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…
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…
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…
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 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…
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 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)…
According to a story from finanznachrichten.de, the biopharmaceutical company Abeona Therapeutics, Inc. recently announced that its experimental medical product ABO-101 has earned Fast Track designation from the US Food and…
A New Partnership Patient Worthy is honored and excited to announce our new partnership with The B.L.A.I.R. Connection. The B.L.A.I.R. Connection was founded by Grey Chapin who knows firsthand what…
According to a story from Market Screener the biotechnology company Bioblast Pharma has announced a new partnership with Team Sanfilippo a nonprofit foundation which is committed to medical research related…
According to a story from globenewswire.com, the biopharmaceutical company Lysogene and the drug developer Sarepta Therapeutics, Inc., have recently announced that the first patient has been dosed in a Phase…
We all got really excited last year when India implemented a new plan to benefit rare disease patients. It was called the National Rare Disease Policy. Basically, it put 12.86…
REGENXBIO is a biotechnology company that has been developing a technology platform for gene therapy called NAV. AAV9 is one of the vectors being tested with NAV technology as a…
According to a story from Newsweek, when 25 year old Rebecca Griffiths first knew that her son Reggie, now aged two, was diagnosed with Sanfilippo syndrome, she had to face…
A gene therapy being developed as a treatment for Sanfilippo syndrome has just been awarded Regenerative Medicine Advanced Therapy (RMAT) status in the US, reports GlobalGenes. Sanfilippo syndrome is a…
Terrence Merrill shares the challenging emotional realities of raising a child with Sanfilippo syndrome. You can read more background about the Merrill's battle against this rare disease in our article here.…
According to a story from tapinto.net, the Merrill family was crushed upon learning that their five-year-old daughter Leila was born with Sanfilippo syndrome, a lysosomal storage disease that ultimately causes…
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