Eliza is now 13 years old and was diagnosed at the age of three with a neurodegenerative disorder known as Sanfilippo syndrome. Eliza’s mother, Dr. Cara O’Neill, a pediatrician and…
Four-year-old Emmett Doucette is currently fascinated by firemen, dinosaurs (he has a favorite T-rex toy!), and toy race cars. He’s known to wear a fun fireman outfit and he loves…
Enzyme replacement therapy (ERT) has been explored as a potential therapeutic option for mucopolysaccharidosis type III A (MPS III-A or Sanfilippo syndrome type A). However, these solutions have not…
Have you ever heard of a natural history study? In short, a natural history study studies people who have, or are at risk of developing, a specific medical condition;…
Seven years ago, David and Amber Negele married. The pair couldn’t wait to begin their blissful wedded life together. Just a few years after their marriage, David and Amber decided…
Both the 3rd Annual Gene Therapy for Neurological Disorders meeting and the ADVANCE 2022 Sanfilippo Community Conference were held in July 2022. During both meetings, researchers presented new data from…
When Sophia Scott was growing up, her parents noticed that she was displaying a variety of different potentially concerning traits. They began undergoing some tests. Eventually, just one day before…
Fundraising is extremely important when it comes to rare disease research, and recently a community came together to help a little boy living with Sanfilippo syndrome. Simon is 5 years…
In 2019, Connor Dobbyn, now 13, was diagnosed with Sanfilippo syndrome type C, also known as mucopolysaccharidosis III (MPS III). After his diagnosis, his parents came to recognize that there…
A new ale is hitting Doubleday’s and The Bit in Dobbs Ferry with a very special purpose. Named "Jacob the Warrior" IPA, this beer was created to raise awareness for…
Connor Dobyn's parents recognized that their son was missing important developmental delays early on. They brought their concern to the doctor, where Connor was diagnosed with autism. For the next…
WCVB NewsCenter 5 recently published a news item featuring Nancy and Paul Burke and their three daughters. The Burke family has been living in the shadows of the deadly Sanfilippo…
Seelos Therapeutics has recently received the Rare Pediatric Disease Designation for their Sanfilippo syndrome treatment, trehalose. This designation is an incentive for companies to make therapies for conditions with an…
According to a story from Sanfilippo News, the healthcare tech company RDMD has recently announced that it has raised $14 million in Series A financing that will be dedicated towards…
The Connect MPS Patient Registry was created in 2016 to learn more about Sanfilippo syndrome and mucolipidoses (ML). 24 advocacy organizations are a part of this registry, all of which…
According to BioSpace, healthcare technology company RDMD has raised $14 million in Series A financing, and developed a partnership with UCB. In addition to growing their platform to discuss…
By now, everyone has heard of COVID-19. Information is constantly being updated surrounding the nature, symptoms, spread, and potential treatments for the illness. Despite this constant influx of information, there…
According to a story from gurufocus.com, the biopharmaceutical company Abeona Therapeutics, Inc., recently announced the presentation of positive interim findings from two different phase 1/2 clinical trials. These trials were…
A family is grieving for their daughter and taking it one day at a time in the face of a terminal diagnosis. Kelly and Andrew Mills became pregnant with…
According to a story from BioBuzz, the innovation of a platform for the delivery of gene therapies could help trigger a golden age of development for this new class of…
Seelos Therapeutics has won a meeting with the European Medicines Agency (EMA) to advance its therapy, trehalose, for the treatment of neuro-degenerative diseases, specifically Sanfilippo syndrome. At this meeting, which…
According to a story from metro.co.uk, Harley Bond was three years old when he was first diagnosed with Sanfilippo syndrome type B, a rare progressive genetic disorder. Now five years…
According to a story from forextv.com, the biopharmaceutical company Seelos Therapeutics, Inc. has recently announced that the US Food and Drug Administration (FDA) has accepted their Investigational New Drug (IND)…
Are we ready for our close-up? The second annual Selections from DISORDER: The Rare Disease Film Festival at Biotech Week Boston will be held at the Takeda Auditorium in Cambridge,…
According to a story from globenewswire.com, the biopharmaceutical company Abeona Therapeutics, Inc. recently issued an announcement in regards to the company's Phase 1/2 clinical trial, which is testing the company's…
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