Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…
There are limited therapeutic interventions for those living with Niemann-Pick disease type C (NPC), a rare and progressive genetic disorder. Unfortunately, many people with NPC experience severe and life-threatening complications…
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…
Let’s start with a little vocabulary lesson. Today’s word? Biomarker. A biological marker, or biomarker, refers to some sort of measurable indicator of disease. For example, blood pressure, cellular gene…
It has been four years since Amaria Granger, now age 14, was diagnosed with a rare disease called Niemann-Pick disease type C (NPC). Since being diagnosed with NPC, Amaria…
In the first part of the "Save Our Medicine" series, you met moms Tiffany, DeAnna, and Sara, who are working to make a change and save experimental medication access for…
For Part 2 of "Save Our Medicine," we continue talking with Tiffany, DeAnna, and Sara about their families' NPC journeys, as well as the push for medication access. If you…
To learn more about Rachael's story, Niemann-Pick type C (NPC) symptoms, the diagnostic process, and how her mother Debbie found and offered support to other families, take a look at Parts…
If your child was sick and there was a real, viable treatment option, the next step seems pretty straightforward: pursuing that option. But what if it wasn’t that easy? What…
In Part 1 of Rachael's story, I spoke with her mother Debbie about what Niemann-Pick type C (NPC) is, the beginning of the diagnostic journey, and how Dr. Behar helped…
“Hi, I’m Rachael, and I’m forever 33.” When Debbie Kaflowitz remembers her daughter, she thinks about everything that Rachael loved to do. Rachael enjoyed dancing and performing in ballet recitals,…
It is often difficult to estimate the prevalence of a rare disease within the United States. For one, it can be difficult to find all of the patients with a…
In 1992, Elsa Burgos and her husband, living in Puerto Rico at the time, welcomed a new addition to their lives: their daughter Nicole. The pair were thrilled to have…
On July 30, 2021, biopharmaceutical company Cyclo Therapeutics shared that it had released new and promising data regarding the safety, efficacy, and tolerability of Trappsol® Cyclo™ ("Trappsol Cyclo") for patients with…
According to a story from MarketWatch, the biotechnology company Cyclo Therapeutics announced that is has proceeded with the enrollment for its phase 3 clinical trial. This trial will evaluate an…
In the past, arimoclomol has not always shown treatment promise. For example, the drug failed to meet primary or secondary endpoints in a clinical trial evaluating arimoclomol for patients with…
Three people in the state of Indiana live with Niemann-Pick disease type C (NPC), and Audrey Mischler is one of them according to WTHI-TV 10. She was diagnosed very recently,…
According to a story from Scary Mommy, mother Sara McGlockin recently received devastating news: the drug that was successfully treating her five year old daughter Marian was being discontinued in…
Marian McGlockin was eighteen months old when she was diagnosed with Niemann-Pick Type C disease, a rare and fatal disorder. Marian could barely speak and was unable to walk. According…
IntraBio has recently launched an extension study of their Phase II trial of IB1001, a treatment for Niemann-Pick disease Type C. This decision was made shortly after analyzing the positive…
According to Newswise, data from a recent clinical trial evaluating IB1001 for patients with Niemann-Pick disease type C (NPC) shows the therapy as effective, safe, and well-tolerated. Sponsored by biopharmaceutical…
According to a story from globenewswire.com, the US Food and Drug Administration (FDA) recently accepted the New Drug Application (NDA) for arimoclomol. This application is for the use of the…
Orphazyme has recently submitted their New Drug Application to the FDA for their Niemann-Pick disease type C (NPC) treatment, arimoclomol. This application comes after the biopharmaceutical company was already granted…
According to a story from globenewswire.com, the biopharmaceutical company Orphazyme A/S has recently announced that it has submitted its New Drug Application (NDA) for its experimental treatment arimoclomol to the…
According to a story from Spectrum News, the Andrews family has been dealing with a rare disease called Niemann-Pick disease type C for years. Parents Pam and Chris knew early…
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