UMC Groningen part of research: to recruit patients with Dystrophic Epidermolysis Bullosa, in order to harvest keratinocytes for defining several characteristics of the EB population: antibodies to type VII collagen, presence of type VII NC1 domain…
ID
Source
Brief title
Condition
- Skin and subcutaneous tissue disorders congenital
- Epidermal and dermal conditions
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
This study is to determine characteristics of a specific population and to
obtain tissue for research purposes. Subject*s participation will end once all
study-related procedures are completed.
See Certification of Human Subjects Approvals, to Alfred T. Lane, MD,
Dermatology Stanford University California USA, approved 11/10/2009 and CIRM
Disease Team Award Research Proposal, Application number DR1-01454
Secondary outcome
Not applicable.
Background summary
Rationale:
Epidermolysis Bullosa (EB) is a complex family of inherited blistering skin
disorders that share abnormalities of the cutaneous basement membrane zone.
Children with one subtype lacking normal collagen VII (COL7A1) develop a
severe, scarring phenotype called recessive dystrophic epidermolysis bullosa
(RDEB). More commonly, patients with the dominant-negative form of collagen VII
deficiency, called Dominant Dystrophic Epidermolysis Bullosa (DDEB), develop
debilitating blisters and ulcers. Untill now, current therapy for DDEB and RDEB
is limited to palliative woundcare.
Goal is to screen subjects with DEB and evaluate the characteristics of the
subjects and their cells in order to develop new strategies of therapy. The
final goal is to develop a curative treatment for patients with DDEB and RDEB.
Study objective
UMC Groningen part of research: to recruit patients with Dystrophic
Epidermolysis Bullosa, in order to harvest keratinocytes for defining several
characteristics of the EB population: antibodies to type VII collagen, presence
of type VII NC1 domain, incidence of comorbidity, routine laboratory values of
this population, accuracy of earlier clinical or biopsy based diagnosis and
specific mutation identification from the genetic testing results.
Aim is to use skin cells from the skinbiopsies for use in reprogramming the
somatic cells into genetically-corrected iPS cells. This research may be
helpful in elucidationg a future treatment for EB.
Study design
Pre-clinical study, exploring the skin cells of a group of 20 adult Dutch DEB -
patients, one visit research.
Study burden and risks
Burden and risks:
Burden is minimal and risks are low.
Burden:
- one visit EB-consultation UMC Groningen
- 2 skinbiopsies 6 mm; taking skinbiopsies (local anesthesia) may give some
pain;
- photographs of skin
- physical skin examination
Risks:
- after biopsies, the skin may show skin infection (<1%); this is easy to treat
with antibiotic ointments and wound dressings the patients are used to.
This trial will characterize a subset of subjects with DEB. This will not
provide a direct benefit to these patients, but may prove beneficial to the
patient him/herself and to the research community: the results of this research
gives knowledge about a possible therapy, that is: corrected autologous
epidermal sheets. Because current therapy for DEB is limited to palliative
wound care, the benefit generated by this therapy would be immense.
Hanzeplein 1
9700 RB Groningen
NL
Hanzeplein 1
9700 RB Groningen
NL
Listed location countries
Age
Inclusion criteria
1: clinical diagnosis DEB (via IF, EM and DNA)
2: age: 18-85 years
3: except from DEB: good health
4: possibility of adequate communication
5: living in the Netherlands or Belgium (concerning travelling time to UMC Groningen)
Exclusion criteria
1: minors < 18 y
2: not able to communicate
3: medical instability or limiting ability to travel to UMC Groningen
4: DEB affected patients with co morbidity
5: incapacitated adults
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| ClinicalTrials.gov | NCTnumber:01019148 |
| CCMO | NL32561.042.10 |