RDEBRecessive Dystrophic Epidermolysis Bullosa
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The family, from Worcester, are taking part in a 10K charity run on September 15 to raise money and awareness to help combat RDEB.
FCX-007 is Fibrocell's clinical stage, gene therapy product candidate for the treatment of RDEB, a congenital and progressive orphan skin disease caused by the deficiency of the protein COL7.
Around 1,000 people live and suffer with RDEB in the UK.
According to the company, it is advancing PTR-01, an investigational protein replacement therapy that uses a recombinant collagen type VII (rC7) for the treatment of RDEB. PTR-01 is designed to be systemically available through intravenous delivery.
It increases the breadth of Castle Creek's potential epidermolysis bullosa therapies by combining our clinical trial evaluating our investigational topical therapy (CCP-020) for epidermolysis bullosa simplex (EBS) with Fibrocell's gene therapy to potentially treat RDEB," said Greg Wujek, chief executive offiver of Castle Creek Pharmaceuticals.
She referred to a published case report, describing the results of the fractional laser to treat a nonhealing wound in a young adult with RDEB (Pediatrics.
The anticarcinogenic effect, if proven to be real, in combination with wound healing effects would make Oleogel-S10 an ideal substance to use in EB wounds at early stages, especially in severe generalized RDEB, the subtype with the highest number of aggressive and metastasizing SCCs.
Dystrophic epidermolysis bullosa (DEB) is divided into three autosomal subtypes: autosomal dominant DEB (ADDEB), recessive DEB (RDEB), and severe generalized recessive DEB (SGRDEB), previously Hallopeau-Siemens subtype (Table 1).
Among several subtypes of EB, severe form of EBS Dowling-Meara (EBS-DM), Herlitz-type JEB (JEB-H) and recessive DEB (RDEB) can be lethal in neonatal period.26
Dysphagia (even to saliva) occurs in 76% of patients with recessive dystrophic epidermolysis bullosa (RDEB) and in 15% of patients with junctional epidermolysis bullosa (JEB).