A clinical trial to study the effects of genetically modified patients' skin stem cells

• Register: EUCTR
• Last refreshed on: 30 June 2019
• Main ID: EUCTR2011-003212-22-GB
• Date of registration: 08/03/2013
• Prospective Registration: Yes
• Primary sponsor: GOSH/ICH Joint Research & Development Office
• Public title: A clinical trial to study the effects of genetically modified patients' skin stem cells
• Scientific title: Phase I study of ex-vivo lentiviral gene therapy for the inherited skin disease Netherton Syndrome - Gene Therapy for Netherton Syndrome
• Date of first enrolment: 03/06/2013
• Target sample size: 5
• Recruitment status: Not Recruiting
• URL: https://www.clinicaltrialsregister.eu/ctr-search/search?query=eudract_number:2011-003212-22
• Study type: Interventional clinical trial of medicinal product
• Study design: Controlled: no; Randomised: no; Open: no; Single blind: no; Double blind: no; Parallel group: no; Cross over: no; Other: no; If controlled, specify comparator, Other Medicinial Product: Placebo: Other:
• Phase: Human pharmacology (Phase I): yes Therapeutic exploratory (Phase II): no Therapeutic confirmatory - (Phase III): no Therapeutic use (Phase IV): no

Countries of recruitment

United Kingdom

Contacts

• Name: Anne-Marie McNicol
• Affiliation: UCL Institute of Child Health

• Name: Anne-Marie McNicol
• Affiliation: UCL Institute of Child Health

Key inclusion & exclusion criteria

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


Age minimum:
Age maximum:
Gender:
Female: yes
Male: yes

Health Condition(s) or Problem(s) studied

Therapeutic area: Diseases [C] - Skin and Connective Tissue Diseases [C17]

Netherton Syndrome (NS)
MedDRA version: 14.1 Level: PT Classification code 10062909 Term: Netherton's syndrome System Organ Class: 10010331 - Congenital, familial and genetic disorders

Intervention(s)

Product Name: Epithelial sheet generated from transduced autologous keratinocytes using pCCL-INVO-SP
Pharmaceutical Form:
INN or Proposed INN: epithelial sheet generated from transduced autologous keratinocytes using pCCL-INVO-SP

Primary Outcome(s)

Main Objective: (1) Generation of SPINK5 gene modified keratinocytes (including keratinocyte stem cells)(self-renewing cells) from patients with Netherton Syndrome

(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

(3) Grafting of gene corrected epithelial sheets onto patients with Netherton Syndrome

(4) To examine long-term safety and efficacy of the treatment

Secondary Objective: Not applicable

Timepoint(s) of evaluation of this end point: The study endpoint will be 12 months after grafting of genetically modified skin grafts.

Primary end point(s): 1. Safety of gene modified grafts
2. Histological evidence of correction of graft skin architecture

Secondary Outcome(s)

Timepoint(s) of evaluation of this end point: Not applicable.

Secondary end point(s): 1. Correction of skin outside the graft area
2. Detection of immune responses to the graft/transgene

Secondary ID(s)

10MI30

Source(s) of Monetary Support

Moulton Charitable Foundation

Ethics review

Status: Approved
Approval date:
Contact: