Cystinosis study probes medication adherence and brain risks

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* 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.