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

NCT05146830 | Enrolling By Invitation FDA Drug

• 1 other identifier: CTNS-RD-04-LTFU01
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Cystinosis

Keywords

Cystinosis Disease; Cell therapy; Gene therapy; Long-term follow-up

Outcome Measures

Primary Outcomes (4)

• 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 Outcomes (17)

• 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)

  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

Study Arms (1)

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.

Other: Safety and Efficacy Assessments

Interventions

Safety and Efficacy Assessments OTHER

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

Also known as: Gene Therapy Intervention

Participants with Cystinosis Disease

Eligibility Criteria

• Age: 14 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Participants who received CTNS-RD-04 and agree to comply with the study visit schedule and procedures.

You may qualify if:

• Participant must have received CTNS-RD-04 in a preceding study

You may not qualify if:

• 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.

Sponsors & Collaborators

• Stephanie Cherqui: lead
• California Institute for Regenerative Medicine (CIRM): collaborator
• Cystinosis Research Foundation: collaborator
• Novartis Pharmaceuticals: collaborator

Study Sites (1)

University of California San Diego

La Jolla, California, 92037, United States

Location

Related Publications (2)

• 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 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.

  PMID: 25186209 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Blood, urine, bone marrow, and hair sample collections.

MeSH Terms

Conditions

Cystinosis

Interventions

Safety

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Accident Prevention; Accidents; Public Health; Environment and Public Health

Study Officials

• Stephanie Cherqui, PhD

  University of California, San Diego

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: October 28, 2021
• First Posted: December 7, 2021
• Study Start: November 14, 2022
• Primary Completion (Estimated): November 30, 2036
• Study Completion (Estimated): November 30, 2036
• Last Updated: July 3, 2024

Record last verified: 2024-07

Locations

US (1)