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.
New 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.
Data 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.
In 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.
There’s still much to be understood about gene therapy and its application to rare diseases like sickle cell, but at the progressive pace it’s moving at, gene therapy is likely to be integrated further into standard practice.
Investigators 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.
A significant factor in treating sickle cell disease is the practice of shared decision-making, which gives the provider and patient a collaborative approach to disease management, according to Dr. Titilope Fasipe.