Gene Transfer Study for RDEB at Stanford University
Stanford is currently looking for subjects who are 13 years of age or older with Recessive Dystrophic Epidermolysis Bullosa (RDEB) to participate in a gene transfer study. Entrance into the gene transfer study is a two-step process. They will select subjects who have first participated in our study of the characteristics of patients with dystrophic EB. The Characteristics study will involve a trip to Stanford, in which they will perform blood tests, skin biopsies, and possibly genetic testing. They will pay for the laboratory expenses and reasonable travel expenses related to this visit to Stanford University. Click here for more information on the Characteristic study. Please contact our research coordinator at (650) 721-7166 for information on this gene transfer study or the Characteristics study or if you have any questions.
Pruritus Phase II Clinical Trial with 14 EB patients
The drug is Serlopitant (which was previously used for overactive bladder) was shown to reduce itch in 257 adult patients with chronic pruritus/itch. Now the goal is to prove efficacy/safety in EB patients 13 years and older. Stanford has received both FDA and IRB approval and they have registered the trial on clinicaltrials.gov. They are in process of recruiting patients. Click here.
For a complete description of the work taking place at Stanford, please visit Stanford Dermatology Website's Special Clinic page here.
Stem Cell Transplant for RDEB at the University of Minnesota
This is an open-label, single institution, phase II study in patients with epidermolysis bullosa (EB). The underlying hypothesis is that the infusion of bone marrow or umbilical cord blood from a healthy unaffected donor will correct the collagen, laminin, integrin, or plakin deficiency and reduce the skin fragility characteristic of severe forms of EB. A secondary hypothesis is that mesenchymal stem cells from a healthy donor will enhance the safety and efficacy of the allogeneic hematopoietic stem cell transplant as well as serve as a source of renewable cells for the treatment of focal areas of residual blistering.
For more information about this study, please call (888) 601-0787 or (612)- 273-2800 or visit our website http://bmt.umn.edu
SD-101™, is Amicus Therapeutics investigational therapy that is being evaluated for the treatment of skin blistering and lesions associated with Epidermolysis Bullosa (EB), including facilitation of healing of skin lesions and reduction of the incidence and/or severity of new lesions. SD-101™ is currently in a pivotal Phase 3 clinical trial in the US and Europe. Based on promising early clinical data in EB patients, SD-101 has received Breakthrough Therapy Designation by the U.S. Food and Drug Administration (FDA) for the treatment of patients with inherited EB.
SD-005 is a Phase 3 trial currently being conducted in multiple sites in the U.S. and Europe to evaluate the safety and efficacy of SD-101™ in patients 1 month and older with various sub-types of EB (Simplex, Recessive Dystrophic and Junctional [non-Herlitz]).
SD-005 is a randomized, double-blind, placebo-controlled trial to evaluate the safety and efficacy of SD-101™ in 130 patients with various sub-types of EB (Simplex, Recessive Dystrophic and Junctional [non-Herlitz]). Participants will be randomized 1:1 to two treatment groups receiving either SD-101™ 6% or placebo applied over their entire body once daily for three months. The primary efficacy endpoint will be evaluation of closure of a selected target chronic wound. Improvement in itching, pain, full-body wound and lesion coverage will also be assessed. Investigators will also assess safety.
IMPORTANT UPDATE ABOUT THE ONGOING Amicus Therapeutics Inc TRIAL (SD-005)
Amicus has reached an agreement with the FDA that will allow everyone completing the current study, SD-005, to participate in what is called an open label study (Study SD-006). This means that everyone who has completed the 3 month study will be eligible to continue to receive the cream with the active ingredient.
Learn more about this therapy, trial entry criteria, study locations and more at EBstudy.com
Validation of iscorEB Part 1: instrument reliability and construct validity
Dr. Anna Bruckner, at Children’s Hospital Colorado (Aurora, CO), and Dr. Elena Pope, at The Hospital for Sick Children (Toronto, Canada), are inviting children and adults with EB to participate in a research study. This study is to test a new tool called iscorEB. iscorEB is a questionnaire that captures information from you and your doctor about your EB. A tool like this will be able to measure if your EB is getting better or worse - either due to treatment or time. If iscorEB works, it could be used to study treatments for EB in the future.
In this research study, you would be required to travel to Aurora (just outside of Denver) to participate in a full-day clinical evaluation session. At this session, iscorEB will be tested by a team of EB doctors and by patients with EB. iscorEB will also be compared to similar tools that have been studied before. This process will allow us to determine if iscorEB is a good tool and to change it if necessary. The evaluation session is tentatively scheduled to occur in Colorado on Saturday August 23, 2014.
This study is funded by grants from the Jackson Gabriel Silver Foundation (awarded to the University of Colorado) and the Epidermolysis Bullosa Medical Research Foundation (awarded to The Hospital for Sick Children, Toronto).
If you would like to hear more information about participating in this research study, please let us know by contacting the study coordinator, Jennifer Sternberg, at firstname.lastname@example.org or 720-777-5717. We would be delighted to discuss this in more detail.
FCX-007 Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa
Fibrocell, an autologous cell and gene therapy company focused on developing transformational therapies for diseases affecting the skin, will work with its partner Intrexon, to lead an open label Phase I/II trial starting in the second quarter of 2016.
The primary objective of this trial will be to evaluate the safety of FCX-007 in RDEB subjects. Additionally, the trial will evaluate type VII collagen expression and the presence of anchoring fibrils resulting from FCX-007, as well evidence of wound healing. Six adult subjects are expected to be treated with FCX-007 in the Phase I portion of the trial and six pediatric subjects in the Phase II portion of the trial. Prior to conducting studies on pediatric subjects, Fibrocell is required to obtain allowance from the FDA and submit evidence of FCX-007 activity in adult subjects and final data from its ongoing toxicology study.
FCX-007 is Fibrocell's novel gene-therapy product candidate for the treatment of recessive dystrophic epidermolysis bullosa (RDEB), a congenital and progressive orphan skin disease caused by the deficiency of the protein type VII collagen (COL7). FCX-007 is a genetically-modified autologous fibroblast that encodes COL7 and is being developed in collaboration with Intrexon. By genetically modifying autologous fibroblasts, ex vivo, to produce COL7, culturing them and then treating blisters and wounds locally via injection, FCX-007 offers the potential to address the underlying cause of the disease by providing high levels of COL7 directly to the affected areas, thereby avoiding systemic treatment.
Information about the Clinical Trial is here.
Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients.
Information about the Clinical Trial is here