A Phase 4 interventional study of Strimvelis in Immune System Diseases, sponsored by Fondazione Telethon. Withdrawn. Per ClinicalTrials.gov, last updated 2024-01-29.
Sponsored by Fondazione Telethon · Phase 4, Interventional, and Basic science
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.
427 studies on the registry are indexed under Immune System Diseases; 86 are open to participants now.
Browse Immune System Diseases studies →Fondazione Telethon is the lead sponsor of 12 studies on the registry; 3 are open to participants now.
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Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Genetic: Strimvelis
Strimvelis is a gene therapy that aims to restore ADA function in hematopoietic cell lineages and prevent the immunological manifestations. Strimvelis is a cluster of differentiation (CD) 34+ cell enriched dispersion of human bone marrow derived hematopoietic stem cells for infusion which have been transduced with a retroviral vector containing the human ADA gene.
Mean abundance measurement
The accuracy and precision of SLiM-PCR methodology will be assessed using whole blood samples, taken from subjects treated with Strimvelis, spiked with control insertion site deoxyribonucleic acid (DNA). The mean abundance will be calculated between subjects at every time point, within subjects over time points and between the same sample within a time point within a subject.
Time frame: Up to 5 years
Coefficient of variation measurement
The accuracy and precision of SLiM-PCR methodology will be assessed using whole blood samples, taken from subjects treated with Strimvelis, spiked with control insertion site DNA. The coefficient of variation will be calculated between subjects at every time point, within subjects over time points and between the same sample within a time point within a subject.
Time frame: Up to 5 years
Measurement of clone abundance of more than 5 percent
Abundance of clones in subject's samples will be measured by SLiM-PCR, where abundance estimates will be derived from the number of individual sheared DNA fragments and the number of DNA barcodes in the linker sequences.
Time frame: Up to 5 years
Shannon diversity index measurement
The Shannon diversity index is an index that is commonly used to characterize species diversity in a community. The diversity of the clones in subject's samples will be determined using Shannon diversity. Shannon diversity index will be summarized using mean and coefficient of variation.
Time frame: Up to 5 years
No study locations are listed for this record.
Ran from Jun 2020 to primary completion in Jul 2020, 0 months.
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This study is withdrawn, as verified in Nov 2023. You cannot join it, but the record below documents what was studied.
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Fondazione Telethon