Researchers have known, for a while, that a variety of gene mutations contribute to different subtypes of Charcot-Marie-Tooth disease. The specific condition is dependent on which gene is mutated. But…
Between August 29 and September 1, researchers joined in at ESC 2020 - The Digital Experience, developed and organized by the European Society of Cardiology (ESC). During this online conference,…
To determine the safety and efficacy of experimental gene therapy ST-920, researchers first examined the impact of the drug on mouse models of Fabry disease. As reported in Fabry Disease…
Early this week, biopharmaceutical company Avidity Biosciences announced its inclusion into a collaborative natural history study on myotonic dystrophy type 1 (DM1). The study, END-DM1, is run by the Myotonic…
In recent years, gene therapy has expanded to enormous heights. This experimental technique allows scientists to add, delete, edit, or otherwise use genes to address genetic malfunctions and disorders. Now,…
Recently, biopharmaceutical company Fortress Biotech announced positive clinical results for CUTX-101 (copper histidinate). The data highlights the efficacy of CUTX-101 for patients with Menkes disease. As there are currently no…
On August 31, 2020, biopharmaceutical company Omeros Corporation announced that it will soon move forward with clinical trials for OMS906. This decision follows clearance of an Investigational New Drug Application…
Earlier this week, Sarepta Therapeutics announced that the FDA approved a New Drug Application (NDA) for Casimersen (SRP-4045). The treatment, for patients with exon 45 amenable Duchenne muscular dystrophy (DMD),…
When Jessica Kalnas was growing up, her mother Judy thought her daughter was just clumsy. The youngest of six kids, Jessica was always falling over: off of her bike,…
Recently, biopharmaceutical company Vanda Pharmaceuticals announced that the FDA granted priority review status for a New Drug Application (NDA) and Supplemental New Drug Application (sNDA) for both liquid and…
According to a recent press release, EspeRare received Breakthrough Therapy Designation for its investigational therapy ER-004, designed for the prenatal treatment of X-linked hypohidrotic ectodermal dysplasia (XLHED). Ultimately, this…
According to a recent press release, biotechnology company Cancer Prevention Pharmaceuticals (CPP) submit a New Drug Application (NDA) for accelerated approval of their drug therapy CPP-1X/sul to treat familial adenomatous…
Without treatment, spinal muscular atrophy (SMA) is the top cause of infant or child mortality before age 2. As a result, early detection is crucial in improving patient outcomes. But…
Recently, a team of Yale researchers wanted to understand how genetic mutations in patients with Rett syndrome resulted in neurological issues. Using a unique type of genetic testing, researchers were…
In the past, there have been few effective treatments for patients with primary hyperoxaluria type 1 (PH1), a genetic disorder causing kidney damage and failure. But, according to News Medical,…
In Spain, a young child showed signs of muscle atrophy and difficulty walking; she wasn't quite stable on her feet and struggled with balance and coordination. But it wasn't until…
According to MIT News, scientists recently discovered that inhibiting levels of the GSK3 alpha enzyme could reduce, or even reverse, symptoms of fragile X syndrome. Their study, which utilized mouse…
In a time of instability, health crises, and stigma, screenwriter Christian Hadjipateras advocates for a positive change. With nearly 5.69 million diagnosed cases of COVID-19, Christian notes that there…
A seemingly healthy baby was born in China. But as she grew up, her family started noticing that their daughter wasn't hitting motor milestones. She didn't start walking until she…
It's official: May is Cystic Fibrosis Awareness Month! So myself, and the Patient Worthy team, are excited to bring you some stories to help build your awareness and increase patient…
Epidermolysis Bullosa, or EB, is a connective tissue disorder that approximately 200 babies are born with each year. The most serious symptom is the extreme fragility of skin. People with EB suffer…
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