CystinosisCYSTI-MITONCT07319091
Cystinosis and Mitochondrial Metabolism
A study testing Mitochondrial metabolism in people with Cystinosis and Native Kidney, run by Hospices Civils de Lyon at 9 sites in France.
Trial summary
Cystinosis is a monogenic autosomal recessive lysosomal storage disease with complete penetrance, caused by a biallelic mutation in the CTNS gene (17p13.2) encoding cystinosin, a ubiquitous membrane protein whose role is to clear cystine into the cytosol. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Cystinosis, Native Kidney
- What is being tested?
- Mitochondrial metabolism
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 25 participants
- Where
- 9 sitesFrance
- Study dates
- 8 Dec 2025to Jul 2028
- Phase
- Interventional
- 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 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patient with genetically confirmed nephropathic cystinosis
- Men and women, children and adults with cystinosis
- Undergoing conservative treatment on native kidneys
- Age ≥ 2 years
- Patients receiving oral cysteamine
- Patients with social security coverage
- Informed consent signed by the participant or parents or legal guardians before participating in the study
Who cannot join
- Patient not complying with study procedures
- Transplant or dialysis patient
- Patient on anticalcineurin
- Pregnant or breast-feeding woman
- Person deprived of liberty by a judicial or administrative decision
- Person not affiliated to a social security scheme or beneficiaries of a similar scheme
Trial locations and contacts
9 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Chloé GROSYEUX, MD contact
9 sites in 1 country
France9 sites, 9 recruiting
- Recruiting
Service de néphrologie pédiatrique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon
Bron, 69677 Bron Cedex
Justine BACCHETTA, MD, 4 27 85 61 30 ext. +33, justine.bacchetta@chu-lyon.fr
Justine BACCHETTA, MD
- Recruiting
Service de Néphrologie pédiatrique, Hôpital Jeanne de Flandre
Lille, 59000
Robert NOVO, MD
Robert NOVO, MD
- Recruiting
Service de néphrologie et exploration fonctionnelle rénale, Hôpital Edouard Herriot, Hospices Civils de Lyon
Lyon, 69003
Sandrine LEMOINE, MD
Sandrine LEMOINE, MD
- Recruiting
Service de Néphrologie pédiatrique, Hôpital de la Timone
Marseille, 13385
Caroline ROUSSET-ROUVIERE, MD
Caroline ROUSSET-ROUVIERE, MD
- Recruiting
Service de Néphologie et endocrinologie pédiatrique, Hôpital Arnaud de Villeneuve
Montpellier, 34295
Marc FILA, MD
Marc FILA, MD
- Recruiting
Service de Néphrologie pédiatrique, Hôpital Necker-Enfants Malades
Paris, 75015
Olivia BOYER, MD
Olivia BOYER, MD
- Recruiting
Service de Néphrologie-transplantation rénale adultes, Hôpital Necker-Enfants Malades
Paris, 75015
Aude SERVAIS, MD
Aude SERVAIS, MD
- Recruiting
Service de Néphrologie pédiatrique, Hôpital Robert Debré
Paris, 75019
Julien HOGAN, MD
Julien HOGAN, MD
- Recruiting
Service de Néphrologie-Dialyse-Transplantation pédiatrique, Hôpital d'enfants Brabois
Vandœuvre-lès-Nancy, 54511
Isabelle VRILLON, MD
Isabelle VRILLON, MD
About this study
Official title: Evaluation of Mitochondrial Metabolism in Patients With Cystinosis: CYSTI-MITO Project
Cystinosis is a monogenic autosomal recessive lysosomal storage disease with complete penetrance, caused by a biallelic mutation in the CTNS gene (17p13.2) encoding cystinosin, a ubiquitous membrane protein whose role is to clear cystine into the cytosol. Its dysfunction in patients with cystinosis leads to systemic accumulation of cystine, an oxidised dimer of cysteines linked by a disulphide bridge, in the lysosomal space, and irreversible cellular dysfunction. Renal damage is at the forefront, with Fanconi syndrome (proximal tubulopathy) and chronic renal failure developing early in childhood/adolescence. There are also multi-systemic disorders, notably endocrine and ophthalmological. Cysteamine is an amino thiol which reduces the level of intra-lysosomal cystine by breaking the disulphide strands of cystine, giving two cysteines which complex with cysteamine to leave the lysosome. Since the late 1980s, there has been an immediate-release form of the drug, which has considerably improved overall patient survival despite having a major impact on quality of life. This improvement in survival has also led to the emergence of later complications that were not previously observed. This musculoskeletal complication (described in an international consensus in 2019), known as 'CMBD' for Cystinosis Metabolic Bone Disease, may be explained at least in part by an intrinsic defect in the osteoblast and osteoclast that contribute to the human bone phenotype. This intrinsic bone defect appears to be responsible for premature ageing. In order to identify potential future therapeutic targets for CMBD, it is essential to gain a better understanding of the underlying pathophysiological mechanisms.
