Methodology Study of Retroviral Insertion Site Analysis in Strimvelis Gene Therapy

Fondazione Telethon15 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Severe Combined Immunodeficiency Due to ADA Deficiency

Interventions

StrimvelisGENETIC

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.

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria 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:: 1. Peripheral blood, bone marrow, or DNA extracted from either source. 2. Taken at least 6 months after gRV-GT. 3. Stored at -20oC or below since the time of sampling. 4. Likely to provide at least 1.5 μg of DNA (following extraction by the central laboratory). Exclusion Criteria N/A

Locations (1)

Ospedale San Raffaele

Milan, Italy

Outcomes

Primary Outcomes

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.

Data from ClinicalTrials.gov

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