News

January 12, 2021January 13, 2021

NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum

News, syndicated

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient ... Read more

January 7, 2021January 7, 2021

Repurposed Deferoxamine Found to Counteract Effects of LOPD Gene Variant

News

Deferoxamine, a medication normally used to remove excess iron and aluminum from the body, can counteract the effects of a disease-causing genetic variant often found in people with late-onset Pompe ... Read more

December 16, 2020December 16, 2020

Patient-reported Outcomes Capture Disease Severity in Late-onset Pompe, Study Finds

News

Patient-reported outcomes — particularly those related to general physical and arm function — effectively reflect disease severity in people with late-onset Pompe disease as assessed with validated clinical measures, a ... Read more

December 9, 2020December 9, 2020

Computer Simulations Could Help Design Gene Therapies for Pompe, Study Suggests

News

A CRISPR gene-editing approach was used to correct two distinct Pompe disease mutations and to develop computer simulations for optimizing gene therapies. These computer models may help scientists develop and ... Read more

December 3, 2020December 3, 2020

NORD Push for Rare Disease Advisory Councils Focus of Dec. 16 Public Meeting

News, syndicated

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) ... Read more

December 2, 2020December 2, 2020

Amicus Begins Rolling FDA Submission to Advance AT-GAA Therapy for LOPD

News

Amicus Therapeutics is seeking U.S. approval of AT-GAA, its investigational therapy for late-onset Pompe disease. The company has begun a rolling submission of a biologics license application (BLA) to the U.S. Food and Drug Administration ... Read more

November 26, 2020November 26, 2020

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

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The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a ... Read more

November 25, 2020November 25, 2020

Avalglucosidase Alfa, Next-gen ERT for Pompe, Under FDA Priority Review

News

Sanofi Genzyme‘s application requesting the approval of avalglucosidase alfa, an investigational enzyme replacement therapy (ERT) for Pompe disease, was accepted and place under priority review by the U.S. Food and Drug Administration (FDA). An agency decision ... Read more

November 19, 2020November 19, 2020

Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry

News, syndicated

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how ... Read more

November 18, 2020November 18, 2020

AVR-RD-03 Gene Therapy Reduces Toxic Glycogen Buildup in Pompe Mouse Model

News

AVR-RD-03, Avrobio‘s investigational gene therapy for classic infantile-onset Pompe disease, was found to reduce toxic glycogen accumulations to healthy levels in a mouse model of Pompe. These results, presented during an ... Read more