Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1)
|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.|
|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|
|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 (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.
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
|Great Ormond Street Hospital for Children NHS Trust|
|London, United Kingdom, WC1N 3JH|