Breakthrough Prizes Recognize Aneuploidy Researcher, Biochemist
This year's winners also include the developers of nusinersen, an oligonucleotide therapeutic for spinal muscular atrophy. (Source: The Scientist)
Source: The Scientist - October 18, 2018 Category: Science Tags: News & Opinion Source Type: news

URMC Joins Network Dedicated to Improving Care for Spinal Muscular Atrophy
The University of Rochester Medical Center has been selected as one of the first four institutions in the U.S. to participate in the SMA Care Center Network. The network is being created as new treatments and approaches to care are transforming how spinal muscular atrophy is treated. (Source: University of Rochester Medical Center Press Releases)
Source: University of Rochester Medical Center Press Releases - October 15, 2018 Category: Universities & Medical Training Authors: University of Rochester Medical Center Source Type: news

Roche announces new data for risdiplam in Spinal Muscular Atrophy (SMA) at the World Muscle Society Congress
Roche today announced interim clinical data from the dose-finding parts of the pivotal FIREFISH and SUNFISH studies investigating risdiplam (RG7916) in SMA. (Source: Roche Investor Update)
Source: Roche Investor Update - October 3, 2018 Category: Pharmaceuticals Source Type: news

Roche announces new data for risdiplam in Spinal Muscular Atrophy (SMA) at the World Muscle Society Congress
Roche today announced interim clinical data from the dose-finding parts of the pivotal FIREFISH and SUNFISH studies investigating risdiplam (RG7916) in SMA. (Source: Roche Media News)
Source: Roche Media News - October 3, 2018 Category: Pharmaceuticals Source Type: news

New Delivery System for Nusinersen Safe in SMA New Delivery System for Nusinersen Safe in SMA
A new subcutaneous intrathecal catheter system may be a safe and relatively well-tolerated alternative to lumbar puncture for delivering nusinersen to adults and children with spinal muscular atrophy.Medscape Medical News (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - September 25, 2018 Category: Consumer Health News Tags: Pediatrics News Source Type: news

Insuring patient access and affordability for treatments for rare and ultra-rare diseases
(American College of Medical Genetics and Genomics) The last decade has seen tremendous progress in the development of new drugs for patients with genetic disorders, including Cystic Fibrosis, many lysosomal storage disorders (Gaucher disease, Fabry disease and others) and most recently, Duchenne Muscular Dystrophy and Spinal Muscular Atrophy (SMA). The American College of Medical Genetics and Genomics (ACMG) is concerned with the staggering projected cost of these new treatments. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 7, 2018 Category: International Medicine & Public Health Source Type: news

Researchers correlate spinal muscular atrophy disease expression with haplotypes
(Clinic for Special Children) A natural history study has provided the first comprehensive clinical description of spinal muscular atrophy (SMA) within the Amish and Mennonite communities and correlates ancestral chromosome 5 haplotypes and SMN2 copy number with disease severity. SMA is a devastating genetic disease that affects the motor neurons that control movement, eating, and breathing. The observations were conducted within a population-specific framework to elucidate subtle differences in disease expression and the subsequent impact of disease-modifying therapies administered early in life. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 6, 2018 Category: International Medicine & Public Health Source Type: news

Hospital costs high in children with spinal muscular atrophy  1
(Source: PharmacoEconomics and Outcomes News)
Source: PharmacoEconomics and Outcomes News - September 1, 2018 Category: Drugs & Pharmacology Source Type: news

Nusinersen (Spinraza) for Spinal Muscular Atrophy May Help Older Children: Study
WEDNESDAY, Aug. 29, 2018 -- A drug used to treat a rare and deadly muscle-wasting disease in children still improves muscle control even if treatment begins at a later age, a new study found. Spinal muscular atrophy (SMA) is a leading genetic cause... (Source: Drugs.com - Daily MedNews)
Source: Drugs.com - Daily MedNews - August 29, 2018 Category: General Medicine Source Type: news

New nusinersen drug delivery method identified for spinal muscular atrophy patients
(Clinic for Special Children) A new report has identified an alternative method to deliver nusinersen to patients with spinal muscular atrophy (SMA) using a subcutaneous intrathecal catheter system (SIC) configured by connecting an intrathecal catheter to an implantable infusion port. SMA is a devastating genetic disease that leads to progressive degeneration of motor neurons that control movement, swallowing, and breathing. It is the leading genetic cause of infant death worldwide. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 24, 2018 Category: International Medicine & Public Health Source Type: news

NICE welcomes further discussions about spinal muscular atrophy drug
NICE hopes for further talks over nusinersen for treating a rare genetic disorder; spinal muscular atrophy (SMA). (Source: NHS Networks)
Source: NHS Networks - August 14, 2018 Category: UK Health Source Type: news

Dr. Jekyll, Mr. Hyde: Study reveals healing mesenchymal cells morph and destroy muscles in models of spinal cord injury, ALS and spinal muscular atrophy
(Sanford Burnham Prebys Medical Discovery Institute) Scientists at Sanford Burnham Prebys Medical Discovery Institute (SBP), in collaboration with the Fondazione Santa Lucia IRCCS in Rome, have discovered a new disease-specific role in FAP cells in the development of muscle tissue wasting, indicating a potential new avenue for treating motor neuron diseases including spinal cord injury, ALS and spinal muscular atrophy. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - July 26, 2018 Category: Biology Source Type: news

KC startup lands funding to research treatment of rare infant disease
A Kansas City-based pharmaceutical startup landed $3 million in funding to study a treatment for spinal muscular atrophy.   A rare genetic disease, spinal muscular atrophy, leads to weak muscles, trouble breathing and swallowing. Infants diagnosed with SMA type I, the most severe and most common form of the disease, can't lift their heads. Nearly 80 percent don't live to age 2. "It's terrible," Shift Pharmaceutical s CEO Steve O'Connor told the Kansas City Business Journal. "Basically, these kids… (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - July 24, 2018 Category: American Health Authors: Elise Reuter Source Type: news

KC startup lands funding to research treatment of rare infant disease
A Kansas City-based pharmaceutical startup landed $3 million in funding to study a treatment for spinal muscular atrophy.   A rare genetic disease, spinal muscular atrophy, leads to weak muscles, trouble breathing and swallowing. Infants diagnosed with SMA type I, the most severe and most common form of the disease, can't lift their heads. Nearly 80 percent don't live to age 2. "It's terrible," Shift Pharmaceutical s CEO Steve O'Connor told the Kansas City Business Journal. "Basically, these kids… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - July 24, 2018 Category: Biotechnology Authors: Elise Reuter Source Type: news