Physician led trial in rare disorder
Hailey-Hailey Disease (HHD, also known as familial benign chronic pemphigus) is a rare, lifelong, inherited disorder where epidermal skin cells (keratinocytes) cannot properly adhere. This causes periodic eruption of plaque-like lesions, blisters and ulcerations on areas where skin folds (flexural), often on the neck, armpits or groin. Most patients have permanent lesions. HHD usually appears in the third or fourth decade of life.
HHD is passed on as a dominant trait (autosomal dominant). In approximately 70% of all patients a positive family history can be traced. Mutations in the ATP2C1 gene (localised on chromosome 3q21-q24), encoding the Golgi secretory pathway calcium pump (Ca2+-dependent ATPase), impair epidermal keratinocyte adhesion.
Current ineffective treatments include topical corticosteroids, antibiotics, and mTor inhibitors which attempt to manage minor outbreaks. There is no professional consensus on a first-line therapy as no remission has been achieved in patients. Several literature reports indicate that HHD patients being predisposed to skin cancer.
The worldwide prevalence of HHD is 1:50,000.
SCENESSE® (afamelanotide 16mg) in HHD
In 2013, pilot data was published on the use of SCENESSE® in a physician led trial in HHD. You can read the announcement here. In 2014 a Phase II physician-led study commenced in Rome, Italy, to further investigate the use of the drug in HHD. For more information, see the Company’s announcement here.