Genentech, a member of the Roche Group, today announced that the U.S. Food and Drug Administration (FDA) has accepted the New Drug Application (NDA) and granted Priority Review for risdiplam, an investigational survival motor neuron-2 (SMN-2) splicing modifier for spinal muscular atrophy (SMA). If approved, risdiplam, an orally administered liquid, would be the first at-home […]
Earlier this month, an article was published in the Journal of Neuromuscular Diseases titled, “Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings from the Cure SMA Cohort.” This paper examined the concordance and discordance of SMA sub-type among siblings in order to learn about the family experience of SMA, support the identification of genetic
SMA Concordance Among Siblings Published in the Journal of Neuromuscular Diseases Read More »
Many consider the deepest expression of love is being a caregiver. Providing for someone’s needs is incredibly special and rewarding to the one who is giving, as well as the one receiving. Despite this, the extra demands placed on caregivers can often lead to chronic stress and stress-related disorders. Chronic stress, if left untreated, can
Caring for the Caregiver by Brynne Willis Read More »
Scholar Rock today announced preliminary pharmacokinetic (PK) and pharmacodynamic (PD) results from the TOPAZ Phase 2 proof-of-concept trial of SRK-015 for the treatment of patients with spinal muscular atrophy (SMA). The planned preliminary PK/PD analysis, which includes data from 29 patients with SMA across all three cohorts, showed dose-proportional drug exposure and demonstrated target engagement, as
Fifteen Team Cure SMA runners successfully raised over $45,000 for Cure SMA while running in the 2019 TCS New York City Marathon on November 3, 2019. The all-star team included: David Alexander, Jose Ricardo Alverde, Jillian Ament, Michela Bassano, Sarah Bromley, Amanda Dinan, Emma Fazio, Sarah Fazio, Emily Gross, Christine Guiney, Danielle Joslin, Taline Lahcanski,
Team Cure SMA Raises Over $45,000 in the New York City Marathon Read More »
Genentech, a member of the Roche Group, today announced positive data from the pivotal Part 2 of the SUNFISH study evaluating risdiplam in people aged 2-25 years with Type 2 or 3 spinal muscular atrophy (SMA). The study met its primary endpoint of change from baseline in the Motor Function Measure 32 (MFM-32) scale after
This guest post is written by April Leiffer Henry If you ask 4-year-old Winnie Stanley what she wants to be when she grows up, she’ll say a superhero. But to many people in West Virginia, this sweet, adorable little fighter already is a superhero. Winnie is a preschooler whose favorites are Play-Doh, the color pink,
A Tiny Warrior: Winnie Stanley’s Story Read More »
October has been National Disability Employment Awareness Month, and throughout the month, you have heard stories about adults in the workforce who live with SMA. We are pleased to close out our recognition of this month with a story from Angela Wrigglesworth of Texas. On the first day of each new school year, Angela Wrigglesworth
Community Spotlight: Angela Wrigglesworth Read More »
Dear SMA community, Today, we announced an AVXS-101 intrathecal study update. In the update, we shared that the United States Food & Drug Administration (FDA) placed a partial hold on clinical trials for intrathecal (IT) administration of AVXS-101. This partial hold by the FDA only impacts the IT formulation and does not impact the currently
AveXis Issues Community Statement on AVXS-101 Clinical Hold Read More »
The below statement is a press release from Novartis and AveXis. Novartis today announced the United States Food & Drug Administration (FDA) placed a partial hold on clinical trials for intrathecal administration of AVXS-101. The announcement follows an AveXis communication to health authorities and clinical trial investigators based on findings from a small, AveXis-initiated pre-clinical study in
Novartis Announces AVXS-101 Intrathecal Study Update Read More »
