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

For the development of the new biomarkers using the technique of Mass-spectrometry 7, 5 ml EDTA blood and a dry blood spot filter card are taken. To proof the correct di- agnosis of Hypophosphatasia in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Hypophosphatasia disease will be done. The analyses will be done at the: Centogene AG Am Strande 7 18055 Rostock Germany

Defective Mineralization

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

NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist

Lady Ridgeway Hospital for Children

Biomarker for Hypophosphatasia Disease (BioHypophos)

Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Next-Generation Sequencing (NGS) of the ALPL 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.

Centogene AG Rostock

Study participants whose drink formulation contains no active ingredients but will appear and taste similar to the two other formulations. This will form the control formulation

Study participants' drink formulation will include Red Yeast Rice 600mg, Niacin 12.5mg, Phytosterol esters 650mg, L-Carnitine 150mg, vitamin C 500mg, and Co-Q-10 25mg.

The third formulation will be identical to the second, but without the Red Yeast Rice.

Hyperlipidemia

Each subject will be expected to consume a twice daily drink of approximately 4 ounces per serving taken with the morning and evening meals for a total of 8 weeks. Each bottle will contain two servings.

Placebo

Second Formulation

Third Formulation

Mitchell Karl, M.D. -- Cardiology

A Study Of Nutraceutical Drinks For Cholesterol (Evaluating Effectiveness and Tolerability)

A Multicenter Study Of Nutraceutical Drinks For Cholesterol (Evaluating Effectiveness and Tolerability)

The primary end point will be relative LDL and total cholesterol reductions, i.e., the placebo subtracted reduction in these parameters.

Secondary end points will include change from the control formulation with regard to HDL.

Secondary end points will include change from the control formulation with regard to CRP.

Secondary end points will include change from the control formulation with regard to triglyceride levels.

Dr. Mitchell Karl

Principal Investigator

Healthy Drink Discoveries, Inc.

All study participants progressed from intravenous phenytoin alone to intravenous phenytoin plus probenecid

All Study Participants

Sex: Female, Male

Region of Enrollment

Intravenous Phenytoin Alone

Intravenous Phenytoin Plus Probenecid

Quantitative EEG Recordings

All study participants progressed from receiving intravenous phenytoin alone to intravenous phenytoin plus probenecid.

Dr. Jim McAuley

Epilepsy

intravenous phenytoin (15 mg/kg) single dose

phenytoin

intravenous phenytoin (15 mg/kg) single dose and oral probenecid 2000 mg single dose

gout/seizures

Biomarker for Hypophosphatasia Disease (BioHypophos)

A Study Of Nutraceutical Drinks For Cholesterol (Evaluating Effectiveness and Tolerability)

Evaluating the Transporter Protein Inhibitor Probenecid In Patients With Epilepsy

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