nephropatic cystinosis MedDRA version: 12.1 Level: LLT Classification code 10011777 Term: Cystinosis
Conditions
Interventions
Trade Name: CYSTAGON
Product Name: CYSTAGON
Pharmaceutical Form: Capsule*
INN or Proposed INN: MERCAPTAMINE BITARTRATE
CAS Number: 27761-19-9
Other descriptive name: CYSTEAMINE
Concentration unit: mg
Sponsors
HOSPICES CIVILS DE LYON
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients with nephropathic cystinosis - Male and female subjects with confirmed diagnosis of nephropathic cystinosis (defined by clinical signs and WBC cystine level). - Age > 6 years. - Subjects receiving any oral cysteamine treatment: Cystagon? or RP103. - Subjects must be able to swallow their typically administered cysteamine treatment. - 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. Controls - Age and sex matched to study population : Age range : patients aged 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. Are the trial subjects under 18? yes Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) yes F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: Patients with nephropathic cystinosis - Subjects receiving any form of cysteamine medication through a gastric tube. - 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 assessment - Any uropathology or nephropathology.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Main objective The primary objective is to study the relationship between compliance of patients treated with cysteamine and the WBC cystine level. ;Secondary Objective: Secondary objectives •to study the compliance to cysteamine and its clinical impact in terms of retinal crystals and neuropsychological disorders (neurological disorders, visuoperceptual defects), •to study the relationship between compliance to cysteamine and cystine accumulation in the CNS, •to describe absorption, distribution and elimination of cysteamine, and its metabolic pathways, •to determine the concentration effect and dose effect relationship, •to compare the metabonomic network in patients with cystinosis and their controls. .;Primary end point(s): Primary endpoint WBC cystine levels: PD measurements will be performed every month, then quarterly following usual standard of care. WBC cystine levels will be considered as a dichotomous variable (threshold = 1nmol half cystine/mg protein). Compliance under cysteamine will be measured from D1 to M24 using electronic devices (date and time of bottle opening are recorded), accountability of study treatment and information of patients’ diary. Compliance measurement between two consecutive study visits will be expressed as the proportion of the observed number of opening compared to the expected number and the cumulated dose taken compared to the expected dose. Compliance will be first considered as a dichotomous variable, the compliance being described as satisfactory if greater than 95% during a specific period. Compliance will then be considered as a quantitative variable. Secondary endpoints - Eye examination (fundoscopy) performed every 6 month as usual standard of care. Presence or absence and accountability of crystals will be determined after centralized review of fundoscopy. - Neuropsychological disorders, visuoperceptual defects will be evaluated with specific memory and visuoperceptual tests repeated during the stud | — |
Countries
France
Outcome results
None listed