An observational study in Severe Combined Immunodeficiency Due to ADA Deficiency, sponsored by Fondazione Telethon. Active, not recruiting at 1 site in Italy. Per ClinicalTrials.gov, last updated 2024-01-29.
Sponsored by Fondazione Telethon · Observational
This study is a post approval commitment to evaluate the accuracy and precision of retroviral insertion site (RIS) analysis and its utility for investigating and predicting the potential for insertional oncogenesis in subjects treated with Strimvelis.
This non-interventional, retrospective, methodology study will use peripheral blood and bone marrow samples previously taken from subjects treated with Strimvelis. The study does not require subjects to undergo any further treatment, intervention or blood withdrawal.
The objective of this methodology study is to evaluate the accuracy and precision of shearing extension primer tag selection ligation-mediated polymerase chain reaction (S-EPTS/LM-PCR) for RIS analysis and its utility for investigating and predicting the potential for insertional oncogenesis in subjects previously treated with Strimvelis for severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency.
64 studies on the registry are indexed under Severe Combined Immunodeficiency; 15 are open to participants now.
This study's planned enrollment of 15 is below the median of 70 across 21 observational studies indexed under Severe Combined Immunodeficiency.
Browse Severe Combined Immunodeficiency studies →Fondazione Telethon is the lead sponsor of 12 studies on the registry; 3 are open to participants now.
Counted across the registry records on this site, refreshed daily.
This study will use biological samples previously taken from subjects treated with Strimvelis gRV-GT.
Subjects must have previously received treatment with gRV-GT, either during clinical development (clinical trials and early access programs) or in the post-marketing setting as the approved product (Strimvelis) or under hospital exemption, and for whom at least one biological sample is available that meets the following eligibility criteria::
Exclusion Criteria N/A
It is expected that this study will include approximately 70 eligible samples from approximately 15 subjects previously treated with gamma retroviral gene therapy (gRV-GT).
Genetic: Strimvelis
This non-interventional, retrospective, methodology study will use peripheral blood and bone marrow samples previously taken from subjects treated with gRV-GT. The study does not require subjects to undergo any further treatment, intervention or blood withdrawal. Eligible samples will be shipped to a central laboratory and will undergo DNA extraction prior to S-EPTS/LM-PCR analysis. Each analysis run will include a control DNA sample and up to four subject samples. Each sample will be analysed in triplicate.
To assess the precision of S-EPTS/LM-PCR methodology for RIS analysis using control insertion site DNA
Precision will be determined by the variability (%CV) of the abundance data.
Time frame: Retrospective sample analysis.
To assess the accuracy of S-EPTS/LM-PCR methodology for RIS using control insertion site DNA
Accuracy will be determined based on the difference between the mean retrieved abundance and the expected abundance of control DNA.
Time frame: Retrospective sample analysis.
Plan to share: No
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This study is active, not recruiting, as verified in Jan 2024. You cannot join it, but the record below documents what was studied.
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Severe Combined Immunodeficiency→
Fondazione Telethon