Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) — launched…
Shift Pharmaceuticals said its investigational lead therapy E1v1.11 has been granted orphan drug designation by the U.S. Food and Drug Administration (FDA) as a potential treatment option for spinal muscular atrophy (SMA). SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene, which leads to…
As newborn screening for spinal muscular atrophy (SMA) becomes more common, ethical dilemmas will arise about the best treatment strategy for individuals with four copies of the SMN2 gene, a new study contends. The study, “Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn…
A specific chemical modification of antisense oligonucleotides (ASOs) — called MOE; used in Spinraza (nusinersen) — was more effective than another commonly used modification — called PMO — in improving survival and motor neuron preservation in a mouse model of severe spinal muscular atrophy (SMA). These findings…
Palliative care for babies with spinal muscular atrophy (SMA) type 1 has improved in recent decades, with greater involvement of dedicated pediatric medical teams, a new French study suggests. As more treatments become available, ethical questions about the appropriate level of care will need to be addressed, researchers…
Surgery to treat scoliosis may permanently limit the ability of children with spinal muscle atrophy (SMA) type 2 and 3 to perform certain movements, with patients in better physical shape before such procedures experiencing a greater loss of motor skills afterward, a study found.
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…
Finding biomarkers that capture neuroinflammation is critical to the continued use of gene therapies carried on an adeno-associated virus (AAV) as a transport agent, according to a recent review. AAV-based gene therapies are of growing importance to  treating neurodegenerative and neuromuscular disorders like spinal muscular atrophy (SMA).
Preforming an imaging scan that uses less radiation can be used to plan the administration of Spinraza (nusinersen) in people with spinal muscular atrophy (SMA), without sacrificing confidence in treatment planning, a study shows. The study, “Radiation dose reduction for CT-guided intrathecal nusinersen administration in adult…
In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…
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