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Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis) (BioCystinosis)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02837523
Recruitment Status : Active, not recruiting
First Posted : July 19, 2016
Last Update Posted : April 3, 2020
Information provided by (Responsible Party):

Brief Summary:
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Cystinosis disease from the blood

Condition or disease
Renal Fanconi Syndrome Photophobia Hypophosphatemia

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Actual Study Start Date : August 20, 2018
Estimated Primary Completion Date : August 2021
Estimated Study Completion Date : August 2021

Patients with a Cystinosis disease or high-grade suspicion for Cystinosis disease

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. 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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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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
Study Population
Patients with a Cystinosis disease or high-grade suspicion for Cystinosis disease


  • 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



Decreased hair and skin pigmentation

Cystine crystals in the cornea


  • 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

Information from the National Library of Medicine

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 identifier (NCT number): NCT02837523

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Centogene AG
Rostock, Germany, 18055
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
Sponsors and Collaborators
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Principal Investigator: Arndt Rolfs, Prof. CENTOGENE GmbH Rostock
Additional Information:
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Responsible Party: CENTOGENE GmbH Rostock 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

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by CENTOGENE GmbH Rostock:
Cystinosis Disease
Additional relevant MeSH terms:
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Fanconi Syndrome
Fanconi Anemia
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
Hematologic Diseases
Bone Marrow Diseases
DNA Repair-Deficiency Disorders