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Netherlands-based ProQR Therapeutics is supporting Rare Disease Day 2018 and will celebrate the legacy of rare disease pioneer Henri A. Termeer. ProQR develops RNA-based therapies for severe rare genetic diseases such as dystrophic epidermolysis bullosa (DEB), cystic fibrosis, and Leber’s congenital amaurosis 10 (LCA 10), which is the…

In recognition of Rare Disease Day 2018, BioNews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

A bone-anchored hearing aid was implanted in a patient with epidermolysis bullosa (EB) who had mixed hearing loss, according to a case report. There was minimal damage to the surrounding skin, which is generally seen with conventional hearing aids in EB patients. The case report, “Successful…

Combining genetic and protein analyses is a successful strategy to identify unusual cases of epidermolysis bullosa (EB), a German study shows. The research, “The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis,” was published in the journal Acta Dermato-Venereologica. EB is a group of…

David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…

A Phase 2/3 clinical trial testing diacerein in the form of a cream applied to the skin showed that it could significantly reduce the number of blisters in patients with epidermolysis bullosa simplex (EBS). No treatment-related adverse events were reported. The results of the small Austrian trial were published…

Japanese physicians have reported a newly discovered mutation in the COL7A1 gene, called c.6885_6898del14, which resulted in the development of recessive dystrophic epidermolysis bullosa (RDEB) in a child. The results were published in a study titled, “A case of recessive dystrophic epidermolysis bullosa with a novel c.6885_6898del14…

The U.S. Food and Drug Administration (FDA) will allow pediatric patients to enroll in the Phase 2 segment of an ongoing trial to evaluate FCX-007 as a potential gene therapy for recessive dystrophic epidermolysis bullosa (RDEB), Fibrocell Science recently announced. The FDA’s approval follows positive results seen in the first phase of the…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

Abeona Therapeutics‘ EB-101, a gene therapy in development for patients with recessive dystrophic epidermolysis bullosa (RDEB), has received the regenerative medicine advanced therapy (RMAT) designation by the U.S. Food and Drug Administration (FDA). The RMAT designation is attributed to promising “regenerative” therapies — cell therapies, tissue engineering, or cell and…

A rare case of hair loss associated with PLEC gene mutation and epidermolysis bullosa simplex with muscular dystrophy was reported for the second time in a patient from the Azores. The case report was published in the journal BMC Dermatology. Epidermolysis bullosa (EB) is caused by…