CystinosisNCT05146830
A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04
An observational study of Cystinosis, run by Stephanie Cherqui at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 14 to 50 years
- Conditions the study is for
- Cystinosis
- What is being tested?
- Safety and Efficacy Assessments
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Nov 2022to 30 Nov 2036
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 14 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Participants who received CTNS-RD-04 and agree to comply with the study visit schedule and procedures.
Who may be able to join
- Participant must have received CTNS-RD-04 in a preceding study
Who cannot join
- 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 Participants who have either completed, withdrawn, or prematurely discontinued participation for any reason at any time after receiving CTNS-RD-04 are eligible for CTNS RD 04 LTF01 study participation.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
University of California San Diego
La Jolla, California, 92037
About this study
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.
Read the 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.
- Conditions
- Cystinosis
- Being tested
- Safety and Efficacy Assessments
- Keywords
- Cystinosis Disease, Cell therapy, Gene therapy, Long-term follow-up
- Medical subject headings
- Cystinosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Safety and Efficacy AssessmentsOther
Also called Gene Therapy Intervention
Safety evaluations, disease-specific assessments, and other assessments to monitor for long-term complications of gene therapy intervention.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: Safety and Efficacy Assessments |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of clinically significant Adverse Events (AEs) and Serious Adverse Events (SAEs)
Measured: 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)
Measured: Baseline to Year 15 post gene therapy
Number of participants with clinically relevant abnormalities, as assessed by clinical laboratory tests (chemistry and hematology)
Measured: Baseline to Year 15 post gene therapy
Number of participants with clinically relevant abnormalities, as assessed by by electrocardiograms (ECGs) (rate, rhythm, intervals)
Measured: 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)
Measured: Baseline to Year 15 post gene therapy
Change from baseline in Renal glomerular and tubular functions measured by glomerular filtration rate (GFR)
Measured: Baseline to Year 15 post gene therapy
Change from baseline in vision function as assessed by ophthalmology exams
Measured: Baseline to Year 15 post gene therapy
Change from baseline in grip strength measured by dynamometry
Measured: Baseline to Year 15 post gene therapy
Change from baseline in respiratory function measured by spirometry
Measured: Baseline to Year 15 post gene therapy
Change from baseline in bone density assessed by dual-energy X-ray absorptiometry (DEXA)
Measured: Baseline to Year 15 post gene therapy
Change from baseline in muscle mass assessed by dual-energy X-ray absorptiometry (DEXA)
Measured: Baseline to Year 15 post gene therapy
Change from baseline in Endocrine function measured by fasting glucose, thyroid function, and gonadotropin levels
Measured: 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)
Measured: Baseline to Year 15 post gene therapy
Change from baseline in psychometric function assessed by neurological exam (memory, oromotor function, intelligence quotient (IQ))
Measured: Baseline to Year 15 post gene therapy
Change from baseline in pill/injection count related to cystinosis treatment
Measured: Baseline to Year 15 post gene therapy
Change from baseline in Cystinosin (CTNS) as assessed by quantitative Polymerase Chain Reaction (qPCR)
Measured: Baseline to Year 15 post gene therapy
Change from baseline in mean Vector Copy Number (VCN) as assessed by quantitative Polymerase Chain Reaction (qPCR)
Measured: Baseline to Year 15 post gene therapy
Change from baseline in Cystine levels in leukocytes measured by mass spectrometry
Measured: 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
Measured: Baseline to Year 15 post gene therapy
Change in male reproductive potential as assessed by urology exams (sperm count, motility, and morphology)
Measured: Baseline to Year 15 post gene therapy
Absence of Replication Competent Lentivirus (RCL) as assessed by Elisa assay
Measured: Baseline to Year 15 post gene therapy
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Dec 2021
- Study start14 Nov 2022
- Primary completion30 Nov 2036 (estimated)
- Study completion30 Nov 2036 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for CystinosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Stephanie Cherqui
- Sponsor type
- University, hospital or other
- Collaborators
- California Institute for Regenerative Medicine (CIRM), Cystinosis Research Foundation, Novartis Pharmaceuticals
- Responsible party
- Sponsor-investigator, Stephanie Cherqui, University of California, San Diego
- Investigators
- Stephanie Cherqui, PhD, Principal investigator, University of California, San Diego
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05146830
- Sponsor's protocol ID
- CTNS-RD-04-LTFU01
- Status last verified
- Jul 2024
- First submitted
- 28 Oct 2021
- Last updated
- 3 Jul 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Undecided
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.
PubMed 23089735Naphade 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.
PubMed 25186209
Study at a glance
From the registry record, last updated by the sponsor on 3 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04
- ClinicalTrials.gov ID
- NCT05146830
- Acronym / sponsor ID
- CTNS-RD-04-LTFU01
- Conditions
- Cystinosis
- Keywords
- Cystinosis Disease, Cell therapy, Gene therapy, Long-term follow-up
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Stephanie CherquiUniversity, hospital or other
- Collaborators
- California Institute for Regenerative Medicine (CIRM), Cystinosis Research Foundation, Novartis Pharmaceuticals
- Study start
- 14 Nov 2022 (actual)
- Primary completion
- 30 Nov 2036 (estimated)
- Study completion
- 30 Nov 2036 (estimated)
- First posted
- 7 Dec 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with Cystinosis Disease | – | Other: Safety 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. |
Who may qualify
- Ages
- 14 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Participants who received CTNS-RD-04 and agree to comply with the study visit schedule and procedures.
Key inclusion criteria (1 listed)
- Participant must have received CTNS-RD-04 in a preceding study
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Safety and Efficacy AssessmentsAlso: Gene Therapy InterventionSafety evaluations, disease-specific assessments, and other assessments to monitor for long-term complications of gene therapy intervention. | Other | Participants with Cystinosis Disease |
Primary outcome
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
17 secondary outcomes
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
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
Change from baseline in Cystine levels in leukocytes measured by mass spectrometry
Time frame: 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
Change in male reproductive potential as assessed by urology exams (sperm count, motility, and morphology)
Time frame: 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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jul 2024.
- Results publication: PubMed 23089735Harrison 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.
- Results publication: PubMed 25186209Naphade 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.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Stephanie Cherqui, PhD principal investigator
University of California, San Diego
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cystinosis, run by Stephanie Cherqui at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 3 Jul 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of clinically significant Adverse Events (AEs) and Serious Adverse Events (SAEs) (time frame: Baseline to Year 15 post gene therapy). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05146830, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Jul 2024.