To better understand premature aging in extra-renal damage in cystinosis, it seems relevant to investigate energy metabolism dysfunction, particularly mitochondrial dysfunction.
- Conditions
- Cystinosis, Native Kidney
- Being tested
- Mitochondrial metabolism
- Keywords
- Cystinosis, Mitochondria, Cystinosis Metabolic Bone Disease (CMBD), Myopathy
- Medical subject headings
- Cystinosis, Muscular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Mitochondrial metabolismOther
Study of membrane potential by flow cytometry of circulating monocyte cells and evaluate the respiratory chain of these cells in patients with cystinosis and described musculoskeletal disorders in the study population in clinical and biological terms including metabolomic analysis of patients' blood and urine
| Study group | Role | What they receive |
|---|---|---|
| Cystinosis patient | Other | Patient with genetically confirmed nephropathic cystinosis Men and women, children and adults with cystinosis Undergoing conservative treatment on native kidneys Age ≥ 2 years Patients receiving oral cysteamine Patients with social security coverage Informed consent signed by the participant or parents or legal guardians before participating in the study Receives: Other: Mitochondrial metabolism |
What is being measured
The primary outcome is the main question the study is designed to answer.
Membrane potential of circulating monocyte cells
Mitochondrial metabolism was assessed by measuring the membrane potential by flow cytometry of circulating monocyte cells between subjects with and without cystinosis.
Measured: 24 months
Secondary outcomes (23)
Oxygen consumption rate (OCR) of circulating monocytic cells
The oxygen consumption rate (OCR) of circulating monocytic cells is measured by the Seahorse method. This method also measures the extracellular acidification rate (ECAR) of cells. The oxygen consumption rate (OCR) and the extracellular acidification rate (ECAR) are used to assess the respiratory chain of the cells, which will be compared between subjects with and without cystinosis.
Measured: 24 months
Extracellular acidification rate (ECAR) of circulating monocytic cells
The extracellular acidification rate (ECAR) of circulating monocytic cells is measured by the Seahorse method. This method also measures the oxygen consumption rate (OCR) of cells. The extracellular acidification rate (ECAR) and the oxygen consumption rate (OCR) are used to assess the respiratory chain of the cells, which will be compared between subjects with and without cystinosis.
Measured: 24 months
Age
The patient's age is a data used to produce a clinical description of musculoskeletal disorders based on current practice data such as : sex, weight, height, blood pressure, treatment, bone deformity, clinical sign of myopathy, grip strength test using the Grip-test (Z score) and the EAT10 (Eating Assessment Tool) questionnaire
Measured: 24 months
Sex
The patient's sex is a data used to produce a clinical description of musculoskeletal disorders based on current practice data such as : age, weight, height, blood pressure, treatment, bone deformity, clinical sign of myopathy, grip strength test using the Grip-test (Z score) and the EAT10 (Eating Assessment Tool) questionnaire
Measured: 24 months
Weight
The patient's weight is a data used to produce a clinical description of musculoskeletal disorders based on current practice data such as : age, sex, height, blood pressure, treatment, bone deformity, clinical sign of myopathy, grip strength test using the Grip-test (Z score) and the EAT10 (Eating Assessment Tool) questionnaire
Measured: 24 months
Height
The patient's height is a data used to produce a clinical description of musculoskeletal disorders based on current practice data such as : age, sex, weight, blood pressure, treatment, bone deformity, clinical sign of myopathy, grip strength test using the Grip-test (Z score) and the EAT10 (Eating Assessment Tool) questionnaire
Measured: 24 months
Blood pressure
The patient's blood pressure is a data used to produce a clinical description of musculoskeletal disorders based on current practice data such as : age, sex, weight, height, treatment, bone deformity, clinical sign of myopathy, grip strength test using the Grip-test (Z score) and the EAT10 (Eating Assessment Tool) questionnaire
Measured: 24 months
Type of treatment
The patient's type of treatment is a data used to produce a clinical description of musculoskeletal disorders based on current practice data such as : age, sex, weight, height, blood pressure, bone deformity, clinical sign of myopathy, grip strength test using the Grip-test (Z score) and the EAT10 (Eating Assessment Tool) questionnaire
Measured: 24 months
Bone deformity
The patient's bone deformity is a data used to produce a clinical description of musculoskeletal disorders based on current practice data such as : age, sex, weight, height, blood pressure, treatment, clinical sign of myopathy, grip strength test using the Grip-test (Z score) and the EAT10 (Eating Assessment Tool) questionnaire
Measured: 24 months
Clinical sign of myopathy
Clinical sign of myopathy is a data used to produce a clinical description of musculoskeletal disorders based on current practice data such as : age, sex, weight, height, blood pressure, treatment, bone deformity, grip strength test using the Grip-test (Z score) and the EAT10 (Eating Assessment Tool) questionnaire
Measured: 24 months
Grip-test score
The Grip-test is used to assess grip strength. Grip-test score is a data used to produce a clinical description of musculoskeletal disorders based on current practice data such as : age, sex, weight, height, blood pressure, treatment, bone deformity, clinical sign of myopathy and the EAT10 (Eating Assessment Tool) questionnaire
Measured: 24 months
EAT10 (Eating Assessment Tool) questionnaire score
EAT10 (Eating Assessment Tool) questionnaire score is pathological if >= 3 :
- 3-10 mild dysphagia
- 11-20 moderate dysphagia
- 21-40 severe dysphagia) questionnaire. EAT10 score is a data used to produce a clinical description of musculoskeletal disorders based on current practice data such as : age, sex, weight, height, blood pressure, treatment, bone deformity, clinical sign of myopathy and grip-test score
Measured: 24 months
Complete ionogram
Complete ionogram is a data used to produce biological description of musculoskeletal disorders based on routine practice data such as C-reactive protein (CRP), intra-leukocyte cystine, Parathyroid hormone (PTH), total alkaline phosphatases, 25(OH) vitamin D, 1-25 (OH) vitamin D
Measured: 24 months
C-Reactive Protein (CRP)
C-Reactive Protein (CRP) is a data used to produce biological description of musculoskeletal disorders based on routine practice data such as complete ionogram, intra-leukocyte cystine, Parathyroid hormone (PTH), total alkaline phosphatases, 25(OH) vitamin D, 1-25 (OH) vitamin D
Measured: 24 months
Intra-leukocyte cystine
Intra-leukocyte cystine is a data used to produce biological description of musculoskeletal disorders based on routine practice data such as complete ionogram, C-Reactive Protein (CRP), Parathyroid hormone (PTH), total alkaline phosphatases, 25(OH) vitamin D, 1-25 (OH) vitamin D
Measured: 24 months
