News

Castle Creek, Mayo Clinic Join Forces in Search of Gene Therapies

Castle Creek Biosciences has partnered up with Mayo Clinic to search for gene therapies for classical Ehlers-Danlos syndrome (EDS) and a brittle bone disease called osteogenesis imperfecta (OI). While Mayo Clinic will carry out the preliminary research to identify and assess gene therapy candidates, the most promising…

New Data-sharing Program Aims to Speed Innovation in Rare Diseases

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…

Newly Found vEDS Mutation Causes Severe Joint, Muscle Involvement

A new mutation in the most common gene causing vascular Ehlers–Danlos syndrome (vEDS) — COL3A1 — was found to lead to severe involvement of the joints and muscles, a case study reported. The findings provide insight into mutations causing the disease and expand clinicians’ understanding of “the phenotypic spectrum…

Ehlers-Danlos Society Launches Center of Excellence Program

Seeking to reduce the average 10–12 year wait time for the diagnosis of a hypermobility spectrum disorder, the Ehlers-Danlos Society has created the Center of Excellence program to better educate both patients and physicians about these diseases. The goal is to assist people with Ehlers-Danlos syndrome (EDS)…

New Institute Aims to Leave No Rare Disease Patient Behind

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…

New Aytu Advisory Board Working to Advance AR101 for vEDS

Aytu BioPharma has formed its new scientific advisory board, which will work toward advancing the global development of AR101 (enzastaurin), an antitumor agent with the potential to treat vascular Ehlers–Danlos syndrome (vEDS). There currently are no approved treatments for vEDS, characterized by thin, translucent skin that is easily bruised, and…

Group Focuses on Rare Disease Clinical Trial Participation

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…