Patients with Mucolipidosis Disorder type I,II,III or IV or high-grade suspicion for Mucolipidosis Disorder type I,II,III or IV

For the development of the new biomarkers using the technique of Mass-spectometry 10 ml EDTA blood or a dry blood spot filter card are taken. To proof the correct mucolipidosis disorder type I, II, III or IV diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of mucolipidosis disorder type I, II, III or IV will be done. The analyses will done in the Centogene AG Am Strande 7 18055 Rostock Germany

Skeletal Abnormalities

Psychomotor Retardation

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.

Children's Hospital, Faculty of Medicine, Ain Shams University

Centogene AG

Amrita Institute of Medical Sciences & Research Centre

NIRMAN-University of Mumbai-Institute of Research in Mental and Neurological handicap

Lady Ridgeway Hospital for Children

Biomarker for Mucolipidosis Disorder Type I, II, III, IV (BioML)

Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Centogene AG Rostock

Patients with Farber disease or high-grade suspicion for Farber disease

For the development of the new biomarkers using the technique of Mass-spectometry, a blood sample will be taken via using a dry blood spot filter card. To proof the correct Farber diagnosis in those patients where up to the enrolment in the study no genetic testing has been done, sequencing of Farber will be done. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

Farber's Lipogranulomatosis

Ceramidase Deficiency

Hepatomegaly

Splenomegaly

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

Children Hospital, Faculty of Medicine, Cairo University

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

Biomarker for Farber Disease (BioFarber)

Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol

Next-Generation Sequencing (NGS) of the ASAH1 gene will be performed. The mutation will be confirmed by Sanger sequencing.

The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

CO2 monitoring in chronic pain patients who treated with opioids.

Chronic Pain

Hypercapnia

Quality of Life

University clinic of internal medicine, Cantonal Hospital Baselland

CO2 Monitoring Study

Continuous Monitoring of Patients Treated With Opioids for Chronic Pain and Its Impact on Patient Safety. A Feasibility Trial.

-Number of events of respiratory depression (PtcCO2 ≥ 6.0 kPa (≥45mmHg) and/or a decrease of respiratory rate on less than 8 breaths per minute) after 48 h of measuring by Sentec Monitoring System

Nurses' additional time expense by using the SenTec Monitoring System
Nurses' contentment with the additional Monitoring using SenTec Monitoring System

sedation, pruritus, nausea, dryness of the mouth, dizziness, myoclonus, constipation, fatigue, sweating, confusion and hallucinations

Prof. Dr. Jörg Leuppi

Chief of University Internal medicine Clinic

Cantonal Hosptal, Baselland

Tacrolimus at doses of 0.15- 0.3mg/kg/day in two divided oral doses, in conjunction with, initially, up to 60mg/day of oral prednisone

Tacrolimus

Sex: Female, Male

White blood cell (WBC) count in CSF pre-treatment

Pre-treatment

White blood cell (WBC) count in CSF post-treatment

Post-treatment

Cerebrospinal Fluid (CSF) Pleocytosis

Survival in patients with paraneoplastic disease who are treated with Tacrolimus, from time of tacrolimus treatment

Tacrolimus at doses of 0.15-0.3mg/kg/day in two divided oral doses, in conjunction with, initially, up to 60mg/day of oral prednisone

myoclonus/atrophy

Biomarker for Mucolipidosis Disorder Type I, II, III, IV (BioML)

Biomarker for Farber Disease (BioFarber)

CO2 Monitoring Study

Immunotherapy of the Paraneoplastic Syndromes

Ketogenic Diet in Lafora Disease

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