A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications
NCT ID: NCT02012114
Last Updated: 2025-12-19
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
COMPLETED
NA
65 participants
INTERVENTIONAL
2011-12-31
2021-12-14
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
This study is designed to describe the relationship between compliance of patients with cystinosis treated with cysteamine and treatment efficacy and to understand the pathophysiologic mechanism of neurological disorders. Is cysteamine crossing the blood brain barrier? What is the impact of cystine accumulation in Cerebro Spinal Fluid and Central Nervous System? Our Primary objective is to study the relationship between compliance of patients treated with cysteamine and the WBC cystine level.
Secondary, the study will assess relationship between compliance to cysteamine and its neurological consequences.
The expected duration of the study is 48 months. The enrolment period is 24 months and the study participation of each subject is 24 months. Eligible participants are male and female (age \> 4 years) with confirmed diagnosis of cystinosis and receiving any oral cysteamine treatment: Cystagon or RP103.
The compliance under cysteamine is measured using electronic devices, accountability of study treatment, and information in patients' diary. Specific memory and visuoperceptual tests are performed at the beginning and at the end of patients'participation. Nuclear Magnetic Resonance spectroscopy is used to detect possible sites of cystine accumulation in the CNS and their relationship with compliance to cysteamine treatment. NMRS is also used to establish a relationship with the neuropsychological status of the subject.
To describe absorption, distribution and elimination of cysteamine, and its metabolic pathways, and to determine the concentration effect and dose effect relationship, blood samples are performed at each study visit. A lumbar puncture is also proposed to participants to verify if cysteamine is crossing the blood brain barrier. New tools are used to compare metabonomic networks in patients with cystinosis and their controls.
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Keywords
Explore important study keywords that can help with search, categorization, and topic discovery.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
NA
SINGLE_GROUP
OTHER
NONE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Cysteamine Bitartrate
Single arm study. Subjects receive their current oral form of cysteamine bitartrate treatment : Cystagon® or RP103
Cysteamine bitartrate
No intervention
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
Cysteamine bitartrate
No intervention
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
Sex: male or female
* Subjects or their parent or legal guardian must provide written informed consent prior to participation in the study.
* Subjects covered by or having the right to social security.
\- Age and sex matched to study population: Age range: patients aged 4 to 5 years, 6 to 11 years, patients aged 12 to 17 years, adult patients: 18 or above.
Sex: male or female
* Subjects or their parent or legal guardian must provide written informed consent prior to participation in the study.
* Subjects covered by or having the right to social security.
Exclusion Criteria
* Females who are nursing, planning a pregnancy, known or suspected to be pregnant, or with a positive urinary pregnancy test.
* Subjects who, in the opinion of the Investigator, are not able or willing to comply with the protocol.
* Contra-indication to MRI assessment
CONTROLS FOR METABONOMIC ASSESSMENTS
\- Any uropathology or nephropathology.
CONTROLS FOR NMRS ASSESSMENTS
* Any uropathology or nephropathology.
* Any neurological and/or psychiatric disorder
* Contra-indication to MRI assessment.
4 Years
ALL
Yes
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Hospices Civils de Lyon
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Cochat Pierre, PUPH
Role: STUDY_DIRECTOR
Hospices Civils de Lyon
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Hospices Civils de Lyon
Lyon, , France
Countries
Review the countries where the study has at least one active or historical site.
References
Explore related publications, articles, or registry entries linked to this study.
Gaillard S, Roche L, Lemoine S, Deschenes G, Morin D, Vianey-Saban C, Acquaviva-Bourdain C, Ranchin B, Bacchetta J, Kassai B, Nony P, Bodenan E, Laudy V, Rouges C, Zarrabian S, Subtil F, Mercier C, Cochat P, Bertholet-Thomas A. Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs. Pediatr Nephrol. 2021 Mar;36(3):581-589. doi: 10.1007/s00467-020-04722-0. Epub 2020 Sep 9.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
2010-605
Identifier Type: -
Identifier Source: org_study_id