Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)
Stopped: No longer pursued
Germany, India, Sri Lanka0Started 2018-08-20
Plain-language summary
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Cystinosis disease from the blood
Who can participate
Age range2 Months
SexALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
INCLUSION CRITERIA:
* Informed consent will be obtained from the patient or the parents before any study re- lated procedures.
* Patients of both genders older than 2 months
* The patient has a diagnosis of the Cystinosis disease or a high-grade suspicion for the Cystinosis disease
* High-grade suspicion present, if one or more inclusion criteria are valid:
Positive family anamnesis for Cystinosis disease
Renal Fanconi syndrome
Photophobia
Hypophosphatemia
Decreased hair and skin pigmentation
Cystine crystals in the cornea
EXCLUSION CRITERIA
* No Informed consent from the patient or the parents before any study related procedures.
* Patients of both genders younger than 2 months
* No diagnosis of Cystinosis disease or no valid criteria for profound suspicion of a Cystinosis disease
What they're measuring
1
Development of a new MS-based biomarker for the early and sensitive diagnosis of Cystinosis disease from the blood