Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis) (BioCystinosis)
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ClinicalTrials.gov Identifier: NCT02837523 |
Recruitment Status :
Active, not recruiting
First Posted : July 19, 2016
Last Update Posted : April 3, 2020
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Condition or disease |
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Renal Fanconi Syndrome Photophobia Hypophosphatemia |

Study Type : | Observational |
Estimated Enrollment : | 1000 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL |
Actual Study Start Date : | August 20, 2018 |
Estimated Primary Completion Date : | August 2021 |
Estimated Study Completion Date : | August 2021 |

Group/Cohort |
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Observation
Patients with a Cystinosis disease or high-grade suspicion for Cystinosis disease
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- Development of a new MS-based biomarker for the early and sensitive diagnosis of Cystinosis disease from the blood [ Time Frame: 24 months ]New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
- Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 months ]The goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.
Biospecimen Retention: Samples With DNA
For the development of the new biomarkers using the technique of Mass-spectrometry, maximal 7,5 ml of blood will be taken via using a dry blood spot filter card. To proof the correct Cystinosis diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Cystinosis disease will be done.
The analyses will be done at:
Centogene AG Am Strande 7 18055 Rostock Germany

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Ages Eligible for Study: | 2 Months and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02837523
Germany | |
Centogene AG | |
Rostock, Germany, 18055 | |
India | |
Amrita Institute of Medical Sciences & Research Centre | |
Cochin, Kerala, India, 682041 | |
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) | |
Mumbai, India, 400705 | |
Sri Lanka | |
Lady Ridgeway Hospital for Children | |
Colombo 8, Sri Lanka, 00800c |
Principal Investigator: | Arndt Rolfs, Prof. | Centogene AG Rostock |
Responsible Party: | Centogene AG Rostock |
ClinicalTrials.gov Identifier: | NCT02837523 |
Other Study ID Numbers: |
BCY 06-2018 |
First Posted: | July 19, 2016 Key Record Dates |
Last Update Posted: | April 3, 2020 |
Last Verified: | April 2020 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Undecided |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Cystinosis Disease Biomarker |
Photophobia Fanconi Syndrome Fanconi Anemia Cystinosis Hypophosphatemia Phosphorus Metabolism Disorders Metabolic Diseases Lysosomal Storage Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Vision Disorders Sensation Disorders |
Neurologic Manifestations Nervous System Diseases Eye Diseases Renal Tubular Transport, Inborn Errors Kidney Diseases Urologic Diseases Anemia, Hypoplastic, Congenital Anemia, Aplastic Anemia Hematologic Diseases Bone Marrow Diseases DNA Repair-Deficiency Disorders |