News

July 5, 2019July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

News

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although ... Read more

July 3, 2019July 3, 2019

Presymptomatic Spinraza Treatment Leads to SMA Children Reaching Otherwise Unachievable Milestones, Phase 2 Trial Shows

News

Presymptomatic infants treated with Spinraza (nusinersen) are able to hit motor milestones that are otherwise unachievable in the natural progression of their condition, spinal muscular atrophy (SMA), with all ... Read more

July 1, 2019July 1, 2019

RNA Therapy Delivered by Viral Vector May Hold Potential to Treat SMA

News

A new RNA therapy delivered by a safe adeno-associated viral (AAV) vector, like other gene therapies, may be a way to treat spinal muscular atrophy (SMA), a mouse study ... Read more

June 27, 2019June 27, 2019

Screening Tests and Other Steps for Zolgensma’s Use – Here’s Why They’re Necessary

News

Monitoring liver function and immune reactions, being alert to signs of a respiratory infection, and making sure that a child’s vaccination schedule does not interfere with necessary corticosteroid use ... Read more

June 27, 2019June 28, 2019

Children with SMA at Risk of Weak Bones and Fractures, Study Finds

News

Young children with spinal muscular atrophy (SMA) types 2 and 3 are at risk of severe bone fragility and can carry fractures that go unnoticed, a study found. The ... Read more

June 26, 2019June 26, 2019

AveXis’ OneGene Program to Smooth the Path for Families Wanting Zolgensma

News

More than 90% of rare diseases have no federally sanctioned treatment. So when news came of an approved new therapy for spinal muscular atrophy (SMA), Zolgensma, celebrations abounded. But as is often the case, ... Read more

June 26, 2019June 25, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

News

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials ... Read more

June 24, 2019June 24, 2019

Anti-epileptic Keppra Could Be Candidate for Treatment of SMA, Study Finds

News

The anti-epileptic medicine Keppra (levetiracetam) may have a neuroprotective effect for spinal muscular atrophy (SMA), according to a recent study. The study, “The Protective Effects of Levetiracetam on a Human iPSCs‑Derived Spinal ... Read more

June 21, 2019June 27, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

News

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, ... Read more

June 21, 2019June 21, 2019

Small RNA Molecule miR-23a May Have Therapeutic Role in SMA, Study Says

News

A small RNA molecule called miR-23a can prevent neuron degeneration and muscle wasting by acting as a protective modifier in cellular and animal models of spinal muscular atrophy (SMA), ... Read more

Pin It on Pinterest