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October 2, 2019October 2, 2019

Fabry Disease Patients with Higher Residual GLA Activity Respond Better to Galafold Treatment, Swiss Study Says

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Nearly half of Fabry patients have amenable or responsive mutations to Galafold (migalastat) but show different responses to the therapy, according to a Swiss population study. The study found ... Read more

September 27, 2019September 26, 2019

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

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Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board ... Read more

September 25, 2019September 25, 2019

Heart Cells Grown in Lab Dish May Help in Understanding Fabry’s Cardiac Complications

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Heart cells derived from patients’ stem cells and grown in a lab dish can reveal important clues about the development of heart ailments associated with Fabry disease. The study, ... Read more

September 18, 2019September 18, 2019

First Patient Dosed in Phase 1/2 Trial of Fabry Disease Gene Therapy Candidate FLT190

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The first patient in a Phase 1/2 clinical trial of Fabry disease gene therapy candidate FLT190 has been dosed. Enrollment is ongoing at the Royal Free Hospital, in London, ... Read more

September 4, 2019September 4, 2019

New GLA Mutation Leading to Low Enzyme Activity and Kidney Disease Found in Chinese Patient

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A new mutation in the GLA gene was found in a Chinese patient with Fabry disease that leads to low alpha-galactosidase A (alpha-GAL A) activity and correlates with kidney ... Read more

September 2, 2019August 30, 2019

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

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Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: ... Read more

August 28, 2019

At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing

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Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such ... Read more

August 28, 2019August 28, 2019

Enzyme Testing for Fabry Disease May Be More Cost-Effective Than Genetic Tests, Study Says

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Testing alpha-galactosidase A enzyme activity may be a more cost-effective screening method for diagnosing Fabry disease than genetic tests, a study suggests. Titled “Cost Efficacy of α-Galactosidase A Enzyme ... Read more

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

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