It's known as spinal muscular atrophy (SMA) and it's the leading genetic cause of death in babies under the age of two. August is SMA Awareness Month, which is a chance to learn more about this devastating disease that affects nearly one in every 10,000 infants and leads to the inability to walk, eat, and breathe.
SMA is an autosomal recessive genetic disorder; both parents must carry the survival motor neuron 1 (SMN1) genetic mutation. The SMN1 gene produces a protein that enables the nerves to properly control muscles. Without this protein, muscles will eventually weaken and die.
There are four types of SMA based on the age of onset and the milestones these children reach before decline:
Treatment consists of managing the symptoms and requires a multidisciplinary team of healthcare providers, such as neurologists, pulmonologists, physical/occupational therapists, orthopedists, dietitians, and psychologists.
Latest SMA Clinical Research
The first ever therapy for SMA occurred at the end of 2016 with the approval of Ionis/Biogen’s Spinraza (Nusinersen) by both the FDA and EMA. This brings great hope to the SMA community and serves as a testimony to all the patients and families who contributed to the clinical trial process. With around 20 other drugs being developed for the treatment of SMA, this approval is a key milestone in a highly competitive landscape. The multi-system nature of this disease necessitates multidisciplinary medical care and there is hope that more drug approvals are on the horizon for this devastating disease.
Surf Away SMA with Ricochet
In honor of SMA Awareness month, there will be several exciting events including free assisted surfing experiences with Ricochet the SURFice dog and professional surfers in San Diego, CA on August 15, 2017. PRA’s Lisa Dilworth will be there to join in the fun, so be sure to check our Facebook and Instagram accounts to see photos!
This event helps raise awareness about SMA. Kids with SMA get the opportunity to not only surf — but to surf with a dog! Ricochet, a golden retriever, spontaneously jumped on a surfboard in 2009 with a boy who is a quadriplegic. Since then, she’s been providing opportunities to people and organizations around the globe.
Through this unique experience, kids with SMA get a chance to experience the thrill of an invigorating aquatic sport, with the support and comfort of Ricochet, who is trained as a certified therapy dog.
RARE DISEASES NEWSLETTER Volume 10, July 2018
This quarterly publication will keep you up to date on PRA’s Rare Disease Team focus, achievements, and new initiatives.
Cross-Border Enrollment of Rare Disease Patients
Clinical trials in rare diseases present unique challenges unseen in trials for more common conditions. Cross-border enrollment can be key to…