Articles related to RARE DISEASES

The first treatment for light-chain amyloidosis was approved by the FDA in 2021. Daratumumab-based regimens produce profound hematologic and organ responses, providing a new therapeutic foundation. Early detection, correct fibril typing, the challenges of the very advanced patient, and the lack of therapies to remove amyloid deposits are all being researched but remain elusive.

The Hall-of-Fame quarterback recently alerted worried viewers about the diagnosis of the rare disease after he felt some pain in his neck. Ultimately, the diagnosis changed his outlook on life. “We’re going to go to Europe, going to go to Paris, going to go to wherever we want to go. I’m going to get all this in because I feel like I don’t want to put this off anymore … I may have 25, 30 years left, but I’m going to act like I got one.” Terry Bradshaw

Judith Trotman, MBChB, FRACP, FRCPA, clinical professor at the University of Sydney in Concord, New South Wales, Australia, and head of the Hematology Department at Concord Repatriation General Hospital, provides background on mantle cell lymphoma, its unique treatment challenges, and the significance of the SHINE trial, which assessed ibrutinib plus bendamustine and rituximab in untreated mantle cell lymphoma.

Amar Gajjar, MD, who serves as the co-chair of the oncology department and chair of the pediatric medicine department at St. Jude Children’s Research Hospital in Memphis, Tennessee, answers questions from our friends at Cancer Therapy Advisor. Proton therapy, conventional chemotherapy, targeted therapies, and observed glioma progression are all topics covered by Dr. Gajjar when talking about treatment options for pediatric low-grade gliomas (pLGG) that have relapsed or progressed.

The phase 1 EXPLORER and phase 2 PATHFINDER trials demonstrated that avapritinib can produce complete and long-lasting clinical responses as well as molecular remission in KIT D816V patients. The complex mutational landscape of AdvSM, which is frequently associated with a hematologic neoplasm, poses significant management challenges.

A quartet of current clinical trials involving first-in-class molecules and CRISPR gene editing show great promise. STELLAR investigates a fusion protein in PAH, CodeBreak 200 studies a first-in-class of KRAS inhibitor, EMERGENT-2 focuses on a new treatment for schizophrenia, and NCT04601051 studies a gene editing drug for one form of amyloidosis.