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Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1)

This study is ongoing, but not recruiting participants.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01175239
First Posted: August 4, 2010
Last Update Posted: August 1, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Great Ormond Street Hospital for Children NHS Foundation Trust
July 29, 2010
August 4, 2010
August 1, 2017
April 2011
December 2018   (Final data collection date for primary outcome measure)
Immunological reconstitution [ Time Frame: 1-18 months post-infusion,then annually ]
  • Immunophenotyping: detection of naïve CD3+ T-cell numbers, CD4, CD8, TCRαβ, TCRγδ, CD16+CD56+ NK & gamma chain expression. TRECs may be enumerated as surrogate marker for new thymic emigrants post-gene therapy
  • Lymphocyte proliferation assays to test function of T cells
  • Representation of TCR families by flow cytometry (Vβ phenotyping), & CDR3 PCR spectratyping (Vβ spectratyping) to monitor physiological & potentially pathological clonal expansions
  • Restoration of antibody production (IgA, IgM, IgG) & serological responses to vaccinations & natural infections.
Immunological reconstitution [ Time Frame: Patients will be monitored according to protocol at 1, 3, 6, 9, 12, 18 months post-infusion, then annually from 2-5 years. Follow-up as part of the routine clinical care of post-transplant patients will be annual after this. ]
  • Immunophenotyping: detection of naïve CD3+ T-cell numbers, CD4, CD8, TCRαβ, TCRγδ, CD16+CD56+ NK & gamma chain expression. TRECs may be enumerated as surrogate marker for new thymic emigrants post-gene therapy
  • Lymphocyte proliferation assays to test function of T cells
  • Representation of TCR families by flow cytometry (Vβ phenotyping), & CDR3 PCR spectratyping (Vβ spectratyping) to monitor physiological & potentially pathological clonal expansions
  • Restoration of antibody production (IgA, IgM, IgG) & serological responses to vaccinations & natural infections
Complete list of historical versions of study NCT01175239 on ClinicalTrials.gov Archive Site
  • Incidence of adverse reactions [ Time Frame: from consent until 5 years post-infusion of gene-modified cells ]

    At each scheduled visit, adverse events that might have occurred since the previous visit or assessment will be elicited from the patient/parent/guardian.

    The investigators will maintain a record of all adverse events/occurrences in patients participating in the clinical trial. This record will be noted in the patient's medical notes.

    Adverse events that have a causal relationship to the IMP (ARs) and SAEs will be recorded on the AE reporting section of the CRF.

  • Molecular characterisation of gene transfer [ Time Frame: until 5 years post-infusion of gene-modified cells ]
    Quantification of transgene copy numbers is determined on sorted cell populations by real-time PCR methodology. Detailed integration analysis may be used to investigate specific clonal expansions.
  • Normalisation of nutritional status, growth, and development [ Time Frame: until 5 years post-infusion of gene-modified cells ]
    Normalisation of nutritional status, growth, and development will be assessed at each follow-up visit by the investigator through clinical examinations.
Same as current
Not Provided
Not Provided
 
Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1)
Gene Therapy for SCID-X1 Using a Self-inactivating (SIN) Gammaretroviral Vector
X-linked severe combined immunodeficiency (SCID-X1) is an inherited disorder that results in failure of development of the immune system in boys. This trial aims to treat SCID-X1 patients using gene therapy to replace the defective gene.
Not Provided
Interventional
Not Provided
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
X-linked Severe Combined Immunodeficiency
Genetic: Single infusion of autologous CD34+ cells transduced with the self-inactivating (SIN) gammaretroviral vector pSRS11.EFS.IL2RG.pre
Single infusion of autologous CD34+ cells transduced with the self-inactivating (SIN) gammaretroviral vector pSRS11.EFS.IL2RG.pre
Experimental: Single infusion of autologous CD34+ cells
Intervention: Genetic: Single infusion of autologous CD34+ cells transduced with the self-inactivating (SIN) gammaretroviral vector pSRS11.EFS.IL2RG.pre

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Active, not recruiting
1
December 2018
December 2018   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  1. No HLA identical (A,B,C,DR,DQ) family donor and no HLA identical unrelated donor available within 3 months of diagnosis or patients whose underlying clinical problems and prognosis would be significantly compromised by chemotherapy conditioning (including persisting pneumonitis, protracted diarrhoea requiring parental nutrition, ongoing visceral viral infection (herpes viruses, HSV,VZV,CMV, EBV or adenovirus), systemic BCG infection, virus-induced lymphoproliferation.
  2. Diagnosis of classical SCID-X1 based on immunophenotype (absent, or reduced numbers of non-functional T lymphocytes) and confirmed by DNA sequencing
  3. Parental/guardian voluntary consent
  4. Boys between the ages of 0 and 16
Sexes Eligible for Study: Male
up to 16 Years   (Child)
No
Contact information is only displayed when the study is recruiting subjects
United Kingdom
 
 
NCT01175239
06MI10
No
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Not Provided
Great Ormond Street Hospital for Children NHS Foundation Trust
Great Ormond Street Hospital for Children NHS Foundation Trust
Not Provided
Not Provided
Great Ormond Street Hospital for Children NHS Foundation Trust
October 2016

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP