A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04

Overview

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

• Other Safety and Efficacy Assessments
  Safety evaluations, disease-specific assessments, and other assessments to monitor for long-term complications of gene therapy intervention.

Primary outcome measures

• Incidence of clinically significant Adverse Events (AEs) and Serious Adverse Events (SAEs) [Time frame: 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) [Time frame: Baseline to Year 15 post gene therapy]
• Number of participants with clinically relevant abnormalities, as assessed by clinical laboratory tests (chemistry and hematology) [Time frame: Baseline to Year 15 post gene therapy]
• Number of participants with clinically relevant abnormalities, as assessed by by electrocardiograms (ECGs) (rate, rhythm, intervals) [Time frame: Baseline to Year 15 post gene therapy]

Secondary outcome measures (12)

• Change from baseline in Corneal cystine crystal score (CCCS) as assessed by in vivo confocal microscopy (IVCM) [Time frame: Baseline to Year 15 post gene therapy]
• Change from baseline in Renal glomerular and tubular functions measured by glomerular filtration rate (GFR) [Time frame: Baseline to Year 15 post gene therapy]
• Change from baseline in vision function as assessed by ophthalmology exams [Time frame: Baseline to Year 15 post gene therapy]
• Change from baseline in grip strength measured by dynamometry [Time frame: Baseline to Year 15 post gene therapy]
• Change from baseline in respiratory function measured by spirometry [Time frame: Baseline to Year 15 post gene therapy]
• Change from baseline in bone density assessed by dual-energy X-ray absorptiometry (DEXA) [Time frame: Baseline to Year 15 post gene therapy]
• Change from baseline in muscle mass assessed by dual-energy X-ray absorptiometry (DEXA) [Time frame: Baseline to Year 15 post gene therapy]
• Change from baseline in Endocrine function measured by fasting glucose, thyroid function, and gonadotropin levels [Time frame: 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) [Time frame: Baseline to Year 15 post gene therapy]
• Change from baseline in psychometric function assessed by neurological exam (memory, oromotor function, intelligence quotient (IQ)) [Time frame: Baseline to Year 15 post gene therapy]
• Change from baseline in pill/injection count related to cystinosis treatment [Time frame: Baseline to Year 15 post gene therapy]
• Change from baseline in Cystinosin (CTNS) as assessed by quantitative Polymerase Chain Reaction (qPCR) [Time frame: Baseline to Year 15 post gene therapy]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model

Cohort

Study locations

United States · 1 center

• University of California San Diego — La Jolla

Publications

• 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. PMID 23089735
• 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. PMID 25186209

Identifiers

NCT: NCT05146830 · CTNS-RD-04-LTFU01

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