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

July 1, 2024 updated by: Stephanie Cherqui
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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Enrolling by invitation

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • United States
    • California
      • La Jolla, California, United States, 92037
        • University of California San Diego

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

14 years to 50 years (Child, Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
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
Safety evaluations, disease-specific assessments, and other assessments to monitor for long-term complications of gene therapy intervention.
Other Names:
  • Gene Therapy Intervention

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Time Frame
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
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
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
Baseline to Year 15 post gene therapy
Incidence of clinically significant Adverse Events (AEs) and Serious Adverse Events (SAEs)
Time Frame: Baseline to Year 15 post gene therapy
Baseline to Year 15 post gene therapy

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Time Frame
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
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
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
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
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
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
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
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
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
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
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
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
Baseline to Year 15 post gene therapy
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
Baseline to Year 15 post gene therapy
Change from baseline in Cystine levels in leukocytes measured by mass spectrometry
Time Frame: Baseline to Year 15 post gene therapy
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
Time Frame: Baseline to Year 15 post gene therapy
Baseline to Year 15 post gene therapy
Change in male reproductive potential as assessed by urology exams (sperm count, motility, and morphology)
Time Frame: Baseline to Year 15 post gene therapy
Baseline to Year 15 post gene therapy
Absence of Replication Competent Lentivirus (RCL) as assessed by Elisa assay
Time Frame: Baseline to Year 15 post gene therapy
Baseline to Year 15 post gene therapy

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Stephanie Cherqui

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Novartis Pharmaceuticals
California Institute for Regenerative Medicine (CIRM)
Cystinosis Research Foundation

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Stephanie Cherqui, PhD, University of California, San Diego

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
November 14, 2022

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
November 30, 2036

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
November 30, 2036

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
October 28, 2021

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 23, 2021

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
December 7, 2021

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
July 3, 2024

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 1, 2024

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
July 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • CTNS-RD-04-LTFU01

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

To keep consistent with current treatment listing

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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