[Editor’s Note: This is the first of a two-part series on the Lackey family of Arizona, whose daughter Stella became the first baby west of Missouri to be treated outside of a clinical trial with Zolgensma on July 3. Here, the family talks about how their daughter came to be…
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The diagnostics company BillionToOne has launched its first product for commercial and clinical use — a blood test designed to help diagnose hereditary and rare diseases in fetuses. Called UNITY, the test requires only a small sample of the mother’s blood to determine whether the baby will be at high…
The lifetime probability of having a scoliosis surgery is high — around 80% — for young people with SMA type 1c and type 2, a Dutch study shows. It also was high, at 71%, for those with SMA type 3 who lost the ability to walk…
Adding reldesemtiv to survival of motor neuron (SMN) restoration therapies — namely Spinraza (nusinersen) or the investigational SMN-C1 (an analogue to risdiplam) — can improve muscle function in a mouse model of spinal muscular atrophy (SMA), data shows. The findings were presented during the…
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the most determined. At that time, few doctors in the developing country of 2 million — now called North Macedonia — had…
The European label for Spinraza (nusinersen) has been updated to include longer-term benefits seen in pre-symptomatic treatment of spinal muscular atrophy (SMA), as well as in patients with infantile- and later-onset forms of the disease. Overall, the results from four clinical trials show sustained lessening or…
A boy born in January has become North Macedonia’s first child with the most severe form of spinal muscular atrophy to make it through early infancy after he began receiving Spinraza (nusinersen), Biogen’s first approved therapy for all forms of SMA. That’s the word from Denica Velkovska, president of the…
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…
