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| Name | Class |
|---|---|
| California Institute for Regenerative Medicine (CIRM) | OTHER |
| Cystinosis Research Foundation | OTHER |
| Novartis Pharmaceuticals | INDUSTRY |
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This is a multinational, long-term follow-up study to assess the long-term safety and durability of CTNS-RD-04 treatment in participants who received a single dose administration of lentiviral gene therapy. No investigational product will be administered in this study. Participants will continue periodic safety and efficacy assessments in this long-term follow-up study up to 15 years from the initial date of CTNS-RD-04 infusion.
Participants enrolled in a study where the individual received CTNS-RD-04 will be offered participation in the CTNS-RD-04-LTF01 study. The Baseline visit for the CTNS-RD-04-LTF01 study will likely coincide with the final visit in the parent study. Participants confirmed eligible for the CTNS-RD-04-LTF01 study will be asked to return for study visits at approximately 6-month intervals for the first 4 years and annually thereafter for up to 11 years until a total of 15 years have elapsed during which time continued safety, engraftment, and efficacy of CTNS-RD-04 treatment will be assessed.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Participants with Cystinosis Disease | This is a long-term follow-up study of participants who previously received CTNS-RD-04 (single dose administration). No investigational product will be administered in this study. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Safety and Efficacy Assessments | Other | Safety evaluations, disease-specific assessments, and other assessments to monitor for long-term complications of gene therapy intervention. |
| Measure | Description | Time Frame |
|---|---|---|
| Incidence of clinically significant Adverse Events (AEs) and Serious Adverse Events (SAEs) | Baseline to Year 15 post gene therapy | |
| Number of participants with clinically relevant abnormalities, as assessed by vital sign (heart rate, pulse rate, and temperature) | Baseline to Year 15 post gene therapy | |
| Number of participants with clinically relevant abnormalities, as assessed by clinical laboratory tests (chemistry and hematology) | Baseline to Year 15 post gene therapy | |
| Number of participants with clinically relevant abnormalities, as assessed by by electrocardiograms (ECGs) (rate, rhythm, intervals) | Baseline to Year 15 post gene therapy |
| Measure | Description | Time Frame |
|---|---|---|
| Change from baseline in Corneal cystine crystal score (CCCS) as assessed by in vivo confocal microscopy (IVCM) | Baseline to Year 15 post gene therapy | |
| Change from baseline in Renal glomerular and tubular functions measured by glomerular filtration rate (GFR) |
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Inclusion Criteria:
• Participant must have received CTNS-RD-04 in a preceding study
Exclusion Criteria:
• Participant is currently enrolled in an CTNS-RD-04 treatment study. Participants who have either completed, withdrawn, or prematurely discontinued participation for any reason at any time after receiving CTNS-RD-04 are eligible for CTNS RD 04 LTF01 study participation.
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Participants who received CTNS-RD-04 and agree to comply with the study visit schedule and procedures.
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| Name | Affiliation | Role |
|---|---|---|
| Stephanie Cherqui, PhD | University of California, San Diego | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California San Diego | La Jolla | California | 92037 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 23089735 | Result | Harrison F, Yeagy BA, Rocca CJ, Kohn DB, Salomon DR, Cherqui S. Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis. Mol Ther. 2013 Feb;21(2):433-44. doi: 10.1038/mt.2012.214. Epub 2012 Oct 23. | |
| 25186209 | Result | Naphade S, Sharma J, Gaide Chevronnay HP, Shook MA, Yeagy BA, Rocca CJ, Ur SN, Lau AJ, Courtoy PJ, Cherqui S. Brief reports: Lysosomal cross-correction by hematopoietic stem cell-derived macrophages via tunneling nanotubes. Stem Cells. 2015 Jan;33(1):301-9. doi: 10.1002/stem.1835. |
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| ID | Term |
|---|---|
| D003554 | Cystinosis |
| ID | Term |
|---|---|
| D016464 | Lysosomal Storage Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| ID | Term |
|---|---|
| D012449 | Safety |
| ID | Term |
|---|---|
| D000056 | Accident Prevention |
| D000059 | Accidents |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
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Blood, urine, bone marrow, and hair sample collections.
|
| Baseline to Year 15 post gene therapy |
| Change from baseline in vision function as assessed by ophthalmology exams | Baseline to Year 15 post gene therapy |
| Change from baseline in grip strength measured by dynamometry | Baseline to Year 15 post gene therapy |
| Change from baseline in respiratory function measured by spirometry | Baseline to Year 15 post gene therapy |
| Change from baseline in bone density assessed by dual-energy X-ray absorptiometry (DEXA) | Baseline to Year 15 post gene therapy |
| Change from baseline in muscle mass assessed by dual-energy X-ray absorptiometry (DEXA) | Baseline to Year 15 post gene therapy |
| Change from baseline in Endocrine function measured by fasting glucose, thyroid function, and gonadotropin levels | Baseline to Year 15 post gene therapy |
| Change from baseline in neurological function assessed by neurological exam (mental status, coordination, sensory, reflexes, and visual motor integration) | Baseline to Year 15 post gene therapy |
| Change from baseline in psychometric function assessed by neurological exam (memory, oromotor function, intelligence quotient (IQ)) | Baseline to Year 15 post gene therapy |
| Change from baseline in pill/injection count related to cystinosis treatment | Baseline to Year 15 post gene therapy |
| Change from baseline in Cystinosin (CTNS) as assessed by quantitative Polymerase Chain Reaction (qPCR) | Baseline to Year 15 post gene therapy |
| Change from baseline in mean Vector Copy Number (VCN) as assessed by quantitative Polymerase Chain Reaction (qPCR) | Baseline to Year 15 post gene therapy |
| Change from baseline in Cystine levels in leukocytes measured by mass spectrometry | Baseline to Year 15 post gene therapy |
| Change from baseline in ovarian reserve and menstrual cycle as assessed by anti-Müllerian hormone (AMH) and gynecology exams | Baseline to Year 15 post gene therapy |
| Change in male reproductive potential as assessed by urology exams (sperm count, motility, and morphology) | Baseline to Year 15 post gene therapy |
| Absence of Replication Competent Lentivirus (RCL) as assessed by Elisa assay | Baseline to Year 15 post gene therapy |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |