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Patients with Chronic Kidney Disease and Hyperkalemia Associated with Major Adverse Cardiovascular Events

• Post author:Alyssa Stevens
• Post published:December 2, 2021
• Post category:Chronic Kidney Disease/Hyperkalemia

According to a recent article, a study shows patients with nondialysis-dependent chronic kidney disease and transient or chronic hyperkalemia, correspond with major adverse cardiovascular events (MACE) and even death. Chronic…

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New Gene Silencing Treatment Could Target The Root Cause of Porphyria

• Post author:Trudy Horsting
• Post published:December 2, 2021
• Post category:Acute hepatic porphyria/hepatic porphyria

The National Institute for Health and Care Excellence (NICE) has just recommended a gene silencing treatment for acute hepatic porphyria (AHP), a rare disease. AHP AHP is a term for…

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“Save Our Medicine:” NPC Families Fight to Save Experimental Medication Access (Pt. 2)

• Post author:Jessica Lynn
• Post published:December 1, 2021
• Post category:Niemann-Pick Disease/Niemann-Pick Type C Disease

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…

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Study for Vision Loss from NF1 Optic Pathway Glioma Funded By Gilbert Family Foundation

• Post author:Alyssa Stevens
• Post published:December 1, 2021
• Post category:Neurofibromatosis/Neurofibromatosis Type 1/Neurofibromatosis Type 2

According to a recent article, the nonprofit Gilbert Family Foundation has offered to fund the $5.4 million clinical study to better understand vision loss from NF1-associated optic pathway gliomas (NF1-OPGs).…

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Courtesy of Debbie Kaflowitz

Remembering Rachael Kaflowitz: One Mother’s Fight to Support NPC Research and Awareness (Pt. 3)

• Post author:Jessica Lynn
• Post published:December 1, 2021
• Post category:Niemann-Pick Disease/Niemann-Pick Type C Disease

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…

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RGX-202 for DMD Earns Orphan Drug Designation

• Post author:Jessica Lynn
• Post published:December 1, 2021
• Post category:Duchenne Muscular Dystrophy

According to a November 23 article from Muscular Dystrophy News, the FDA recently granted Orphan Drug designation to clinical-stage biotechnology company Regenxbio's experimental gene therapy candidate, RGX-202. The gene therapy,…

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A Five Year $2.25M Grant Has Been Awarded for the Study of Alport Syndrome

• Post author:Rose Duesterwald
• Post published:December 1, 2021
• Post category:Alport syndrome

  Jeffrey Miner, Ph.D., Director of Basic Research in Washington University’s Division of Nephrology, has received a $2.25M five-year grant from the National Institute of Diabetes and Digestive and Kidney…

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Study: Telotristat Ethyl Improves Symptoms in Carcinoid Syndrome Patients

• Post author:Kendall Mason
• Post published:December 1, 2021
• Post category:Carcinoid Syndrome

A recent poster presentation at the 2021 NANETS Annual Meeting focused on the RELAX study, which evaluated patient-reported outcomes from carcinoid syndrome (CS) patients being treated with telotristat ethyl. According…

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Jo’s Story: Receiving a Late Diagnosis of von Willebrand Disease

• Post author:Kendall Mason
• Post published:December 1, 2021
• Post category:Von Willebrand's Disease

Jo Traunter was told that she was "a bleeder" throughout her life, whether it was by family, doctors, or others. She earned this title after living through decades of heavy…

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