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

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

Renal Fanconi Syndrome

Photophobia

Hypophosphatemia

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Centogene AG

Amrita Institute of Medical Sciences & Research Centre

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Lady Ridgeway Hospital for Children

Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)

Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

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.

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.

Centogene AG Rostock

Aneurysmal Subarachnoid Hemorrhage

Dosage will be 1 gram, 3 times daily. Drug dosing will be initiated at time of aSAH confirmation, for a length of 14 days or at hospital discharge.

Tiopronin

Placebo

The Columbia University Medical Center Department of Neurosurgery Website

The University of Florida Department of Neurosurgery Website

The University of Washington Department of Neurosurgery Website

Principle Investigator: E. Sander Connolly Jr.

Connolly Cerebrovascular Research Laboratory

University of Florida

Columbia University Medical Center

University of Washington

The Effects of Tiopronin on 3-Aminopropanal Level & Neurologic Outcome After Aneurysmal Subarachnoid Hemorrhage

Phase II Study of the Effects of Tiopronin on 3-Aminopropanal Level & Neurologic Outcome After Aneurysmal Subarachnoid Hemorrhage

CSF samples taken as a standard of care at each institution will be tested for routine parameters. A small portion of this sample will be saved and sent to Columbia University Medical Center to measure 3AP levels.

Outcome assessments will include:
Modified Rankin Scale
Barthel Index
Lawton Physical Self Assessment Test (PSMS)
Lawton Instrumental Activities of Daily Living (IADL)
NIH Stroke Scale (NIHSS)
Telephone Interview Cognitive Status (TICS)

E. Sander Connolly

Professor of Neurological Surgery

Food and Drug Administration (FDA)

Cystinosis

National Institutes of Health Clinical Center, 9000 Rockville Pike

Use of Cysteamine in the Treatment of Cystinosis

Serve as a source of knowledge and advice for individual cystinosis patients and for the community at large

National Human Genome Research Institute (NHGRI)

Chronic Pancreatitis

600microgm selenium, 0.54g vitamin C, 9000IU beta-carotene, 270IU vitamin E, 2g methionine per day, daily, in divided doses for 6 months

cystine/atrofia

Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)

The Effects of Tiopronin on 3-Aminopropanal Level & Neurologic Outcome After Aneurysmal Subarachnoid Hemorrhage

Use of Cysteamine in the Treatment of Cystinosis

Role of Antioxidants Supplementation in Chronic Pancreatitis

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