According to a news release from mid-January 2023, the FDA granted Rare Pediatric Disease designation to SYNB1934 for phenylketonuria. This designation is granted to drugs or biologics being developed for…
A town hall meeting was held on February 7th of this year to discuss designs for clinical trial gene therapies. According to a report in Pharmaceutical-Technology, the FDA experts were…
In the first year after her daughter Nora’s Shwachman-Diamond syndrome (SDS) diagnosis, and her daughter Kayla’s subsequent diagnosis, Lisa Superina raised over $130,000 towards SDS research. She held a comedy…
Contributed by Jane Larkindale and Alayna Tress While millions of people globally are living with a rare disease, patients often find it difficult to feel seen or heard throughout their…
Before you read on, make sure to check out Part 1 of our interview. In Part 1, Kyla discusses the two-year diagnostic odyssey that brought her to the point of her Gleich…
Rare Pediatric Disease designation (RPDD) is granted by the U.S. Food and Drug Administration (FDA) to drugs or biologics in development for rare pediatric diseases. In the United States, “rare”…
Make sure to read Part 1 of Kandise's story. In Part 1, she discusses some of the symptoms of hereditary multiple exostoses (HME), as well as how she finally reached a diagnosis.…
Contributed by Anna Ellis Every February 28, millions of people around the world participate in Rare Disease Day to raise awareness about the more than 10,000 identified rare diseases that affect…
At nearly 33 years old, Kyla McGaughey has overcome more challenges that many people can imagine. Her medical journey began in 2019 and it took over two years for her…
Ready to read? Before you do, make sure to check out Parts 1 and 2 of Tracy's story. In Part 1, Tracy describes the symptoms that led her to pursue a diagnosis. Part 2…
Rare Disease Week on Capitol Hill February 28-March 2, 2023 NOTE: Rare Disease Week on Capitol Hill 2023 is an in-person event with some events accessible via livestream. Meetings with…
Clinical trials can play a crucial role in understanding diseases, as well as identifying potential therapeutic options. This is especially important in newly identified or poorly understood conditions such as…
Prior studies have suggested that metformin, often used as a first-line treatment for people with type 2 diabetes (T2D0, could confer benefits for Rett syndrome. In particular, prior studies found…
Lauren Bruccoleri and her husband Matthew weren’t initially planning on having their son Grayson. But when Lauren found out that she was pregnant, she was overjoyed. However, Lauren and Matthew…
When Kandise MacLeod was twelve years old, she began noticing various growths and tumors popping up on her bones. These sometimes caused pain or discomfort; in one case, Kandise even…
Seizures associated with conditions such as Dravet syndrome and Lennox-Gastaut syndrome (LGS) can be difficult to treat; these seizures may be treatment-averse and may not respond well to current anti-epileptic…
Have you heard of the pulmonary microbiota, which may also be referred to as the lung microbiome? This refers to the complex collection of microorganisms (bacteria, viruses, bacteriophages, fungi) that…
Stat News recently published comments by Bruce Bloom, collaboration officer at Healx, Cambridge, UK heralding the major advances in the treatment and the study of rare disease during 2022.…
Before you read on, make sure to check out Part 1 of Kristin and Kayden's story. In Part 1, Kristin discusses the diagnostic journey and how Kayden was diagnosed with a dermal…
Patients want to be an integral part of drug development. Their voices have been heard on many topics ranging from the importance of Newborn Screening, choosing meaningful endpoints and meaningful…
A rare disease diagnosis can conjure up a multitude of emotions, from relief at finally learning what is going on to fear or isolation when trying to figure out what…
Before you read on, don't forget to check out Part 1 of Jennifer's story. In Part 1, Jennifer shared her diagnostic journey and the four year stretch it took her to receive…
Initially, belimumab (sold under the brand name BENLYSTA) was approved for the treatment of patients for lupus and lupus nephritis. It was the first FDA-approved biologic treatment within this indication.…
Gavin Chandler loves toy cars, watching Big City Greens, fans, the “Baby Shark” song, and anything that lights up or makes noise—including, his mother Jessica shares, the vacuum cleaner. He…
In the United States, Orphan Drug designation is granted by the FDA to drugs focused on the treatment, prevention, or diagnosis of rare conditions; these are those affecting fewer than…
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