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NCT Number: NCT07319091

Cystinosis and Mitochondrial Metabolism

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.

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Key information

Conditions

Cystinosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Muscular Diseases Musculoskeletal Diseases Native Kidney Nervous System Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases

Age range

2 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Service de néphrologie pédiatrique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

Exclusion criteria

  • 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

Treatment and study plan

Mitochondrial metabolism

Other

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

Primary outcomes

  1. 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.

Secondary outcomes

  1. Oxygen consumption rate (OCR) of circulating monocytic cells

    Time frame: 24 months

    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.

  2. Extracellular acidification rate (ECAR) of circulating monocytic cells

    Time frame: 24 months

    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.

  3. Age

    Time frame: 24 months

    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

  4. Sex

    Time frame: 24 months

    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

  5. Weight

    Time frame: 24 months

    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

  6. Height

    Time frame: 24 months

    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

  7. Blood pressure

    Time frame: 24 months

    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

  8. Type of treatment

    Time frame: 24 months

    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

  9. Bone deformity

    Time frame: 24 months

    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

  10. Clinical sign of myopathy

    Time frame: 24 months

    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

  11. Grip-test score

    Time frame: 24 months

    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

  12. EAT10 (Eating Assessment Tool) questionnaire score

    Time frame: 24 months

    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

  13. Complete ionogram

    Time frame: 24 months

    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

  14. C-Reactive Protein (CRP)

    Time frame: 24 months

    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

  15. Intra-leukocyte cystine

    Time frame: 24 months

    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

  16. Parathyroid hormone (PTH)

    Time frame: 24 months

    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

  17. Total alkaline phosphatases

    Time frame: 24 months

    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

  18. 25(OH) vitamin D

    Time frame: 24 months

    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

  19. 1-25 (OH) vitamin D

    Time frame: 24 months

    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

  20. Distribution of plasma organic amino acids

    Time frame: 24 months

    Study of metabolomic analysis of patients' blood

  21. Distribution of urinary organic amino acids

    Time frame: 24 months

    Study of metabolomic analysis of patients' urine

  22. Urinary Krebs cycle intermediate metabolites

    Time frame: 24 months

    Study of metabolomic analysis of patients' urine

Study contacts

Contact information is provided by the study sponsor or research team.

Chloé GROSYEUX, MD

CONTACT

[email protected]

Justine BACCHETTA, MD

CONTACT

[email protected]

4 27 85 61 30 ext. +33

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Official study title

Evaluation of Mitochondrial Metabolism in Patients With Cystinosis: CYSTI-MITO Project

Acronym: CYSTI-MITO

Important dates

Study start
2026
Primary completion
2028
Study completion
2028
First posted
Jan 6, 2026
Registry last updated
Jan 6, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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