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

Phase I study of ex-vivo lentiviral gene therapy for the inherited skin disease Netherton Syndrome - Gene Therapy for Netherton Syndrome

Status

Active, not recruiting

Phases

Phase 1

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2011-003212-22-GB

Enrollment

Registered

2013-03-08

Start date

2013-06-03

Completion date

Unknown

Last updated

2019-06-30

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

Interventions

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

Eligibility

Sex/Gender

All

Inclusion 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

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

Design outcomes

Primary

Measure	Time frame
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; Primary end point(s): 1. Safety of gene modified grafts 2. Histological evidence of correction of graft skin architecture ;Timepoint(s) of evaluation of this end point: The study endpoint will be 12 months after grafting of genetically modified skin grafts.	—

Measure

Time frame

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; Primary end point(s): 1. Safety of gene modified grafts 2. Histological evidence of correction of graft skin architecture ;Timepoint(s) of evaluation of this end point: The study endpoint will be 12 months after grafting of genetically modified skin grafts.

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Secondary

Measure	Time frame
Secondary end point(s): 1. Correction of skin outside the graft area 2. Detection of immune responses to the graft/transgene ;Timepoint(s) of evaluation of this end point: Not applicable.	—

Countries

United Kingdom

Contacts

Public ContactAnne-Marie McNicol

UCL Institute of Child Health

anne-marie.mcnicol@ucl.ac.uk02079052292

Outcome results

None listed

Source: EU CTR (via WHO ICTRP) · Data processed: Feb 4, 2026