When Ashley and Connor Henderson received news that they were pregnant, the family was overjoyed. After all, the Henderson family already had Liam and was hoping to add another child…
On August 2, 2021, biotechnology company Amicus Therapeutics ("Amicus") shared that its oral treatment Galafold (migalastat) was approved by the European Commission (EC) for the treatment of adolescent patients (ages…
Medical studies are crucial players in the journey to develop new and more efficacious treatment options for patients with rare diseases. On June 10, 2021, Vertex Pharmaceuticals Incorporated ("Vertex") shared…
Have you ever heard of Bachmann-Bupp Syndrome (BABS)? If not, don't worry, you're not alone. In fact, BABS was only first discovered over the past few years. According to Medical…
According to a news release from late June 2021, biopharmaceutical company Pharming Group N.V. ("Pharming") completed enrollment for a Phase 2/3 clinical trial evaluating leniolisib for patients with activated phosphoinositide…
In the past, Crysvita was approved for subcutaneous administration by a physician for patients with X-linked hypophosphatemia (XLH). This injection could be both invasive and time-consuming. However, according to the…
Dr. Jerry Vockley, MD, PhD, who currently works as director of the Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh, was confounded. Through his research, Dr. Vockley…
CRISPR is a gene-editing technology which holds the potential to treat a variety of genetic diseases and improve patient outcomes. Overall, CRISPR works by creating precise cuts and edits within…
Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV), or alveolar capillary dysplasia (ACD) for short, is a rare, congenital, and life-threatening disorder. Without receiving lung transplants in infancy,…
According to a relatively recent news release from biopharmaceutical company Applied Therapeutics, Inc., AT-007 received Fast Track designation from the FDA. This therapy, which has also received both Orphan Drug…
Mobility issues are common in patients with osteogenesis imperfecta (OI) - especially tendinopathy, or tendonitis. But why does this happen? According to Medical XPress, a study performed by Baylor College…
In a news release from late May 2021, biopharmaceutical company Timber Pharmaceuticals, Inc. ("Timber") shared that all patients have been enrolled in the Phase 2b CONTROL trial. During the trial,…
In a news release from June 9, 2021, biotechnology company Vertex Pharmaceuticals, Inc. ("Vertex") shared that its therapy TRIKAFTA (elexacaftor/texacaftor/ivacaftor and ivacaftor) was approved for expanded use. Now, the treatment…
Rare disease research faces many obstacles: lack of participants, lack of funding, and lack of interest are just a few. Now, the charity Cerebra has launched a network to take…
There are multiple gene mutations associated with severe combined immunodeficiency (SCID), a rare genetic disorder which severely inhibits - or stops - immune function. But according to New Atlas, an…
The U.S. Food and Drug Administration (FDA) runs a number of programs designed to facilitate research and drug development for serious conditions. One such program is the Fast Track program;…
In many cases, therapies for patients with rare disease are first tested or developed in either 2D cell cultures or in animal models, such as fruit flies, mice, or zebrafish.…
According to corporate news shared on Street Insider, biopharmaceutical company BridgeBio Pharma, Inc. ("BridgeBio") is making ground with its AAV5 gene therapy, BBP-631. Recently, the FDA granted Fast Track designation…
In a recent news release, gene therapy company Taysha Gene Therapies ("Taysha") shared the publication of preclinical data on the company's drug candidate, TSHA-102. Currently, Taysha is exploring TSHA-102 as…
Not many people expect a rare disease diagnosis out of the blue. For many, they had been seeking the correct diagnosis for years before finally being given the name of…
There are many reasons why medical research is important. It helps to amplify the patient voice, improve disease-related knowledge, and determine potential treatment goals. Additionally, medical research provides insight into…
When it comes to rare diseases, the diagnostic process can be long and arduous. On average, patients wait around 7 years for a diagnosis. Oftentimes, this also complicates treatment and…
About six months ago, pharmaceutical company Takeda pledged $300M towards developing Arrowhead Pharmaceuticals' ("Arrowhead") ARO-AAT, an RNA-silencing treatment for patients with alpha-1 antitrypsin deficiency (A1AD). According to Fierce Biotech, the…
Jaxson Corcoran was born with tuberous sclerosis complex (TSC), a rare genetic disorder that is characterized by benign tumors forming throughout the body. Treating this condition has become a family…
According to News Medical, researchers from the University of Cincinnati presented findings on a potentially new and effective treatment option for Pompe disease at the virtual American Academy of Neurology…
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