Retroviral Insertion Site Methodology Study

Fondazione Telethon

Status and phase: Withdrawn; Phase 4

Conditions: Immune System Diseases

Treatments: Genetic: Strimvelis

Study type: Interventional

Funder types: Other

Identifiers

NCT03311074

STRIM-002

Details and patient eligibility

About

Adenosine deaminase (ADA) is an enzyme involved in the development and functioning of the immune system. Deficiency of ADA results in severe combined immunodeficiency (SCID), a fatal inherited immune disorder. Strimvelis is a gene therapy that aims to insert ADA function into blood cells and halt or reverse the conditions caused by decreased ADA enzyme levels, such as impaired immune function. It is important to consider long term follow-up of patients who have received Strimvelis, including evaluation of the risk of insertion near certain genes that may lead to unexpected activation of those genes (oncogenesis). The objective of this study is to evaluate the use of a new technique to identify where Strimvelis has become inserted in the genetic sequence, and potential implications for patient care. This new technique is known as sonication linker mediated polymerase chain reaction (SLiM-PCR) for retroviral insertion site (RIS) analysis. The study will recruit at least 15 pediatric or adult patients with ADA-SCID who have been treated with Strimvelis, either in previous clinical trials or as a registered product. Recruitment for the study may remain open for up to 2 years even if 15 subjects are recruited sooner. Study participation will last for up to 5 years. A total of 5 blood samples will be collected from each subject at approximately annual intervals.

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Male or female, pediatric or adult, subjects with ADA-SCID, who have been previously treated with Strimvelis.
• Capable of giving signed informed consent or signed informed consent provided by the subject's parent or legal guardian.

Exclusion criteria

• Presence of concomitant condition(s) that in the Investigator's opinion makes participation in the study unsuitable or may prevent compliance with the protocol requirements.
• Unlikely to comply with the requirements of the protocol (i.e. attendance for blood sampling on an approximately annual basis).
• Transportation of viable samples to the European Union (EU) central laboratory from the subject's home country is not possible.

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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0 participants in 1 patient group

Strimvelis treatment receivers

Experimental group

Description:

Approximately 15 subjects with ADA-SCID who were previously received Strimvelis will be included in the analysis and a total of 5 blood samples will be collected from each subject at approximately annual interval.

Treatment:

Genetic: Strimvelis