All articles tagged with #sma
Originally Published 3 days ago — by BBC
Jesy Nelson, a former Little Mix star, shared her personal experience living with SMA, a rare genetic muscle-weakening disease, and discussed her daughters' recent diagnosis with SMA type one. Despite medical predictions of a short life, she has lived to 25, using treatments like Risdiplam and living independently, highlighting advances in SMA care and the importance of routine screening.
Originally Published 9 days ago — by BBC
Jesy Nelson revealed that her twin daughters have been diagnosed with Spinal Muscular Atrophy (SMA), a severe genetic disease that affects muscle strength and may prevent them from walking or surviving past age two, but she remains hopeful with treatment and aims to raise awareness for early diagnosis.
Originally Published 1 month ago — by BBC
Parents of children with SMA advocate for universal newborn screening to enable early diagnosis and treatment, highlighting the stark difference in outcomes between their children who were tested early and those who were not, with the UK considering expanding screening programs amid promising new treatments.
Originally Published 3 months ago — by Scholar Rock
The FDA issued a Complete Response Letter for Scholar Rock's apitegromab BLA due to manufacturing observations at a third-party facility, but no other approval issues were cited. Scholar Rock plans to resubmit after remediation of the manufacturing concerns, maintaining optimism about the drug's potential to treat SMA.
Originally Published 2 years ago — by Daily Mail
Sisters Maisie and Amelia, born with spinal muscular atrophy (SMA), have had different outcomes due to the timing of their treatments. Maisie, diagnosed at two months, has improved with drugs like Spinraza and Zolgensma but may never walk unaided. Amelia, treated from birth, is expected to live a normal life. The UK has approved a new SMA drug, Evrysdi, for newborns, and campaigners are urging for routine NHS screening to ensure early treatment, which can be life-changing. Despite the availability of effective treatments, the lack of a screening program means many children may not receive timely care.