The Global Genes RARE Patient Advocacy Summit September 21-23, 2020 This conference will be a convergence of a variety of rare disease stakeholders, such as rare disease patients, world renowned…
The World Orphan Drug Conference USA 2020 The Global Orphan Drug Conference and Expo August 24th - August 26th, 2o20 in National Harbor, MD The conference is an event that…
The 2020 Living Rare, Living Stronger NORD Patient and Family Forum July 18-20, 2020 Cleveland, OH This yearly conference for patients, their families, and researchers features a comprehensive content program…
By Lauren Taylor from In The Cloud Copy Biogen announced new data from the NURTURE trial of pre-symptomatic patients with spinal muscular atrophy (SMA). SMA is a rare, autosomal recessive…
According to a story from keloland.com, Westin Cuka, age six, was first diagnosed with neurofibromatosis, a rare disorder, three years ago. Since then, the family has traveled on multiple occasions…
Rare pediatric disease designation has just been granted to Rhythm Pharmaceuticals for their investigative therapy called setmelanotide. This drug is being investigated as a therapeutic option for two conditions- leptin…
In a July 9 press release, the Familial Chylomicronemia Syndrome (FCS) Foundation announced its support for a bill introduced by Congressman Paul Tonko (D-NY) and David B. McKinley (R-WV).…
Each year, June 13th is celebrated as Gastrointestinal Stromal Tumors (GIST) Awareness Day. The ultimate goal of awareness days for rare diseases is to help inform both the general public…
Alaina Johns, a Philadelphia based freelance writer, wears two hats. One hat as editor-in-chief of the Broad Street Review, and the other as a patient with several chronic illnesses.…
According to a story from GlobeNewswire, the biopharmaceutical company Onconova Therapeutics, Inc. has recently published results from a phase 1 clinical trial that was sponsored by the company. This trial…
Data has recently been published to support a new diagnostic method for progressive supranuclear palsy, according to GlobeNewswire. Life Molecular Imaging and AC Immune SA have reported this data, which…
By Jodee Redmond from In The Cloud Copy When a patient identified as Ms. B in a case history complained of headaches starting at the back of her head and…
A team of researchers from the University of Alberta have created a possible treatment for facioscapulohumeral muscular dystrophy (FSHD). Their work has been published in the Proceedings of the National Academy…
July is recognized as Juvenile Idiopathic Arthritis Awareness Month. Though arthritis is often considered an illness that is associated with old age, it is estimated that around 300,000 children in…
Timber Pharmaceuticals focuses on rare diseases of dermatologic origin. These include scleroderma, congenital ichthyosis, tuberous sclerosis complex, and facial angiofibromas. They are currently working on two clinical trials. Trial 1…
CMT1A Charcot-Marie-Tooth disease (CMT) has a few different subtypes. 60% of all patients diagnosed with type 1 of the rare disease have CMT1A. This subtype means patients have an duplicate copy…
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 ASH Clinical News, a phase 1 trial of lenzilumab illustrated clinical benefits for approximately one third of participants with chronic myelomonocytic leukemia. It is a novel antibody, and…
When it comes to researching and finding treatments for rare diseases, funding plays a crucial role. Recently, the Medical Research Future Fund (MRFF) Stem Cell Therapies Mission presented Monash…
There are multiple forms of Batten disease, each with their own distinct genetic cause. One of these forms is caused by a mutated CNL6 gene, but researchers were unsure as…
According to a story from The Boston Herald, a new treatment for acromegaly called Mycapssa was recently approved by the US Food and Drug Adminstration (FDA). Developed by Chiasma, a…
According to a story from BioSpace, the drug company Zynerba Pharmaceuticals Inc. recently released the results from a clinical trial. This trial was testing the company's product Zygel™ (CBD gel)…
Vision loss is a major symptom of Stargardt disease, so a main goal of treatments is to combat this loss. In order to test the effectiveness of these treatments, there…
Medical professionals have found that the melatonin levels of Parkinson's patients impact their symptoms, specifically the gastrointestinal, sleep disturbance, and cardiac symptoms. Parkinson's News Today reported on a study that…
Recurrent Pericarditis Pericarditis is a rare autoinflammatory cardiovascular condition. It can lead to changes of the electrical conduction of the heart and a buildup of fluid surrounding the heart. Pericarditis…
© Copyright Patient Worthy
