Rare Diseases
Conference Coverage
When to suspect calciphylaxis and what to do about it
Calciphylaxis is a skin condition with no generally accepted diagnostic criteria clinically, radiographically, or histologically.
News
Osilodrostat gets FDA go-ahead for Cushing’s disease in adults
The oral cortisol synthesis inhibitor is the first therapy approved by the agency to address the overproduction of cortisol.
News
Upcoming vaccine may offset surge in polio subtypes
Response to polio outbreaks involves fast-tracking a modified oral vaccine.
Conference Coverage
Esophageal stricture signals urgent treatment in kids with butterfly skin
LONDON –
Conference Coverage
Prioritize oral health in children with DEB
LONDON – While it may not be the first thing on the minds of families of children with DEB, it is important to consider oral health early to...
Conference Coverage
Deferiprone noninferior to deferoxamine for iron overload in SCD, rare anemias
An oral iron chelator granted accelerated approval for thalassemia is noninferior to deferoxamine for iron overload in patients with sickle cell...
News from the FDA/CDC
Zika virus: Birth defects rose fourfold in U.S. hardest-hit areas
U.S. jurisdictions without local transmission of the virus saw no increase in infants born with brain abnormalities and/or microcephaly or with...
Conference Coverage
Phase 2 studies show potential of FcRn blockade in primary ITP
ORLANDO – The results support continued investigation in phase 3 trial for rozanolixizumab and efgartigimod, according to investigators.
Conference Coverage
Families face challenges of gene therapy
Patients and manufacturers continue on a learning curve to improve trial designs and patient experiences.
Conference Coverage
Experts address barriers to genetic screening
WASHINGTON – Panel explores clinical implications of removing barriers to genetic testing for newborns and carriers.
Conference Coverage
C-Path and NORD team up to speed development of treatments for rare disorders
ROCKVILLE - A new data analytics platform aims to accelerate therapies from bench to bedside for rare diseases.