A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications (Crystobs)
Cystinosis
About this trial
This is an interventional other trial for Cystinosis focused on measuring Cystinosis, compliance, cysteamine, neurological assessments
Eligibility Criteria
- Male and female subjects with confirmed diagnosis of nephropathic cystinosis (defined by clinical signs and WBC cystine level).
- Age > 4 years.
- Subjects receiving any oral cysteamine treatment: Cystagon or RP103.
- Sexually active female subjects of childbearing potential must agree to utilize the same acceptable form of contraception from day 1 through completion of the study.
- 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:
- Subjects with known hypersensitivity to cysteamine and penicillamine.
- 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
Inclusion Criteria:
- 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:
- Any uropathology or nephropathology.
CONTROLS FOR NMRS ASSESSMENTS
Inclusion Criteria:
- 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:
- Any uropathology or nephropathology.
- Any neurological and/or psychiatric disorder
- Contra-indication to MRI assessment.
Sites / Locations
- Hospices Civils de Lyon
Arms of the Study
Arm 1
No Intervention
Cysteamine Bitartrate
Single arm study. Subjects receive their current oral form of cysteamine bitartrate treatment : Cystagon® or RP103