Parathyroid hormone (PTH)
Parathyroid hormone (PTH) is a data used to produce biological description of musculoskeletal disorders based on routine practice data such as complete ionogram, C-Reactive Protein (CRP),intra-leukocyte cystine, total alkaline phosphatases, 25(OH) vitamin D, 1-25 (OH) vitamin D
Measured: 24 months
Total alkaline phosphatases
Total alkaline phosphatases is a data used to produce biological description of musculoskeletal disorders based on routine practice data such as complete ionogram, C-Reactive Protein (CRP), intra-leukocyte cystine, Parathyroid hormone (PTH), 25(OH) vitamin D, 1-25 (OH) vitamin D
Measured: 24 months
25(OH) vitamin D
25(OH) vitamin D is a data used to produce biological description of musculoskeletal disorders based on routine practice data such as complete ionogram, C-Reactive Protein (CRP), intra-leukocyte cystine, Parathyroid hormone (PTH), total alkaline phosphatases, 1-25 (OH) vitamin D
Measured: 24 months
1-25 (OH) vitamin D
1-25 (OH) vitamin D is a data used to produce biological description of musculoskeletal disorders based on routine practice data such as complete ionogram, C-Reactive Protein (CRP), intra-leukocyte cystine, Parathyroid hormone (PTH), total alkaline phosphatases, 25 (OH) vitamin D
Measured: 24 months
Distribution of plasma organic amino acids
Study of metabolomic analysis of patients' blood
Measured: 24 months
Distribution of urinary organic amino acids
Study of metabolomic analysis of patients' urine
Measured: 24 months
Urinary Krebs cycle intermediate metabolites
Study of metabolomic analysis of patients' urine
Measured: 24 months
Membrane potential of circulating monocyte cells from patients treated with selenium
Mitochondrial metabolism was assessed by measuring the membrane potential by flow cytometry of circulating monocyte cells from patients with cystinosis treated with selenium
Measured: 30 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jan 2026
- Study start8 Dec 2025
- Primary completionDec 2027 (estimated)
- Study completionJul 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CystinosisStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- 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 N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07319091
- Sponsor's protocol ID
- 69HCL25_0542
- Acronym
- CYSTI-MITO
- Status last verified
- Jul 2026
- First submitted
- 18 Nov 2025
- Last updated
- 3 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Mitochondrial Metabolism in Patients With Cystinosis: CYSTI-MITO Project
- ClinicalTrials.gov ID
- NCT07319091
- Acronym / sponsor ID
- CYSTI-MITO / 69HCL25_0542
- Conditions
- Cystinosis, Native Kidney
- Keywords
- Cystinosis, Mitochondria, Cystinosis Metabolic Bone Disease (CMBD), Myopathy
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 8 Dec 2025 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Jul 2028 (estimated)
- First posted
- 6 Jan 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.
Cystinosis is a monogenic autosomal recessive lysosomal storage disease with complete penetrance, caused by a biallelic mutation in the CTNS gene (17p13.2) encoding cystinosin, a ubiquitous membrane protein whose role is to clear cystine into the cytosol. Its dysfunction in patients with cystinosis leads to systemic accumulation of cystine, an oxidised dimer of cysteines linked by a disulphide bridge, in the lysosomal space, and irreversible cellular dysfunction. Renal damage is at the forefront, with Fanconi syndrome (proximal tubulopathy) and chronic renal failure developing early in childhood/adolescence. There are also multi-systemic disorders, notably endocrine and ophthalmological. Cysteamine is an amino thiol which reduces the level of intra-lysosomal cystine by breaking the disulphide strands of cystine, giving two cysteines which complex with cysteamine to leave the lysosome. Since the late 1980s, there has been an immediate-release form of the drug, which has considerably improved overall patient survival despite having a major impact on quality of life. This improvement in survival has also led to the emergence of later complications that were not previously observed. This musculoskeletal complication (described in an international consensus in 2019), known as 'CMBD' for Cystinosis Metabolic Bone Disease, may be explained at least in part by an intrinsic defect in the osteoblast and osteoclast that contribute to the human bone phenotype. This intrinsic bone defect appears to be responsible for premature ageing. In order to identify potential future therapeutic targets for CMBD, it is essential to gain a better understanding of the underlying pathophysiological mechanisms.
