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

Conditions
Cystinosis
Interventions
Other: Safety and Efficacy Assessments
Registration Number
NCT05146830
Lead Sponsor
Stephanie Cherqui
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.

Recruitment & Eligibility

Status
ENROLLING_BY_INVITATION
Sex
All
Target Recruitment
50
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 Participants who have either completed, withdrawn, or prematurely discontinued participation for any reason at any time after receiving CTNS-RD-04 are eligible for CTNS RD 04 LTF01 study participation.

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
Participants with Cystinosis DiseaseSafety and Efficacy AssessmentsThis 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.
Primary Outcome Measures
NameTimeMethod
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 by electrocardiograms (ECGs) (rate, rhythm, intervals)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
Secondary Outcome Measures
NameTimeMethod
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 Cystine levels in leukocytes measured by mass spectrometryBaseline to Year 15 post gene therapy
Change from baseline in ovarian reserve and menstrual cycle as assessed by anti-Müllerian hormone (AMH) and gynecology examsBaseline 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
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 respiratory function measured by spirometryBaseline 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 mean Vector Copy Number (VCN) as assessed by quantitative Polymerase Chain Reaction (qPCR)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 vision function as assessed by ophthalmology examsBaseline to Year 15 post gene therapy
Change from baseline in Endocrine function measured by fasting glucose, thyroid function, and gonadotropin levelsBaseline to Year 15 post gene therapy
Change from baseline in grip strength measured by dynamometryBaseline 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
Absence of Replication Competent Lentivirus (RCL) as assessed by Elisa assayBaseline 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 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 treatmentBaseline to Year 15 post gene therapy

Trial Locations

Locations (1)

University of California San Diego

🇺🇸

La Jolla, California, United States

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