The Rare Disease Report page is a resource for medical news and expert insights on rare diseases. This page features expert-led coverage, articles, videos and research on the therapies and development of treatments for sickle cell disease, multiple myeloma, and more.
April 29th 2024
FDA approves mavorixafor (XOLREMDI) for WHIM syndrome, the first approved treatment for the rare disease.
Efanesoctocog Alfa Attains FDA Priority Review for Treatment of Hemophilia A
August 31st 2022The FDA granted priority review for the Bioloigics License Application (BLA) Sanofi submitted for efanesoctocog alfa indicated for individuals with hemophilia A with a decision date set for February 28, 2023.
Study Quantifies Various Types of Sleep Disturbance Prevalent in Rare Disease Population
August 25th 2022New research supports the inclusion of sleep disturbance in clinical evaluation and management in the treatment of Phelan-McDermid Syndrome (PMS) due to the drastic impact it can have on the quality of life for patients and their families.
Phase 2 Data Support Continued Evaluation of Mitapivat for Alpha, Beta Thalassemia
August 16th 2022Data from this phase 2 study revealed that the efficacy and safety results support the continued investigation of mitapivat as treatment for adults with either α- or β-thalassemia who are not dependent on transfusions.
CDC will Include New ICD-10-CM Diagnosis Code for a Rare Disease in Fall
August 5th 2022In October, a new ICD-10-CM diagnosis code will be activated for APDS, a rare primary immunodeficiency disease, which will enable physicians and payers to add the diagnosis to patient charts for the first time in the US.
Study Supports Capsaicin as Potential Pain Treatment for Patients with SCD
July 25th 2022Investigators found that when assessing patients with sickle cell disease and neuropathic pain the TRPV1 receptor is a crucial component in the development of hypersensitivity and potential therapeutic benefit of capsaicin.