Cystinosis and Mitochondrial Metabolism

NCT ID: NCT07319091

Last Updated: 2026-01-06

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Clinical Phase: NA
• Total Enrollment: 25 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2026-01-31
• Study Completion Date: 2028-01-31

Brief 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. 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

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

Cystinosis patient

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

Group Type: OTHER

Mitochondrial metabolism

Intervention Type: 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

Interventions

Mitochondrial metabolism

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

Intervention Type: OTHER

Eligibility Criteria

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

• Minimum Eligible Age: 2 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Hospices Civils de Lyon

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

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

Bron, , France

Service de Néphrologie pédiatrique, Hôpital Jeanne de Flandre

Lille, , France

Service de néphrologie et exploration fonctionnelle rénale, Hôpital Edouard Herriot, Hospices Civils de Lyon

Lyon, , France

Service de Néphrologie pédiatrique, Hôpital de la Timone

Marseille, , France

Service de Néphologie et endocrinologie pédiatrique, Hôpital Arnaud de Villeneuve

Montpellier, , France

Service de Néphrologie pédiatrique, Hôpital Necker-Enfants Malades

Paris, , France

Service de Néphrologie-transplantation rénale adultes, Hôpital Necker-Enfants Malades

Paris, , France

Service de Néphrologie pédiatrique, Hôpital Robert Debré

Paris, , France

Service de Néphrologie-Dialyse-Transplantation pédiatrique, Hôpital d'enfants Brabois

Vandœuvre-lès-Nancy, , France

Countries

France

Central Contacts

Justine BACCHETTA, MD

Role: CONTACT

justine.bacchetta@chu-lyon.fr

4 27 85 61 30 ext. +33

Chloé GROSYEUX, MD

Role: CONTACT

chloe.grosyeux@gmail.com

Facility Contacts

Justine BACCHETTA, MD

Role: primary

justine.bacchetta@chu-lyon.fr

4 27 85 61 30 ext. +33

Robert NOVO, MD

Role: primary

Sandrine LEMOINE, MD

Role: primary

Caroline ROUSSET-ROUVIERE, MD

Role: primary

Marc FILA, MD

Role: primary

Olivia BOYER, MD

Role: primary

Aude SERVAIS, MD

Role: primary

Julien HOGAN, MD

Role: primary

Isabelle VRILLON, MD

Role: primary

Other Identifiers

69HCL25_0542

Identifier Type: -

Identifier Source: org_study_id