Zachary Thomas has been an advocate for the mucopolysaccharidosis type I (MPS I) community since he was born. Newborn screening is a public health initiative that tests newborn babies for…
Professionals from all corners of the world convene at SSIEM each year to discuss the latest groundbreaking discoveries. According to a report in BioSpace, one such breakthrough was presented by…
According to an article published in Yahoo, the FDA has recently granted the Rare Pediatric Disease designation to AVR-RD-05, a gene therapy for Hunter syndrome. This designation is reserved for…
In the European Union (EU), Orphan Drug designation ("Orphan designation") is granted to products intended to treat, prevent, or diagnose a life-threatening, chronic, or rare disease. These are defined as…
ANGEL AID CARES began as the brainchild of Cristol Barrett O’Loughlin, out of a shared desire to pay tribute to her own family experience and to uplift others in need.…
From May 11-14, 2021, the American Society of Gene and Cell Therapy (ASGCT) held its 24th Annual Meeting. Due to COVID-19, the meeting was held virtually - but that didn't…
Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most…
A recent meta-analyses of clinical studies and case reports that examined the safety of idursulfase therapy, which is an enzyme therapy, has shown that this form of treatment is…
The Daily News recently published an announcement by researchers at Sangamo Therapeutics showing the results of its first human trial to treat two rare genetic disorders through gene-editing technology. Gene-editing (or…
The Malaysia Lysosomal Diseases Association (MLDA) was formed in 2011 by the hands of eight families. Their goal was to raise awareness and funds for those diagnosed with lysosomal storage…
According to a story from philly.com, four year old Ethan Lieber of the Roxborough neighborhood in Philadelphia is one of just 500 people in the US with Hunter syndrome. This…
The final day of Rare Disease Week took place at the NIH Clinical Center last Thursday. Admission to the NIH was free, and participants had the chance to tour the…
Creative parenting. I find such inspiration when I hear about parents digging deep to adapt surroundings (or life) so their kids can deal with it better. A WBTV social media…
Easton was born at thirty-six weeks gestation on January 6, 2017. He was almost immediately taken to the NICU for something called PPHN (Persistent Pulmomary Hypertension), Easton was intubated for…
Today, Professor Elsa Shapiro and Dr. Christina Lampe presented "Cognitive Impairment in Patients with MPS II: From Disease Burden to Cognitive Testing" at Satellite Symposium, an event sponsored by Shire…
Gene therapy is on the rise, and it just might be exactly what many children suffering from genetic disorders need to save their lives. Today reported that an amazing organization…
REGENXBIO announced last month that the Investigational New Drug application (IND) is active for a Phase I/II clinical trial of RGX-121 for the treatment of Mucopolysaccharidosis Type II (MPS II)…
REGENXBIO Inc., a pharamaceutical company specializing in gene therapy, just shared that it launched a Investigational New Drug application to conduct Phase I/II trials on the new therapy they're developing,…
Sangamo Therapeutics shared some big news about the search for Mucopolysaccharidosis II (MPS II) treatment. They reported that they have, for the very first time, used experimental in vivo gene therapy to treat…
Sean Kisielnicki's life is ruled by Hunter syndrome. This rare condition not only affects him, but takes a toll on the entire family. The morning routine is always the same.…
Recent findings from research done at the University of Pennslyvania indicate a new biomarker associated with a group of rare metabolic diseases called mucopolysaccharidoses (MPS). A biomarker is a measurable…
Karl Swaine is nine years old. He has a rare progressive and genetic disorder called Hunter syndrome. This disorder prevents the body from breaking sugar molecules down. Throughout the world,…
Each year on the very last day of February, Jeff Leider makes a detour on his Hunter syndrome (mucopolysaccharide II) journey to travel from his home state of New Jersey to Washington…
Everyone knows lions are the kings of the jungle/mountain/movie studio. They're brave and ferocious! "Lion" not only describes the personality of one fun little boy living with Hunter syndrome (MPS…
Okay, I’m going to be perfectly honest: I don’t quite know what to make of this. On the one hand, you have some excellent news for people living with mucopolysaccharidosis…
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