Fatal familial insomnia (FFI) is a rare, inherited neurodegenerative disorder caused by a mutation in the PRNP gene. Characterized by progressive insomnia, memory loss, and other neurological symptoms, FFI typically leads to death within 9 to 30 months of symptom onset. Currently, there is no cure; treatment focuses on symptom management. Research is ongoing to find effective treatments, including a clinical trial testing the antibiotic doxycycline.
Angelman syndrome, a rare genetic disorder affecting the nervous system, is characterized by developmental delays, seizures, and distinctive facial features. This article explores the causes, symptoms, and available treatments for this condition, offering crucial information for families and healthcare professionals.
Fibrodysplasia ossificans progressiva (FOP), also known as ‘Stone Man’ syndrome, is an incredibly rare genetic disorder causing progressive bone formation in muscles and connective tissues. Learn about its causes, symptoms, treatments, and the recent FDA approval of a groundbreaking new drug.
The Lambert Eaton Myasthenic Syndrome (LEMS) market is projected to experience significant growth in the coming years, driven by rising diagnosis rates, advancements in clinical research, and the emergence of novel therapeutic options. This rare autoimmune disorder affecting the nerve-muscle connection has seen an increase in detection due to improved diagnostic techniques. Moreover, the development of targeted therapies with higher efficacy and fewer side effects is further bolstering market growth.
Ionis Pharmaceuticals’ investigational RNA-targeted therapy zilganersen has received Fast Track designation from the FDA for treating Alexander disease (AxD), an ultra-rare neurological disorder. This designation accelerates the development and review process for drugs addressing serious conditions with unmet medical needs. Zilganersen is the first investigational medicine in clinical development for AxD, which currently lacks any approved therapies. Ionis is also advancing other wholly owned pipeline candidates, including olezarsen for familial chylomicronemia syndrome and donidalorsen for hereditary angioedema, with potential for independent launches.
The Prader-Willi syndrome (PWS) market is anticipated to experience significant growth in the coming years, fueled by rising diagnosis rates and the impending launch of innovative therapies. This rare genetic disorder affects individuals from birth, presenting challenges in areas such as muscle tone, development, and behavior, often leading to obesity if left unmanaged. This report delves into the current treatment landscape, emerging drugs, market dynamics, and future growth projections for the PWS market.
Carolina Arruda, a 27-year-old Brazilian woman suffering from a debilitating and excruciatingly painful condition known as bilateral trigeminal neuralgia, has chosen euthanasia in Switzerland after years of struggling with the condition. She has launched an online fundraiser to cover the costs of the procedure.
A Louisiana mom used TikTok to identify Sanfilippo syndrome in her 20-month-old daughter, leading to an early diagnosis and potential for treatment. The rare genetic condition, sometimes called childhood Alzheimer’s, can lead to severe intellectual decline and motor disease. While there is no cure, early diagnosis allows the family to seek out experimental treatments and raise awareness about the condition.
Biogen Inc (BIIB) reported a mixed set of financial results for the first quarter of 2024. While adjusted EPS beat consensus, sales fell short of expectations. The company’s multiple sclerosis and rare disease revenues declined, but Leqembi sales accelerated, reaching approximately $19 million globally. Biogen maintained its guidance for the fiscal year 2024, with an expected EPS of $15.00-$16.00 and a low- to mid-single-digit percentage decline in total revenue. Analysts noted that the Leqembi launch faced headwinds, and the bottom-line beat was driven by cost-cutting initiatives.
A Belgian man was acquitted of drunk driving charges after it was revealed that he suffers from a rare metabolic condition called auto-brewery syndrome (ABS), which causes his body to turn certain foods into alcohol. Despite being found over the legal limit for alcohol in his blood, the man’s doctors confirmed his condition and emphasized that he had not consumed any alcoholic beverages. The judge in the case ruled that the man did not exhibit symptoms of intoxication when stopped by the police and ordered him to take measures to drive safely, such as controlling his diet or using an interlock device prior to driving.
