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

L-carnitine (25, 50, or 100mg/kg IV) will be given, 30-60 minutes prior to the initiation of CPB, and a second dose ~2 hr. following separation from CPB (with a minimum of 4 hrs from initial dose). The first 5 subjects will receive 25 mg/kg, with an escalation of dose after each 5 subjects enrolled. The study drug will be brought to the operating room and administered over 5 minutes by the anesthesiologist after an IV has been placed. Prior to the administration of the study drug, and again 24 and 48 hrs after CPB, 3.0 ml of blood will be collected for determinations of carnitine levels (free, total, and acylcarnitine), mitochondrial function, ROS and bioavailable NO as described in Aim 3A. Additional blood (0.5-1.0 ml) will be obtained to determine carnitine levels before CPB, and then before and 0.5, 1.5, 3, 5, 9, 12, and 24h after the second dose.

Heart Septal Defects, Ventricular

Atrioventricular Septal Defect

IV L-carnitine

University of California San Francisco

Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow

Phase 1 Study of the Safety and Pharmacokinetics of Perioperative IV L-carnitine Administration in Patients With Congenital Heart Disease With Increased Pulmonary Blood Flow

Estimates of PPA and right ventricular (RV) function by transesophageal ECHO (TEE)

University of California, San Francisco

The General Questionnaire: help to understand which characteristics of CVS patients are associated with both beneficial and harmful effects of these treatments

The Co-Enzyme Q10 Questionnaire: to be completed by individuals who ever taken co-enzyme Q10

The L-Carnitine Questionnaire: to be completed by individuals who have ever taken L-carnitine

The Amitriptyline Questionnaire: to be completed by individuals who have ever taken amitriptyline

carnitine/povraćanje

Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)

Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow

The Use of L-Carnitine And CoQ10 Supplements In the Treatment of Cyclic Vomiting Syndrome (CVS)

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