To better understand premature aging in extra-renal damage in cystinosis, it seems relevant to investigate energy metabolism dysfunction, particularly mitochondrial dysfunction.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cystinosis patient | Other | Other: Mitochondrial metabolismPatient with genetically confirmed nephropathic cystinosis Men and women, children and adults with cystinosis Undergoing conservative treatment on native kidneys Age ≥ 2 years Patients receiving oral cysteamine Patients with social security coverage Informed consent signed by the participant or parents or legal guardians before participating in the study |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- Patient with genetically confirmed nephropathic cystinosis
- Men and women, children and adults with cystinosis
- Undergoing conservative treatment on native kidneys
- Age ≥ 2 years
- Patients receiving oral cysteamine
Key exclusion criteria (6 listed)
- Patient not complying with study procedures
- Transplant or dialysis patient
- Patient on anticalcineurin
- Pregnant or breast-feeding woman
- Person deprived of liberty by a judicial or administrative decision
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 |
|---|---|---|
| Mitochondrial metabolismStudy of membrane potential by flow cytometry of circulating monocyte cells and evaluate the respiratory chain of these cells in patients with cystinosis and described musculoskeletal disorders in the study population in clinical and biological terms including metabolomic analysis of patients' blood and urine | Other | Cystinosis patient |
Primary outcome
Membrane potential of circulating monocyte cells
Time frame: 24 months
Mitochondrial metabolism was assessed by measuring the membrane potential by flow cytometry of circulating monocyte cells between subjects with and without cystinosis.
23 secondary outcomes
Oxygen consumption rate (OCR) of circulating monocytic cells
Time frame: 24 months
Extracellular acidification rate (ECAR) of circulating monocytic cells
Time frame: 24 months
Age
Time frame: 24 months
Sex
Time frame: 24 months
Weight
Time frame: 24 months
Height
Time frame: 24 months
Blood pressure
Time frame: 24 months
Type of treatment
Time frame: 24 months
Bone deformity
Time frame: 24 months
Clinical sign of myopathy
Time frame: 24 months
Grip-test score
Time frame: 24 months
EAT10 (Eating Assessment Tool) questionnaire score
Time frame: 24 months
Complete ionogram
Time frame: 24 months
C-Reactive Protein (CRP)
Time frame: 24 months
Intra-leukocyte cystine
Time frame: 24 months
Parathyroid hormone (PTH)
Time frame: 24 months
Total alkaline phosphatases
Time frame: 24 months
25(OH) vitamin D
Time frame: 24 months
1-25 (OH) vitamin D
Time frame: 24 months
Distribution of plasma organic amino acids
Time frame: 24 months
Distribution of urinary organic amino acids
Time frame: 24 months
Urinary Krebs cycle intermediate metabolites
Time frame: 24 months
Membrane potential of circulating monocyte cells from patients treated with selenium
Time frame: 30 months
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 Aug 2026.
- Individual participant dataSharing planned: No
Related trials for Cystinosis
Not yet recruitingObservational study
European Cystinosis Cohort 2
Cystinosis
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingPhase 1/2
DFT383 in Pediatric Participants With Nephropathic Cystinosis
Nephropathic Cystinosis
Not yet recruitingPhase 2
Pilot Study of TTI-0102 in Cystinosis
Nephropathic Cystinosis, Cystinosis
RecruitingObservational study
Use of Cysteamine in the Treatment of Cystinosis
Cystinosis
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.
Chloé GROSYEUX, MD contact
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Mitochondrial metabolism in people with Cystinosis and Native Kidney, run by Hospices Civils de Lyon at 9 sites in France.
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 7 inclusion and 6 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: looking for participants now, as of the sponsor's last update on 3 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in France. 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?
Contact Justine BACCHETTA, MD (4 27 85 61 30 ext. +33, justine.bacchetta@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Membrane potential of circulating monocyte cells (time frame: 24 months). 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 3 Aug 2026.