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Long-term Follow-up of Subjects Treated With OTL-300 for Transfusion Dependent Beta-thalassemia Study (TIGET-BTHAL)

Not Applicable
Active, not recruiting
Conditions
Beta Thalassaemia
Interventions
Other: Safety and Efficacy assessments
Registration Number
NCT03275051
Lead Sponsor
IRCCS San Raffaele
Brief Summary

OTL-300 is a gene therapy drug product consisting of autologous hematopoietic stem/progenitor cluster of differentiation (CD) 34+ cells genetically modified with a lentiviral vector (GLOBE) encoding the human beta globin gene. The TIGET-BTHAL is a phase I/II study evaluating safety and efficacy of OTL-300 in subjects with transfusion dependent beta-thalassemia for two years post gene-therapy. Subjects with rare disease who have undergone gene therapy are followed for efficacy and possible delayed adverse events. Thus, this study is designed to follow patients who have received gene therapy on TIGET-BTHAL for an additional six years (for a total of eight years).

Detailed Description

Not available

Recruitment & Eligibility

Status
ACTIVE_NOT_RECRUITING
Sex
All
Target Recruitment
9
Inclusion Criteria
  • Subjects who have completed study TIGET-BTHAL i.e. who have received treatment and been followed for two years post treatment with OTL-300.
  • For adults; capable of giving signed informed consent. For children; informed assent and/or consent in writing signed by the subject and/or parent(s) / legal representative (according to local regulations and age of the subject).
Exclusion Criteria
  • None

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
All subjectsSafety and Efficacy assessmentsSubjects who have received treatment with OTL-300 in and completed study TIGET-BTHAL will be included in this study. Subjects received OTL-300 injection administered intraosseously in TIGET-BTHAL study. No study treatment will be administered in this study (207757).
Primary Outcome Measures
NameTimeMethod
Number of subjects with absence of abnormal clonal proliferation (ACP)Up to 6 years

Clonal proliferation describes the selection and reproduction of only one type of cell.

Number of subjects with Polyclonal engraftmentUp to 6 years

Integration site analysis will be performed on different hematopoietic lineages from peripheral blood and/or bone marrow. Polyclonality of hematopoiesis is defined as \>1000 unique integration sites retrieved at specified time points. The number of subjects with polyclonality of hematopoiesis will be estimated.

Secondary Outcome Measures
NameTimeMethod
Hematology laboratory parameters as a measure of safetyUp to 6 years
Urinalysis as a measure of safetyUp to 6 years
Hemoglobin (Hb) levels in subjects achieving transfusion independenceUp to 6 years
Clinical chemistry laboratory parameters as a measure of safetyUp to 6 years
Number of subjects with adverse events (AEs), serious AEs (SAEs)Up to 6 years
Number of subjects with reduction in red blood cells (RBC) transfusion volumeUp to 6 years
Number of subjects with reduction in transfusion rate up to transfusion independenceUp to 6 years
Number of subjects with transfusion independenceUp to 6 years

Transfusion independence is defined as \<= 1 transfusion in the previous 6 months.

Number of subjects with sustained engraftment of genetically corrected cellsUp to 6 years

Engraftment will be assessed by vector-specific quantitative polymerase chain reaction (PCR) on bone marrow. Sustained engraftment is defined as \>=0.15 vector copy number (VCN)/genome in bone marrow erythroid cells.

Number of subjects with overall survivalUp to 6 years

The number of subjects alive over all the trial.

Occurrence of viral infections as a measure of safetyUp to 6 years

Microbiological laboratory tests will be performed to analyze the presence of hepatitis C virus ribonucleic acid (RNA), hepatitis B virus RNA, hepatitis B surface antigen, human T cell lymphotropic virus type 1-2 antibodies. Molecular tests will be performed for human immunodeficiency virus in peripheral blood or plasma.

Screening for occurrence of antibodies against viruses and toxoplasma as a measure of safetyUp to 6 years

Immunological laboratory tests will be performed to analyze antibodies to Epstein-Barr virus, cytomegalovirus, herpes simplex virus 1-2, varicella zoster virus, toxoplasma.

Functional assessment of cancer therapy-bone marrow transplant (FACT-BMT) scoresUp to 6 years
Short-Form-36 (SF-36) scoresUp to 6 years

Impact of disease on overall QoL in adults will be measured using the SF-36.

Pediatric Quality of Life (PedsQL) questionnaire scoresUp to 6 years

The PedsQL 4.0 generic core scale will be used to measure QoL in pediatric subjects.

Evaluation of growth in pediatric subjectsUp to 6 years

Growth will be assessed by changes in height versus national growth charts and predicted genetic height.

Assessment of hormonal levels in pediatric subjectsUp to 6 years
Changes in puberty status as assessed by clinical examinationUp to 6 years
Changes in puberty status as assessed by Tanner scale (TS)Up to 6 years

Puberty will be assessed using TS.

Changes in puberty status as assessed by general questioningUp to 6 years

Trial Locations

Locations (1)

Ospedale San Raffaele - Telethon Institute for Gene Therapy (OSR-TIGET)

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Milan, Italy

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