Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
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Screening newborns for genetic diseases for which treatments exist that can prevent crippling or deadly progression, especially for rare disorders like spinal muscular atrophy, has a way to go in the United States. Only seven states require this disease to be among the dozens tested from a blood sample…
When she was born in London on Sept. 9, 2018, Tora Patgiri showed no signs of the spinal muscular atrophy (SMA) type 2 she would be officially diagnosed with some eight months later in Ohio. The baby ate well, waved her arms easily, and grasped objects at will. Until a…
Clinicians have described the case of an Iranian teenager with a rare type of spinal muscular atrophy (SMA) associated with progressive myoclonic epilepsy (PME). The case report study, “A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran,” was published in the…
The European Medicines Agency (EMA) has granted orphan medicinal product designation to reldesemtiv, a potential add-on therapy for patients with spinal muscular atrophy (SMA). Reldesemtiv, developed by Cytokinetics and Astellas, is meant to complement existing SMA treatments. It is a fast skeletal muscle troponin activator…
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…
