Methodology Study of Retroviral Insertion Site Analysis in Strimvelis Gene Therapy

Methodology Study to Investigate the Utility of Retroviral Insertion Site Analysis in Samples From Subjects Treated With Strimvelis Gene Therapy.

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04959890

Enrollment

Registered

2021-07-13

Start date

2021-04-23

Completion date

2024-03-31

Last updated

2024-01-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Severe Combined Immunodeficiency Due to ADA Deficiency

Keywords

ada-scid, retroviral vector, gene therapy

Brief summary

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.

Detailed description

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.

Interventions

GENETICStrimvelis

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.

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
To assess the precision of S-EPTS/LM-PCR methodology for RIS analysis using control insertion site DNA	Retrospective sample analysis.	Precision will be determined by the variability (%CV) of the abundance data.
To assess the accuracy of S-EPTS/LM-PCR methodology for RIS using control insertion site DNA	Retrospective sample analysis.	Accuracy will be determined based on the difference between the mean retrieved abundance and the expected abundance of control DNA.

Countries

Italy

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026