave Birth Twice to Healthy Infants While on Lumizyme, Case Study Reports

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A woman with late-onset Pompe disease went through two successful pregnancies and births while continuing treatment with Lumizyme (alglucosidase alfa), a case study reports. The woman, however, chose not ... Read more

February 13, 2019February 13, 2019

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

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Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run ... Read more

February 6, 2019February 6, 2019

Phase 1/2 Trial Investigating ACTUS-101 Gene Therapy for Pompe Disease Doses First Patient

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The first patient has been dosed in a Phase 1/2 clinical trial evaluating the safety and effects of ACTUS-101, a potential one-time gene therapy for late-onset Pompe disease developed ... Read more

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