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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
  Purpose
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.

Condition Intervention
X-linked Severe Combined Immunodeficiency Genetic: Single infusion of autologous CD34+ cells transduced with the self-inactivating (SIN) gammaretroviral vector pSRS11.EFS.IL2RG.pre

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Gene Therapy for SCID-X1 Using a Self-inactivating (SIN) Gammaretroviral Vector

Resource links provided by NLM:


Further study details as provided by Great Ormond Street Hospital for Children NHS Foundation Trust:

Primary Outcome Measures:
  • 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.


Secondary Outcome Measures:
  • 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.


Enrollment: 1
Study Start Date: April 2011
Estimated Study Completion Date: December 2018
Estimated Primary Completion Date: December 2018 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Single infusion of autologous CD34+ cells 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

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 16 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Criteria

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
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01175239


Locations
United Kingdom
Great Ormond Street Hospital for Children NHS Trust
London, United Kingdom, WC1N 3JH
Sponsors and Collaborators
Great Ormond Street Hospital for Children NHS Foundation Trust
  More Information

Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Great Ormond Street Hospital for Children NHS Foundation Trust
ClinicalTrials.gov Identifier: NCT01175239     History of Changes
Other Study ID Numbers: 06MI10
First Submitted: July 29, 2010
First Posted: August 4, 2010
Last Update Posted: August 1, 2017
Last Verified: October 2016

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Great Ormond Street Hospital for Children NHS Foundation Trust:
X-linked severe combined immunodeficiency, gene therapy
Patients will be enrolled following diagnosis and referral to Great Ormond Street Immunology Service.

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Severe Combined Immunodeficiency
X-Linked Combined Immunodeficiency Diseases
Immune System Diseases
Infant, Newborn, Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn


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