by Madaline Spencer | Nov 10, 2025
The U.S. Food and Drug Administration (FDA) has approved Kygevvi for the treatment of adults and pediatric patients, with an age of symptom onset on or before 12 years, with thymidine kinase 2 deficiency (TK2d). TK2d is a rare genetic disease characterized by...
by Madaline Spencer | Nov 7, 2025
Joan Smith, a patient with systemic mastocytosis, discusses her diagnostic journey with systemic mastocytosis (SM). SM is a rare disease, usually caused by mutations in the KIT D816V gene. The disorder is characterized by uncontrolled mast cell proliferation...
by Madaline Spencer | Nov 6, 2025
Bernd Kasper, MD, PhD, University of Heidelberg Cancer Center, discusses results from the DeFi clinical trial of nirogacestat in patients with desmoid tumors. Desmoid tumors are abnormal growths that arise from connective tissue. The tumors can occur...
by Madaline Spencer | Nov 5, 2025
Alaa Hamed, MD, Global Head of Medical Affairs Rare Diseases at Sanofi, discusses results from the ElevAATe clinical trial of efdoralprin alfa for the treatment of patients with alpha-1 antitrypsin deficiency (AATD). AATD is an inherited disease that...
by Madaline Spencer | Nov 4, 2025
Xiaohui Niu, Director of the Bone and Soft Tissue Tumour Diagnosis and Research Centre at Beijing Jishuitan Hospital, discusses a long-term analysis of the MANEUVER clinical trial of pimicotinib for the treatment of patients with tenosynovial giant cell tumor (TGCT)....
