News

Note: This story has been updated to note that the gene that codes for collagen type VII protein is the COL7A1 gene, not the C7 gene.  A Phase 1/2 trial evaluating the investigational therapy PTR-01 for recessive dystrophic epidermolysis bullosa (RDEB) has started dosing patients. PTR-01 is a recombinant version…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Autoimmune blistering diseases, including epidermolysis bullosa, in children have a better prognosis than in adults, but long-term follow-up is necessary for adequate management due to frequent late relapses, a study suggests. The study, “Long-term evolving profile of childhood autoimmune blistering diseases. Retrospective study on 38 children,”…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

The care and management of a 6-month-old baby with epidermolysis bullosa (EB) simplex during surgery for a corneal transplant was described for the first time in a recent case report. The study, “Anaesthetic management of a rare case of paediatric epidermolysis bullosa,” was published in the Indian Journal…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

In the absence of collagen 7, the protein missing in recessive dystrophic epidermolysis bullosa (RDEB) patients, the protein thrombospondin-1 (TSP1) plays a key role in the development of fibrosis, or scarred tissue. This newly discovered mechanism suggests TSP1 as a potential therapeutic target for RDEB patients. The study, “Thrombospondin-1 is a major…

A specific class of T cells – called Th17 cells — may drive inflammation in patients with epidermolysis bullosa simplex (EBS) generalized severe, and targeting these inflammatory pathways might lessen blistering in these patients. The study, “Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

The case report of a patient with epidermolysis bullosa acquisita who developed steroid-induced diabetes underscores the importance of counseling patients about possible medication side effects and ensuring close follow-up during treatment. The study, “Steroid-induced Diabetes Complicating Treatment of Epidermolysis Bullosa Acquisita: A Preventable Treatment Complication Stresses the Importance…