Skip to main content
OpenTrials
Enrolling by Invitation

NCT Number: NCT05146830

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

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.

Enrolling by Invitation

Interested in participating?

Request Info

Key information

Conditions

Cystinosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Age range

14 year–50 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University of California San Diego

La Jolla, California, 92037, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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 Participants who have either completed, withdrawn, or prematurely discontinued participation for any reason at any time after receiving CTNS-RD-04 are eligible for CTNS RD 04 LTF01 study participation.

Treatment and study plan

Safety and efficacy assessments

Other

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

Other names: Gene Therapy Intervention

Primary outcomes

  1. Incidence of clinically significant Adverse Events (AEs) and Serious Adverse Events (SAEs)

    Time frame: Baseline to Year 15 post gene therapy

  2. 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

  3. 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

  4. 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 outcomes

  1. 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

  2. Change from baseline in Renal glomerular and tubular functions measured by glomerular filtration rate (GFR)

    Time frame: Baseline to Year 15 post gene therapy

  3. Change from baseline in vision function as assessed by ophthalmology exams

    Time frame: Baseline to Year 15 post gene therapy

  4. Change from baseline in grip strength measured by dynamometry

    Time frame: Baseline to Year 15 post gene therapy

  5. Change from baseline in respiratory function measured by spirometry

    Time frame: Baseline to Year 15 post gene therapy

  6. Change from baseline in bone density assessed by dual-energy X-ray absorptiometry (DEXA)

    Time frame: Baseline to Year 15 post gene therapy

  7. Change from baseline in muscle mass assessed by dual-energy X-ray absorptiometry (DEXA)

    Time frame: Baseline to Year 15 post gene therapy

  8. Change from baseline in Endocrine function measured by fasting glucose, thyroid function, and gonadotropin levels

    Time frame: Baseline to Year 15 post gene therapy

  9. 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

  10. 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

  11. Change from baseline in pill/injection count related to cystinosis treatment

    Time frame: Baseline to Year 15 post gene therapy

  12. Change from baseline in Cystinosin (CTNS) as assessed by quantitative Polymerase Chain Reaction (qPCR)

    Time frame: Baseline to Year 15 post gene therapy

  13. Change from baseline in mean Vector Copy Number (VCN) as assessed by quantitative Polymerase Chain Reaction (qPCR)

    Time frame: Baseline to Year 15 post gene therapy

  14. Change from baseline in Cystine levels in leukocytes measured by mass spectrometry

    Time frame: Baseline to Year 15 post gene therapy

  15. Change from baseline in ovarian reserve and menstrual cycle as assessed by anti-Müllerian hormone (AMH) and gynecology exams

    Time frame: Baseline to Year 15 post gene therapy

  16. Change in male reproductive potential as assessed by urology exams (sperm count, motility, and morphology)

    Time frame: Baseline to Year 15 post gene therapy

  17. Absence of Replication Competent Lentivirus (RCL) as assessed by Elisa assay

    Time frame: Baseline to Year 15 post gene therapy

Sponsors and collaborators

Lead sponsor

Stephanie Cherqui

Other

Collaborators

  • California Institute for Regenerative Medicine (CIRM)
  • Cystinosis Research Foundation
  • Novartis Pharmaceuticals

Registry information

Important dates

Study start
2022
Primary completion
2036
Study completion
2036
First posted
Dec 7, 2021
Registry last updated
Jul 3, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.