Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1)
|ClinicalTrials.gov Identifier: NCT01175239|
Recruitment Status : Active, not recruiting
First Posted : August 4, 2010
Last Update Posted : August 1, 2017
|Condition or disease||Intervention/treatment||Phase|
|X-linked Severe Combined Immunodeficiency||Genetic: Single infusion of autologous CD34+ cells transduced with the self-inactivating (SIN) gammaretroviral vector pSRS11.EFS.IL2RG.pre||Not Applicable|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||1 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Gene Therapy for SCID-X1 Using a Self-inactivating (SIN) Gammaretroviral Vector|
|Study Start Date :||April 2011|
|Estimated Primary Completion Date :||December 2018|
|Estimated Study Completion Date :||December 2018|
|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
- 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.
- 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.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01175239
|Great Ormond Street Hospital for Children NHS Trust|
|London, United Kingdom, WC1N 3JH|