Methodology Study of Retroviral Insertion Site Analysis in Strimvelis Gene Therapy

Active, not recruiting

• Conditions: Severe Combined Immunodeficiency Due to ADA Deficiency
• Interventions: Genetic: Strimvelis

• Registration Number: NCT04959890
• Lead Sponsor: Fondazione Telethon

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.

Study Timeline

• Study Start: 2021-04-23
• Study First Submitted: 2021-06-21
• Study First Submitted QC: 2021-07-12
• Study First Posted: 2021-07-13
• Status Verified: 2024-01
• Last Update Submitted: 2024-01-26
• Last Update Posted: 2024-01-29
• Primary Completion: 2024-03-31
• Study Completion: 2024-03-31

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 15

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Subjects Previously Treated with Strimvelis (or GSK2696273) Gene Therapy	Strimvelis	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).

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Ospedale San Raffaele; 🇮🇹 Milan, Italy