Precision mNedicine is the latest craze in rare disease research. Thankfully for patients, it is completely, 100% centered on improving the quality of their care. Unlike most typical healthcare practices,…
Spinal muscular atrophy (SMA) is a genetic condition which affects between 10,000 and 25,000 in the United States. While rare, it is currently the leading genetic cause of infant mortality. But,…
Every day the scientific community makes progress in the study of rare disease. Research in the field has advanced exponentially in recent years and we're starting to see more treatments…
A recent article by NBC News is highlighting a growing concern among parents and professionals alike over the effectiveness of newborn genetic screening. There is a certain place between knowing…
According to a story from physiciansweekly.com, a recent report from the Institute for Clinical and Economic Review (ICER) suggests that, pending more data about overall price and longterm success rates,…
People with spinal muscular atrophy and other rare conditions with either few or no approved treatments have recently had their hope of a cure renewed by the concept of gene therapy. Basically,…
What if you could prevent all of the world's most fatal genetic diseases? According to Lee D. Cooper, there's a way- we're just not educating people on how to do…
According to a story from pm360online.com, the pharmaceutical company Roche recently announced that its investigational therapy risdiplam has awarded PRIME designation from the European Medicines Agency (EMA). The drug has…
Who's in the mood to help grant a young girl her Christmas wish this year?! People who know 10-year-old Paola Vega describe her as a cute, spunky princess who can't…
According to a story from BioPortfolio, the drug developer Novartis recently announced that the US Food and Drug Administration (FDA) has granted the company's investigational gene therapy AVXS-101, also known…
According to a story from the Farmington Daily Times, Dr. C. Frank Bennett, who grew up in Aztec, NM, and his collaborator Dr. Adrian Krainer, were both jointly awarded the…
According to a story from MarketWatch, Annie Wilson was diagnosed with spinal muscular atrophy when she was only six months old. With no real treatment options available, doctors told her…
British Columbia faces excruciating decisions about how and whether to cover drug treatment for rare diseases. One particular drug is Spinraza. It is a drug that is a part of…
According to a story from Roche, the pharmaceutical company recently released new data from its ongoing clinical trial, which is testing the company's investigational product risdiplam. In this study, the…
According to a report by the Canberra Times, a new clinical trial will present free genetic testing to ten thousand people. Each of these people is a potential parent. The…
Biogen Inc. has provided updates on their research into Spinraza® (nusinersen) in infants with spinal muscular atrophy. At the moment, Sprinraza is the only approved treatment for the condition. Data from…
Encouraging interim data has been shared from two studies of risdiplam (RG7916), a drug being researched as a potential treatment for spinal muscular atrophy types 1, 2, and 3. For…
A recent study suggests an alternative procedure for delivering the drug nusinersen to patients being treated for spinal muscular atrophy. Although more research needs to be done to estabilish its…
According to a story from kentlive.news, Lucy Frost of Tumbridge Wells is doing everything she can in an attempt to get the NHS to provide her son with the medication he…
According to the Santa Cruz Sentinel, Josalyn Catarino is an 11-year-old who loves Disneyland, TV romance shows, the ocean, and getting her fingernails painted. This, of course, sounds like any…
Let's take a moment during these dog days of summer to recognize the SMA community during SMA awareness month! Spinal muscular atrophy (SMA) is a rare genetic disorder that causes…
According to a story from cbc.ca, Cole Pringle is a 31-year-old man from Regina, Saskatchewan with spinal muscular atrophy, a debilitating illness that severely affects his mobility. He was diagnosed…
Asher Camp is five years old. His parents, Amanda and Jeremy, had two daughters before Asher. That’s why when Asher progressed differently, they knew to be concerned. After quick action,…
A recent study has found that ‘clock’ genes that help to regulate the body’s circadian rhythm may be affected by spinal muscular atrophy. The original paper, which is published in…
Data from a Phase II clinical trial of the experimental treatment reldesemtiv for the treatment of spinal muscular atrophy has been announced. The drug has shown positive effects in the…
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