News

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a ... Read more

February 17, 2021February 17, 2021

Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

News, syndicated

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare ... Read more

February 10, 2021February 11, 2021

Pandemic Won’t Stop Rare Disease Day on Feb. 28

News, syndicated

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the ... Read more

February 3, 2021February 3, 2021

Staph Infections Prevalent in EB Skin Wounds

News

Infection by the bacteria Staphylococcus aureus is detected in most wounds of patients with epidermolysis bullosa (EB), according to an analysis of a U.S. and Canadian database. The study “Characterization of ... Read more

February 2, 2021February 2, 2021

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

News, syndicated

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs ... Read more

January 27, 2021January 27, 2021

Phase 3 Trial of EB-101 Cell Therapy Seeks to Complete Enrollment This Year

News

Abeona Therapeutics will proceed with enrollment for its pivotal Phase 3 study of EB-101 as a treatment for recessive dystrophic epidermolysis bullosa (RDEB), following a meeting with the U.S. Food ... Read more

January 25, 2021January 25, 2021

COVID-19 Vaccines Pose Little Risk to Rare Disease Patients, FDA, CDC Say

News, syndicated

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to ... Read more

January 21, 2021January 21, 2021

NORD’s Caregiver Respite Program Continues Through Pandemic

News, syndicated

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for ... Read more

January 20, 2021January 20, 2021

INM-755 Cream Fares Well in Volunteers With Open Wounds

News

INM-755, an investigational cannabinol cream for epidermolysis bullosa (EB), showed a positive safety profile and did not interfere with normal healing in a Phase 1 clinical trial conducted in healthy ... Read more

January 13, 2021January 13, 2021

4 New COL7A1 Mutations in Self-Improving DEB Identified in Case Report

News

Four previously unknown disease-causing mutations in the COL7A1 gene are identified in a case report describing the clinical features of five Southeast Asian patients with self-improving dystrophic epidermolysis bullosa (DEB). ... Read more