For information on Fabry disease, please refer to the following resources:
To view scientific articles which report data on the use of pharmacological chaperone technology in Fabry disease, please click here.
Epidermolysis Bullosa (EB) is a rare genetic disorder that manifests as blistering or erosion of the skin, and, in some cases, the epithelial lining of other organs. EB is chronic and can potentially be disfiguring and fatal. Patients with EB have painful wounds and blisters that can lead to infection and scarring. There are many genetic and symptomatic variations of EB, but all forms share the common symptom of fragile skin that blisters and tears from even the slightest friction or trauma. There are currently no approved treatments for EB. The current standard of care consists of pain management as well as bandaging and cleaning of open wounds to prevent infection. According to third-party market research, there are approximately 30,000-40,000 people diagnosed with EB in major countries (the U.S., Germany, France, England, and Japan).
Inherited EB encompasses more than 30 phenotypically or genotypically distinct entities, which share as a common feature mechanical fragility of epithelial lined or surfaced tissues, most notably the skin. A characteristic feature of all types of EB is the presence of recurrent blistering or erosions, which is the result of even minor friction.
There are four types of genetically inherited EB:
These four types of EB are similar phenotypically (that is, in what their physical manifestations look like), but differ genotypically (in their genetic makeup) as well as in the area of the skin where there is blistering, otherwise known as "the site of ultra-structural disruption or cleavage." There is also a rare autoimmune form of the disorder called EB acquisita.
In the more severe forms of the disease, blistering can lead to deformities such as fusion of the fingers and toes, secondary skin infections, sepsis, and even death. EB may also affect the mouth and esophagus, leading to eating and swallowing problems. Serious complications, including squamous cell carcinoma, may occur in EB patients who survive childhood, which results in a high rate of mortality.
EBS accounts for the majority of these cases, with DEB the next most common form. JEB is less prevalent and Kindler is the rarest of the four. These major types are defined by the precise ultra-structural level of the skin, which splits and blisters.
For more information on EB, please refer to the following resources:
To view scientific articles which report data on a novel and proprietary topical treatment under investigation for EB, please click here.
Active, not recruiting.
A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of SD-101 Cream in patients 1 month and older with a diagnosis of Simplex, Recessive Dystrophic, or Junctional non-Herlitz EB who have a wound that meets specific study criteria as assessed by a healthcare professional. SD-101 (6%) or placebo will be applied topically, once a day to the entire body for a period of 90 days. Patients who complete the study will be eligible to enroll in an open-label extension Study (SD-006).
More information: www.clinicaltrials.gov: NCT02384460
Ongoing, recruitment closed. Patients who completed the treatment period in the Phase 2b study (SD-003) of SD-101 were eligible to roll over into SD-004.
Open-label extension study to assess the continued safety of topically applied SD-101 Cream (6%) in subjects with Simplex, Recessive Dystrophic, and Junctional non-Herlitz EB. SD-101 (6%) is applied topically, once a day to the entire body.
More information: www.clinicaltrials.gov: NCT02090283
For additional information on Pompe disease, please refer to the following resources:
To view scientific articles which report data on the use of pharmacological chaperone technology in Pompe disease, please click here.
For more information on CDKL5, please refer to the following resources: