Nephropathic CystinosisPhase 2NCT07837726
Pilot Study of TTI-0102 in Cystinosis
A Phase 2 study testing TTI-0102 (cysteamine-pantetheine disulfide) in people with Nephropathic Cystinosis and Cystinosis, run by Thiogenesis Therapeutics, Inc..
Trial summary
White blood cell (WBC) cystine levels serve as the primary therapeutic target for monitoring cysteamine treatment in cystinosis, with a goal of <1.9 nmol ½ cystine/mg protein as measured 5-6 hours post-dose when treated with immediate-release formulation, Cystagon® , or 11-12 hours post-dose when treated with… Read more about this study
- Who is it for?
- Ages 18 to 65 years
- Conditions the study is for
- Nephropathic Cystinosis, Cystinosis
- What is being tested?
- TTI-0102 (cysteamine-pantetheine disulfide)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- No sites listed yet
- Study dates
- Oct 2026to Mar 2027
- Phase
- Phase 2
- 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 18 to 65 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Adults aged 18-65 years with a confirmed diagnosis of cystinosis based on clinical features and/or genetic testing, with or without history of kidney transplantation.
- Currently treated with a stable dose of Cystagon® or Procysbi® for at least 3 months prior to enrollment.
- Body weight between 50 kg and 80 kg at screening.
- Able to attend all required study visits and comply with study procedures, including blood draws over a 24-hour period.
- Able to provide informed consent in English.
- The first 3 patients must have WBC cystine levels over the last year no more than 50% greater than the upper limit of target level
Who cannot join
- Known hypersensitivity or allergy to cysteamine, pantetheine, TTI-0102, or any excipients in the study drug.
- Clinically significant uncontrolled medical conditions (e.g., unstable cardiac, hepatic, or renal disease) that, in the investigator's judgment, would increase risk or interfere with study participation.
- Participation in another interventional clinical trial within 30 days prior to screening.
- Any condition that, in the investigator's opinion, would make the participant an unsuitable candidate (e.g., inability to comply with procedures, significant cognitive impairment, active substance use disorder).
- Any patient who is pregnant, plans to become pregnant or is unwilling to use contraceptive measures during study participation.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
White blood cell (WBC) cystine levels serve as the primary therapeutic target for monitoring cysteamine treatment in cystinosis, with a goal of <1.9 nmol ½ cystine/mg protein as measured 5-6 hours post-dose when treated with immediate-release formulation, Cystagon® , or 11-12 hours post-dose when treated with delayed-release formulation, Procysbi®, using UCSD granulocyte assay.
Although cysteamine dosing in cystinosis has traditionally been individualized based on WBC cystine levels, the FDA-approved Cystagon® prescribing information now includes an approximate recommended maintenance dose of 1.30 g/m²/day. When this dosing strategy is plotted against body weight, it aligns with the dosing regimen of TTI-0102 that was found effective in mitochondrial diseases, demonstrating a linear relationship between dose and weight.
The main objective of this study is to demonstrate that administration of a single dose of 60 ± 5 mg/kg/day of TTI-0102 (~26 mg/kg cysteamine base equivalent) allows maintenance of WBC cystine at <1.9 nmol ½ cystine/mg protein over 24 hours as determined by UCSD granulocyte assay.
- Conditions
- Nephropathic Cystinosis, Cystinosis
- Being tested
- TTI-0102 (cysteamine-pantetheine disulfide)
- Medical subject headings
- Cystinosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
TTI-0102 (cysteamine-pantetheine disulfide)Drug
TTI-0102 (cysteamine-pantetheine disulfide) - a prodrug of other FDA-approved forms of cysteamine
| Study group | Role | What they receive |
|---|---|---|
| TTI-0102 (cysteamine-pantetheine disulfide) | Experimental | Given once daily for 7 days Receives: Drug: TTI-0102 (cysteamine-pantetheine disulfide) |
What is being measured
The primary outcome is the main question the study is designed to answer.
White blood cell (WBC) cystine
The primary endpoint is the change in white blood cell (WBC) cystine levels following treatment with TTI-0102. The study will evaluate whether a weight-based dose of 60 ± 5 mg/kg/day maintains WBC cystine levels below 1 nmol ½ cystine/mg protein over 24 hours.
Measured: Comparison of baseline, Day 1-2, Day 3-4, and treatment end (Day 7)
Secondary outcomes (6)
Pharmacokinetic parameter: Cmax
cysteamine in plasma
Measured: At specified days/timepoints during the treatment period: Day1-2, Day 3-4, Day 7
Pharmacokinetic parameter: Tmax
cysteamine in plasma
Measured: At specified days/timepoints during the treatment period: Day1-2, Day 3-4, Day 7
Pharmacokinetic parameter: AUC
cysteamine in plasma
Measured: At specified days/timepoints during the treatment period: Day1-2, Day 3-4, Day 7
Pharmacodynamic biomarker: lactate in plasma
Measured: Baseline (Day 0) to treatment end (Day 7)
Pharmacodynamic biomarker: pyruvate in whole blood
Measured: Baseline (Day 0) to treatment end (Day 7)
Pharmacodynamic biomarker: tryptophan in plasma
Measured: Baseline (Day 0) to treatment end (Day 7)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Sep 2026
- Study startOct 2026 (estimated)
- Primary completionDec 2026 (estimated)
- Study completionMar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Nephropathic 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
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 6 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Thiogenesis Therapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Laurence A Greenbaum, MD, PhD, FAAP, Principal investigator, Emory UniversityPatrice P Rioux, MD, PhD, Study director, Thiogenesis Therapeutics, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07837726
- Sponsor's protocol ID
- TTI-CYST-001
- Status last verified
- Sep 2026
- First submitted
- 13 Sep 2026
- Last updated
- 23 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 23 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pilot Study of TTI-0102 in Cystinosis
- ClinicalTrials.gov ID
- NCT07837726
- Acronym / sponsor ID
- TTI-CYST-001
- Conditions
- Nephropathic Cystinosis, Cystinosis
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- Thiogenesis Therapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- Oct 2026 (estimated)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Mar 2027 (estimated)
- First posted
- 23 Sep 2026 (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.
White blood cell (WBC) cystine levels serve as the primary therapeutic target for monitoring cysteamine treatment in cystinosis, with a goal of <1.9 nmol ½ cystine/mg protein as measured 5-6 hours post-dose when treated with immediate-release formulation, Cystagon® , or 11-12 hours post-dose when treated with delayed-release formulation, Procysbi®, using UCSD granulocyte assay.
Although cysteamine dosing in cystinosis has traditionally been individualized based on WBC cystine levels, the FDA-approved Cystagon® prescribing information now includes an approximate recommended maintenance dose of 1.30 g/m²/day. When this dosing strategy is plotted against body weight, it aligns with the dosing regimen of TTI-0102 that was found effective in mitochondrial diseases, demonstrating a linear relationship between dose and weight.
The main objective of this study is to demonstrate that administration of a single dose of 60 ± 5 mg/kg/day of TTI-0102 (~26 mg/kg cysteamine base equivalent) allows maintenance of WBC cystine at <1.9 nmol ½ cystine/mg protein over 24 hours as determined by UCSD granulocyte assay.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| TTI-0102 (cysteamine-pantetheine disulfide) | Experimental | Drug: TTI-0102 (cysteamine-pantetheine disulfide)Given once daily for 7 days |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- Adults aged 18-65 years with a confirmed diagnosis of cystinosis based on clinical features and/or genetic testing, with or without history of kidney transplantation.
- Currently treated with a stable dose of Cystagon® or Procysbi® for at least 3 months prior to enrollment.
- Body weight between 50 kg and 80 kg at screening.
- Able to attend all required study visits and comply with study procedures, including blood draws over a 24-hour period.
- Able to provide informed consent in English.
Key exclusion criteria (5 listed)
- Known hypersensitivity or allergy to cysteamine, pantetheine, TTI-0102, or any excipients in the study drug.
- Clinically significant uncontrolled medical conditions (e.g., unstable cardiac, hepatic, or renal disease) that, in the investigator's judgment, would increase risk or interfere with study participation.
- Participation in another interventional clinical trial within 30 days prior to screening.
- Any condition that, in the investigator's opinion, would make the participant an unsuitable candidate (e.g., inability to comply with procedures, significant cognitive impairment, active substance use disorder).
- Any patient who is pregnant, plans to become pregnant or is unwilling to use contraceptive measures during 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 |
|---|---|---|
| TTI-0102 (cysteamine-pantetheine disulfide)TTI-0102 (cysteamine-pantetheine disulfide) - a prodrug of other FDA-approved forms of cysteamine | Drug | TTI-0102 (cysteamine-pantetheine disulfide) |
Primary outcome
White blood cell (WBC) cystine
Time frame: Comparison of baseline, Day 1-2, Day 3-4, and treatment end (Day 7)
The primary endpoint is the change in white blood cell (WBC) cystine levels following treatment with TTI-0102. The study will evaluate whether a weight-based dose of 60 ± 5 mg/kg/day maintains WBC cystine levels below 1 nmol ½ cystine/mg protein over 24 hours.
6 secondary outcomes
Pharmacokinetic parameter: Cmax
Time frame: At specified days/timepoints during the treatment period: Day1-2, Day 3-4, Day 7
Pharmacokinetic parameter: Tmax
Time frame: At specified days/timepoints during the treatment period: Day1-2, Day 3-4, Day 7
Pharmacokinetic parameter: AUC
Time frame: At specified days/timepoints during the treatment period: Day1-2, Day 3-4, Day 7
Pharmacodynamic biomarker: lactate in plasma
Time frame: Baseline (Day 0) to treatment end (Day 7)
Pharmacodynamic biomarker: pyruvate in whole blood
Time frame: Baseline (Day 0) to treatment end (Day 7)
Pharmacodynamic biomarker: tryptophan in plasma
Time frame: Baseline (Day 0) to treatment end (Day 7)
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 23 Sep 2026.
- Individual participant dataSharing planned: Undecided
Related trials for Nephropathic Cystinosis
RecruitingPhase 1/2
DFT383 in Pediatric Participants With Nephropathic Cystinosis
Nephropathic Cystinosis
RecruitingObservational study
Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
Glycogen Storage Disease Type IA, Glycogen Storage Disease Type I
Active, not recruitingObservational study
Long-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene Therapy
Fanconi Anemia Complementation Group A, Fanconi Anemia
Active, not recruitingPhase 2
Gene Therapy for Fanconi Anemia, Complementation Group A
Fanconi Anemia Complementation Group A
Recruiting
A Study Comparing the Necessity of a Second Transurethral Resection in High-Risk Non-Muscle-Invasive Bladder Cancer Patients With Negative Results From Post-Initial Resection Urine Genome-Wide Low-Depth Sequencing
Non Muscle Invasive Bladder Cancer
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.
Laurence A Greenbaum, MD, PhD, FAAP principal investigator
Emory University
Patrice P Rioux, MD, PhD study director
Thiogenesis Therapeutics, Inc.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing TTI-0102 (cysteamine-pantetheine disulfide) in people with Nephropathic Cystinosis and Cystinosis, run by Thiogenesis Therapeutics, Inc..
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 6 inclusion and 5 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: opening soon, as of the sponsor's last update on 23 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
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.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
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?
Contact Margo Kamel, PhD - Director of Research Projects (404-712-9923, mkamel@emory.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
White blood cell (WBC) cystine (time frame: Comparison of baseline, Day 1-2, Day 3-4, and treatment end (Day 7)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 23 Sep 2026.