News

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 ... 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 ... Read more

November 11, 2020November 11, 2020

Eye Movement Condition Nystagmus May Be Feature of Infantile Pompe, Report Shows

News

Nystagmus, a condition in which the eyes move rapidly and uncontrollably, may be a feature of infantile-onset Pompe disease, a new case report suggests. The report, “Nystagmus in Infantile ... Read more

November 5, 2020November 6, 2020

NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits

News, syndicated

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit ... Read more

November 4, 2020November 4, 2020

Whole-body MRI Finds Early Muscle Deterioration in Pompe Children, Study Shows

News

Whole-body MRI found that a muscle in the shin is affected early on in children with either infantile or late-onset Pompe disease, a study shows. Such findings suggest earlier ... Read more

October 28, 2020October 28, 2020

Bayer Acquires AskBio and its Gene Therapy Program for Pompe Disease

News

Bayer reached an agreement to acquire Asklepios BioPharmaceutical (AskBio), including its clinical program of ACT-101, an experimental one-time gene therapy for late-onset Pompe disease. AskBio, which will remain an independent ... Read more

October 26, 2020October 28, 2020

UK Organization ‘Same But Different’ Announces ‘Glimmer of Hope’ Photo Contest Winner

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A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar ... Read more

October 21, 2020October 21, 2020

Novel Mouse Model of Pompe Shows Potential of New Gene Therapy

News

Scientists have created a new mouse model of Pompe disease that displays the severe respiratory impairments experienced by many patients but were never observed in other animal models of ... Read more

October 19, 2020October 19, 2020

Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say

News, syndicated

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a ... Read more

October 14, 2020October 14, 2020

Limb Muscle Weakness Arises With Myozyme Use Over Time, Study Finds

News

Children with classic infantile Pompe disease treated for years with Myozyme (alglucosidase alfa, marketed as Lumizyme in the U.S) exhibit muscle weakness in their lower legs, feet, and hands in addition to ... Read more