Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…
There are many rare or congenital diseases that, without early detection and treatment, can cause serious health issues and complications. For example, early treatment of homocystinuria (HCU) could delay or…
It’s October, so you know what that means – it’s Homocystinuria (HCU) Awareness Month! The goal of HCU Awareness Month is to raise awareness of homocystinuria throughout the medical…
On September 8, 2022, HCU Network America, a Patient Worthy partner organization, hosted a webinar program titled "Classical Homocystinuria: A Journey to Improve Outcomes Through Newborn Screening Methodology." The webinar…
Patient Worthy partner HCU Network America and RARE X, a rare disease patient data service organization, have recently partnered in order to create a registry of patients living with homocystinuria,…
Rare disease research itself is often overlooked in the medical sphere, so it's not difficult to imagine how many singular aspects of rare disease research are forgotten about completely. One…
In a recent news release, enzyme engineering company Codexis, Inc. shared that its product CDX-6512 received both Orphan Drug and Rare Pediatric Disease designations from the FDA. Both designations were…
My daughter, Carson, was born in June 2020. I received a call 1.5 weeks later about Carson’s abnormal newborn screening. I was told it was most likely an error, but…
Adam Settle, is an artist, football lover, and the youngest of eight. He’s also the subject of the new book, No Day Wasted: The Adam Settle Story, by Susan F. Stallings.…
In early December, biotechnology company Aeglea BioTherapeutics, Inc. ("Aeglea") announced that its therapy ACN00177 received Rare Pediatric Disease designation from the FDA for the treatment of homocystinuria. Should this drug…
HCU Network America is a nonprofit organization dedicated to supporting patients with homocystinuria (HCU) and finding a cure. This October, the group is organizing HCU Awareness Month. With the goal…
What is Homocystinuria? Classical homocystinuria, or HCU, is a rare metabolic condition which its caused by a deficiency of the CBS enzyme. It results in high levels of homocysteine in…
When Jessica Karnes was a kid, she was told she was no longer allowed to eat chicken nuggets. As a self-proclaimed lifelong picky eater—and a four-and-a-half-year-old at the time—this was a…
In a recent article appearing in BioPortfolio, Orphan Technologies announced a Phase 1/2 clinical trial involving the first Classical Homocystinuria (HCU) patients to be treated with OT-58. Twelve patients were enrolled as…
There is a great unmet medical need for patients living with metabolic disorders. There are few approved treatments for these conditions and many are fatal. These diseases include phenylketonuria, homocystinuria, tyrosinemia, and maple syrup…
Most patients diagnosed with Homocystinuria (HCU), a rare metabolic disorder, don't receive their diagnosis until later in life. Scientists were at a loss for why patients with phenylketonuria (PKU), a similar…
The inaugural Homocystinuria Network America Conference was held April 21st-22nd in Westford, MA. The families in attendance traveled from all across the US for the event. They all have different…
Want an excuse to get to Florida and learn more about the science of human genetics in society and health? Then we definitely have an event to tell you about!…
August 21st is the online registration deadline for this rare disease event! The site says the 15th and the 21st, so either way, you'll want to check out the details…
Treatment is expensive. The HealthWell Foundation gets it, and they’re here to help. Insurance companies don’t want to pay more than they have to for your medicine. It’s the nature…
The HCU Network of America is not only trying to spread awareness and encourage research for homocystinuria, they were founded to serve as a resource for those currently living with…
Homocystinuria is an extremely rare disorder. It is estimated that only 1 in 344,000 people in the world have it. Homocystinuria is a genetically inherited. This means the child’s parents…
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