News

Early ERT Key in Severe Classic Infantile Pompe

Early treatment with enzyme replacement therapy (ERT) and immune tolerance induction (ITI) greatly improved clinical outcomes for infants with the severe, frequently ERT-nonresponsive, CRIM-negative infantile Pompe disease (IPD), a study has found. “Our data suggest that the first few weeks after birth…

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

Amicus Updates Data from AT-GAA Phase 3 PROPEL Trial

Treatment with AT-GAA, an investigational therapy for late-onset Pompe disease, led to improvements in measures of physical and lung function in the Phase 3 clinical trial PROPEL, top-line data show. “Data from the PROPEL study demonstrate the potential to further improve motor and respiratory functions in patients with Pompe…

Pandemic Won’t Stop Rare Disease Day on Feb. 28

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

First Patient Dosed in Gene Therapy Trial for LOPD

Spark Therapeutics has dosed the first patient in the Phase 1/2 RESOLUTE clinical trial of SPK-3006, an experimental gene therapy for people with late-onset Pompe disease (LOPD). “Dosing the first participant in the Phase 1/2 RESOLUTE trial of investigational SPK-3006 for late-onset Pompe disease is an important milestone and…

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

NORD’s Caregiver Respite Program Continues Through Pandemic

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…