Top 5 Rare Disease News of the Week—September 16, 2018

SEPTEMBER 22, 2018
Rare Disease Report® Editorial Staff

top 5
#5: PROOF Registry Study Reaffirms Benefit of Using Pirfenidone to Treat IPF

There are only 2 antifibrotics currently available to treat patients with idiopathic pulmonary fibrosis (IPF), a progressive, deadly lung disease that is associated with a median survival time from diagnosis of 2 to 5 years: pirfenidone (Esbriet) and nintedanib.

Although clinical trials provide important safety and efficacy data associated with these treatments, restrictive inclusion and exclusion criteria can make it difficult to apply results to real-world populations of patients with the disease.

In an effort to provide data on longitudinal treatment outcomes in real-world populations, a team of investigators launched the PROOF registry, an observational study that has been ongoing since 2013 which has been dedicated to monitoring disease progression in patients with IPF.

Read more about pirfenidone treatment for IPF.

#4: Study Discovers Link Between Butterfly Syndrome and Skin Cancer

An international team of investigators has made a discovery about the cause of autosomal recessive dystrophic epidermolysis bullosa (RDEB) that sheds light on how the disease leads to cancer in some patients and offers clues to potential new approaches to treatment.

Also known as butterfly syndrome, RDEB is a rare genetic condition affecting the skin, causing it to blister and easily form erosions from minor injuries such as scratching or rubbing. According to the National Institutes of Health (NIH), the overall estimated incidence of dystrophic epidermolysis bullosa in the United States is 6.5 per million newborns, with more severe autosomal recessive forms of the disease occurring in 1 per million newborns. In cases of the most severe form of the condition, Hallopeau-Siemens type RDEB (RDEB-HS), infants are often born with widespread skin blistering and erosion occurring during birth. Healing skin develops severe scarring, and, along with other complications, patients with the disease are at high risk for developing an aggressive form of squamous cell carcinoma (SCC) as young adults.

Read more about the link between butterfly syndrome and skin cancer.

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