Researchers at The Ottawa Hospital in Canada have received $150,000 from Cure SMA to develop new ways of monitoring spinal muscular atrophy (SMA) using a noninvasive blood test. The team, led by Robin Parks, PhD, intends to use tiny bits of cells called exosomes to develop ways of tracking SMA progression and how patients respond to treatment. Parks is a senior scientist in the regenerative medicine program at Ottawa Hospital Research Institute and the director of PhD research in the department of medicine at The Ottawa Hospital, as well as a professor at the University of Ottawa. SMA occurs in about 1 in 10,000 live births and is considered the most common cause of death by a genetic disease in newborns. It's caused by a deficiency of a protein known as the SMN protein. Several experimental therapies are currently under investigation for the treatment of SMA. And Spinraza (nusinersen), a medication that acts by increasing the body's ability to produce SMN proteins, has already been approved by the United States Food and Drug Administration, Health Canada, and the European Union for the disease. Research suggests that the earlier a treatment is delivered, the more effective it will be. However, there is not yet a test that can measure how a patient is responding to these therapies, a particularly difficult task in young babies, which Parks and his team are hoping to address. Exosomes are small vesicles (about 30-100 nanometers in diameter) released by cells, which can serve several purposes, including cell-to-cell communication. Since exosomes can spread and distribute various molecules among cells, they have been implicated in the development of diseases, including SMA. A previous study by Parks' team, published in Scientific Reports, revealed that the levels of SMN proteins in exosomes found in the blood were lower in both an SMA mouse model and an SMA type 3 patient, compared with healthy controls. Results of this study indicate that SMN levels in exosomes could be used as a biomarker for SMA progression. The new research, which builds on this previous work, will be conducted in collaboration with Children's Hospital of Eastern Ontario (CHEO) and the University of Missouri.
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More than $1.57 million in funding, recently awarded to the Canadian Institut National de la Recherche Scientifique (INRS), will go toward new research facilities, including one to study motor neuron diseases like spinal muscular atrophy (SMA). The award, given by the Canada Foundation for Innovation’s John R.
At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…
The first patient has been dosed in the Phase 3 clinical trial of AveXis’ gene therapy candidate AVXS-101 in presymptomatic infants with spinal muscular atrophy (SMA) types 1, 2 and 3, the company announced. SPR1NT (NCT03505099) is an open-label, global study evaluating a one-time, intravenous AVXS-101 treatment in…
A potential oral treatment for children with type 1 spinal muscular atrophy (SMA) called RG7916 was able to safely raise levels of the crucial SMN protein that is lacking in these patients, early results of a two-part clinical trial show. Data from the study, “RG7916 significantly increases SMN Protein in…
Long-term treatment with Spinraza (nusinersen) is safe and continues to promote better motor skills and respiratory function in children with spinal muscular atrophy (SMA), according to interim results from a Phase 3 clinical trial. This early data — from the open-label SHINE study — were in the presentation “Longer-term…
It’s not every day a Southeast Asian monarchy bestows a $100,000 prize on a U.S. government research agency. In fact, it rarely happens. But this year is different. Thailand’s Prince Mahidol Award Foundation has chosen the National Human Genome Research Institute — a division of the National Institutes of Health (NIH) —…
Type 1 spinal muscular atrophy (SMA) babies treated with AveXis’ gene therapy candidate AVXS-101 continue to achieve unprecedented motor milestones and do not require breathing or nutritional support, according to recent data from the company. AveXis presented updated results from Phase 3 and Phase 1 trials…
A working group led by Cure SMA, and comprising 15 experts on spinal muscular atrophy (SMA), has developed new guidelines to help clinicians and caregivers decide when to administer therapy to infants with the disease. These come as a response to the recent recommendation by the Advisory Committee on…
Spinraza (nusinersen) improves motor and respiratory function in children with spinal muscular atrophy (SMA), according to results from different trials. Biogen will present the data at the American Academy of Neurology annual meeting, taking place April 21-27 in Los Angeles. SMA is a neurodegenerative disease caused by mutations in the SMN1 gene, which provides…
