Regeneron Pharmaceuticals has recently announced the results of Phase 2 of their study of pozelimab, which is an experimental treatment for paroxysmal nocturnal hemoglobinuria. Current therapies for this condition…
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According to the UK’s National Institute for Health Research (NIHR), a new technology called machine perfusion (MP) has the potential to solve organ shortage, a major challenge in liver transplantation.…
Genetic Counselors are an incredible resource – they can help assess your risk of developing a condition, the risk of your children inheriting a condition, and what potential treatment or…
“I feel like I’m in a huge dream that nobody can get into,” Noemie explained, describing her weeks of intensive sleep during which she slept 20 hours a day, the…
I wanted to invite the invisibly disabled community to join the screening of ‘We Are Visible’, my film about people living with an invisible condition (Ehlers-Danlos syndrome) all around the…
Sometimes in moments of tragedy, there is a bright silver lining that helps us learn, and that's exactly what Amber Briggle was aiming to do. Back in October, Amber posted…
No healthcare professional wants to hear that a drug being studied in a clinical trial did not meet the endpoints. It means that after countless hours of hard work,…
The FDA has just provided Orphan Drug Designation to Hizentra for the treatment of adults diagnosed with chronic inflammatory demyelinating polyneuropathy (CIPD). This is a maintenance therapy which works to…
CureDuchenne has launched the CureDuchenne Biobank, a neutral, centralized and self-funded data hub that will unlock information to accelerate research. It will provide a consistent set of resources for scientific…
Marinus Pharmaceuticals has recently announced updates on its ganaxolone programs for tuberous sclerosis complex (TSC), PCDH19-related epilepsy (PCDH19-RE), and CDKL5 deficiency disorder (CDD). Ganaxolone Ganaxolone is a positive allosteric modulator…
An open letter to The Editor from Gaetani et al was recently published in the Orphanet Journal of Rare Diseases. Dr. Gaetani and associates at the Fondazione Policlinico Universitario, Rome Italy,…
David Fajgenbaum was diagnosed with Castleman disease while he was still a medical student. He was perfectly healthy, but in a few days he had organs failing. He was treated…
A new study has been initiated by a digital health company in the United Kingdom called Congenica Ltd. This study focuses on re-annotating genes that may be associated with…
Galectin Therapeutics has recently started to plan the third phase of its clinical trial of belapectin, which treats nonalcoholic steatohepatitis (NASH). They are making refinements based on a conversation…
It is estimated that about 10% of people in the United States have rare diseases. But what makes a disease rare? How does this distinction affect diagnosis and treatment?…
Alpha-1 antitrypsin deficiency (A1AD) shares similarities with asthma, which leads to it often being misdiagnosed as asthma. This misdiagnosis leads to insufficient treatment. Toronto Western Hospital's Asthma and Airways…
Marinus Pharmaceuticals is a pharmaceutical company that works to create treatments for epilepsy and other neuropsychiatric disorders. They are in the process of conducting clinical trials to evaluate the safety…
According to a story from Buzzfeed News, social media giant Facebook has finally taken action against groups on the site that promote the use of black salve, an alternative treatment…
According to a story from Targeted Oncology, the results of a recent clinical trial have left drug developers Kite and Gilead with the confidence to proceed with regulatory approval from…
Karyopharm, a pharmaceutical company based in Newton, Massachusetts, has submitted a New Drug Application to the FDA for their drug XPOVIO, which is meant for the treatment of diffuse large…
Prevail Therapeutics recently submitted an Investigational New Drug application for their gene therapy called PR001. The FDA has recently notified them that this application is active, meaning that Prevail Therapeutics…
January has been designated as a time to bring awareness to alternating hemiplegia of childhood! Alternating hemiplegia of childhood is extremely rare, with about 1 in 1,000,000 reported cases; therefore…
Inventiva has recently completed Phase IIa of their clinical trial of odiparcil, a drug made for the treatment of mucopolysaccharidosis type VI (MPS VI). Iventiva is very excited about the…
Copyscape score: 4% Cancer is a disease that affects different people in different ways, and for some people, no existing treatments can effectively treat their cancer. GlaxoSmithKline has recently released…
Copyscape score: 2% Alnylam has recently completed the third phase of their clinical trial of lumasiran, which was created for the treatment of primary hyperoxaluria type 1 (PH1). While they…
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