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.
May 10th 2024
A Veterans Affairs study finds low alpha-1 antitrypsin phenotyping rates, indicating the need for improved healthcare provider education on AATD.
Prader-Willi Treatment Enters Phase 3
May 14th 2018Soleno announced this morning that its multi-center Phase 3 clinical trial of Diazoxide Choline Controlled-Release (DCCR) tablets for the treatment of Prader-Willi Syndrome has been initiated. The potential therapy is first being evaluated at the Seattle Children’s Hospital.
Phelan-McDermid Syndrome Treatment Commences Clinical Trial Recruitment
AMO Pharma Limited announces the commencement of patient recruitment for an interventional study of AMO-01, an investigational Ras-ERK pathway inhibitor for the treatment of Phelan-McDermid syndrome (PMS).
FDA Grants IND Clearance to Begin Phase 2 with Lixivaptan in Patients with ADPKD
The US FDA has granted Palladio Biosciences Investigational New Drug (IND) clearance to proceed with a Phase 2 clinical trial of lixivaptan capsules in patients with autosomal dominant polycystic kidney disease (ADPKD).
Oncolytic Virus DNX-2401 Shows Efficacy for Pediatric Brain Tumors
DNAtrix will report data from an ongoing Phase 1 trial of DNX-2401 in pediatric patients with newly diagnosed diffuse intrinsic pontine gliomas (DIPG), which indicated efficacy through a prolonged survival rate.
FDA Approves Treatment for Multiple Myeloma Patients Ineligible for ASCT
May 8th 2018The FDA has approved daratumumab (Darzalex) in combination with bortezomib (Velcade), melphalan, and prednisone (VMP) for the treatment of patients with newly diagnosed multiple myeloma who are ineligible for autologous stem cell transplant (ASCT).
Can Surgery Cure Congenital Hyperinsulinism?
In the recent review, it was shown that surgery can cure nearly all patients with the focal or localized form of congenital hyperinsulinism and prevent complications in patients with the diffuse from in which insulin-producing cells occur throughout the pancreas.
Six-Figure Grant Expected to Assist Researchers in Finding ALS Biomarkers
May 7th 2018A human clinical trial grant totaling $750,000 was awarded this morning by the Muscular Dystrophy Association (MDA) to Massachusetts General Hospital, with the hope that it will accelerate biomarker research for amyotrophic lateral sclerosis (ALS).
Acute Hepatic Porphyrias Explained: Physician Perspective
Bruce Wang, MD, a porphyrias specialist and assistant professor in the gastroenterology division in the department of medicine at University of California San Francisco (UCSF) and UCSF Porphyria Center and the Porphyrias Consortium, explains acute hepatic porphyrias (AHPs).