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Gene Therapy
Stem Cell Gene Therapy for Cystinosis
Phase 1 & 2
Waitlist Available
Led By Stephanie Cherqui, Ph.D.
Research Sponsored by University of California, San Diego
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial Must have
Subject has an adequate hepatic function: Bilirubin ≤ 2.0 mg/ dL, ALT ≤ 3 x institution's upper limit of normal (ULN) U/L
Subject has adequate thyroid function (with or without thyroid replacement therapy): TSH 0.27-4.2 mIU/mL, Total T4 ≤ 2 x ULN mcg/dL
Timeline
Screening 3 weeks
Treatment Varies
Follow Up up to 24 months post transplant.
Awards & highlights
Study Summary
This trial will test a new treatment for cystinosis, a rare disease that affects the metabolism of the amino acid cystine.
Who is the study for?
This trial is for individuals with cystinosis, a specific lysosomal storage disease. Eligible participants must be at least 14 years old, have adequate organ function, and agree to use contraception or remain abstinent for two years post-treatment. They should not have had major surgery recently, previous gene therapy or stem cell transplants, certain allergies or infections, substance addiction issues, severe medical disorders, or be on immunosuppressive drugs.Check my eligibility
What is being tested?
The study tests the safety and effectiveness of CTNS-RD-04 and CTNS-RD-04-LB (LentiBOOST), which are gene-corrected hematopoietic stem cells from patients with cystinosis. It's a Phase 1/2 trial where these enriched cells are reintroduced into the patient to see if they can correct the genetic defect causing their condition.See study design
What are the potential side effects?
Potential side effects aren't specified but may include reactions related to stem cell transplantation such as immune responses against the new cells (graft-versus-host disease), infection risks due to weakened immunity during conditioning treatment before transplanting the corrected cells, infusion-related reactions and bone marrow suppression.
Eligibility Criteria
Inclusion Criteria
You may be eligible if you check “Yes” for the criteria belowSelect...
My liver is functioning well, with normal bilirubin and ALT levels.
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My thyroid function is within the normal range, with or without medication.
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I agree to use effective birth control or remain abstinent for two years after my transplant.
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I have been diagnosed with cystinosis, showing early signs and have high cystine in my cells or crystals in my eyes.
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I agree to use effective birth control or remain abstinent for two years after my transplant.
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My kidney function is normal, with creatinine levels less than twice the upper limit.
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I can care for myself but may not be able to do active work.
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My blood counts are within the required range for treatment.
Timeline
Screening ~ 3 weeks3 visits
Treatment ~ Varies
Follow Up ~ up to 24 months post transplant.
Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~up to 24 months post transplant.
Treatment Details
Study Objectives
Outcome measures can provide a clearer picture of what you can expect from a treatment.Primary outcome measures
Evaluation of safety - Absence of Replication-Competent Lentivirus (RCL)
Evaluation of safety - Absence of Severe Adverse Events (SAEs) due to the investigational product
Evaluation of safety - Absence of genotoxicity
+1 moreSecondary outcome measures
Evaluation of efficacy - Change in Quality of Life
Evaluation of efficacy - Change in cystine levels
Therapeutic procedure
Trial Design
1Treatment groups
Experimental Treatment
Group I: Gene Therapy with CTNS-RD-04 or CTNS-RD-04-LB (where the suffix "-LB" stands for LentiBOOST)Experimental Treatment1 Intervention
This is a single arm study without randomization. Eligible subjects will receive the final product: CTNS-RD-04 or CTNS-RD-04-LB (where the suffix "-LB" stands for LentiBOOST).
Find a Location
Who is running the clinical trial?
University of California, San DiegoLead Sponsor
1,120 Previous Clinical Trials
1,521,401 Total Patients Enrolled
4 Trials studying Cystinosis
470 Patients Enrolled for Cystinosis
Cystinosis Research FoundationOTHER
3 Previous Clinical Trials
20,770 Total Patients Enrolled
3 Trials studying Cystinosis
20,770 Patients Enrolled for Cystinosis
California Institute for Regenerative Medicine (CIRM)OTHER
63 Previous Clinical Trials
3,142 Total Patients Enrolled
1 Trials studying Cystinosis
12 Patients Enrolled for Cystinosis
Media Library
Eligibility Criteria:
This trial includes the following eligibility criteria:- I had major surgery less than 90 days ago or am not fully recovered.My liver is functioning well, with normal bilirubin and ALT levels.I have severe kidney disease and am on or planning to be on a transplant list soon.I do not have any severe illnesses that would stop me from following the study's treatment and procedures.I haven't taken any strong immune or cancer drugs in the last 60 days, except for a kidney transplant.You have had allergic reactions to drugs similar to Busulfan or other drugs used in the study.I have had heart problems or an abnormal heart test in the last 3 months.I agree not to donate blood or organs from 30 days before screening until after treatment.My thyroid function is within the normal range, with or without medication.I agree to use effective birth control or remain abstinent for two years after my transplant.My lung function is significantly reduced.Your blood clotting time is within normal range.I am 18 years old or older.I am willing and able to stop my cysteamine treatment.I have tested positive for a virus like HIV, Hepatitis B/C, or West Nile.I am 14 years old or older.I have been diagnosed with cystinosis, showing early signs and have high cystine in my cells or crystals in my eyes.I have received gene therapy before.You have a history of drug or alcohol addiction.I agree to use effective birth control or remain abstinent for two years after my transplant.My kidney function is normal, with creatinine levels less than twice the upper limit.I am a woman who could become pregnant, am pregnant, or am nursing.I can care for myself but may not be able to do active work.My blood counts are within the required range for treatment.I have had a bleeding disorder or needed blood-thinning medicine in the last 3 months.I have had or will have a bone marrow or stem cell transplant within 3 months of starting the study.I do not have an active infection.I have or had cancer, except for certain skin cancers that were treated before any transplant.I had a kidney transplant more than a year ago.
Research Study Groups:
This trial has the following groups:- Group 1: Gene Therapy with CTNS-RD-04 or CTNS-RD-04-LB (where the suffix "-LB" stands for LentiBOOST)
Awards:
This trial has 1 awards, including:- No Placebo-Only Group - All patients enrolled in this study will receive some form of active treatment.
Timeline:
This trial has the following timeline:- Screening: It may take up to 3 Weeks to process to see if you qualify in this trial.
- Treatment: The duration you will receive the treatment varies.
- Follow Ups: You may be asked to continue sharing information regarding the trial for 6 Months after you stop receiving the treatment.
Frequently Asked Questions
These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
How many individuals are participating in this medical experiment?
"Affirmative. Clinicaltrials.gov data confirms that this research study, which was first published on July 8th 2019, is actively searching for volunteers. Approximately 6 participants must be sourced from 1 medical centre."
Answered by AI
Does this research currently have availability for enrolment?
"Positive, the information provided on clinicaltrials.gov shows that this research is currently looking to recruit patients. Initially posted on July 8th 2019 and last updated October 19th 2022, they are now seeking 6 individuals from 1 site."
Answered by AI
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