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 she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
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 treated children able to sit without support and most to walk unassisted in a normal timeframe, according to…
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 shows. The therapy, called ExspeU1, showed the ability to raise the levels of survival motor neuron (SMN) protein in multiple…
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 are among the key health and safety requirements for families and doctors interested in using Zolgensma to treat a young spinal muscular…
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 results, “Evolution of bone mineral density, bone metabolism and…
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, questions soon followed: Where is the medicine available? How do we deal with insurance companies?…
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 of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
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 Muscular Atrophy Model,” was published in the journal Neurochemical Research. Spinal muscular atrophy (SMA) is characterized…
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, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
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), a study says. The study, “AAV9-Mediated Delivery of miR-23a Reduces Disease Severity in Smn2B-/SMA Model Mice,” was published in…
