Cystinosis
Conditions
Keywords
Cystinosis Disease, Cell therapy, Gene therapy, Long-term follow-up
Brief summary
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.
Detailed description
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.
Interventions
Safety evaluations, disease-specific assessments, and other assessments to monitor for long-term complications of gene therapy intervention.
Sponsors
California Institute for Regenerative Medicine (CIRM)
Cystinosis Research Foundation
Novartis Pharmaceuticals
Stephanie Cherqui
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
14 Years to 50 Years
Healthy volunteers
No
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 Participants who have either completed, withdrawn, or prematurely discontinued participation for any reason at any time after receiving CTNS-RD-04 are eligible for CTNS RD 04 LTF01 study participation.
Design outcomes
Primary
| Measure | 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 |
Secondary
| Measure | Time frame |
|---|---|
| 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 Corneal cystine crystal score (CCCS) as assessed by in vivo confocal microscopy (IVCM) | 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 |
| Change from baseline in pill/injection count related to cystinosis treatment | Baseline to Year 15 post gene therapy |
| Change from baseline in Renal glomerular and tubular functions measured by glomerular filtration rate (GFR) | 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 |
Countries
United States
Outcome results
None listed