News

A new long-term partnership with Catalent Biologics will allow Zolgensma’s developer AveXis to increase production of the gene therapy and gain access to further technical expertise. Zolgensma was approved by the U.S. Food and Drug Administration (FDA) to treat pre-symptomatic newborns through 2-year-olds with any type…

A renowned Belgian neurologist and spinal muscular atrophy (SMA) expert has become a hero in Poland for helping dozens of Polish patients obtain early access to Biogen’s Spinraza (nusinersen), the first approved treatment for the disease. Poland’s SMA community says Laurent Servais never turns a patient away…

Treating teenagers and adults with oral risdiplam, a potential therapy for spinal muscular atrophy (SMA), led to sustained increases in blood levels of the key SMN protein missing in these patients, the lead investigator for a Phase 2 clinical trial said in an interview. Claudia A. Chiriboga, MD,…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

[Editor’s Note: In the conclusion of this two-part interview with the Lackey family of Arizona about their daughter’s treatment with Zolgensma at 6 weeks old, we look at treatment day, advice they have to make it easier, and the family’s decision to advocate for screening newborns for SMA.] Samantha…

[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…

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…