A clinical trial to study the effects of genetically modified patients' skin stem cells
Phase 1
- Conditions
- etherton Syndrome (NS)MedDRA version: 14.1 Level: PT Classification code 10062909 Term: Netherton's syndrome System Organ Class: 10010331 - Congenital, familial and genetic disordersTherapeutic area: Diseases [C] - Skin and Connective Tissue Diseases [C17]
- Registration Number
- EUCTR2011-003212-22-GB
- Lead Sponsor
- GOSH/ICH Joint Research & Development Office
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Recruiting
- Sex
- Not specified
- Target Recruitment
- 5
Inclusion Criteria
1. Confirmed SPINK5 mutations in both alleles by direct DNA sequencing
2. Absence of LEKTI protein expression in the skin by in situ immunostaining
3. Patient informed consent, or parental/guardian consent in the case of minor
participant
Are the trial subjects under 18? yes
Number of subjects for this age range: 2
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 3
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range 0
Exclusion Criteria
1. History of skin malignancy or evidence of current active malignant skin disease
2. Pregnancy
3. Hepatitis A, B, C or HIV positive
4. Current antibiotic resistant bacterial colonisation
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <br> Main Objective: (1) Generation of SPINK5 gene modified keratinocytes (including keratinocyte stem cells)(self-renewing cells) from patients with Netherton Syndrome<br><br> (2) Generation of epithelial sheets for auto-grafting (tissue transplant from one part of the body to another in same individual) using gene corrected keratinocyte stem cells<br><br> (3) Grafting of gene corrected epithelial sheets onto patients with Netherton Syndrome<br><br> (4) To examine long-term safety and efficacy of the treatment<br> ;Secondary Objective: Not applicable;<br> Primary end point(s): 1. Safety of gene modified grafts<br> 2. Histological evidence of correction of graft skin architecture<br> ;Timepoint(s) of evaluation of this end point: The study endpoint will be 12 months after grafting of genetically modified skin grafts.
- Secondary Outcome Measures
Name Time Method <br> Secondary end point(s): 1. Correction of skin outside the graft area<br> 2. Detection of immune responses to the graft/transgene<br> ;Timepoint(s) of evaluation of this end point: Not applicable.