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Metabolic Disorders Clinical Trials

A listing of Metabolic Disorders medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

RESULTS

Found (61) clinical trials

Familial Hypercholesterolemia Canada / Hypercholesterolemie Familiale Canada

Familial hypercholesterolemia (FH) is a genetic lipoprotein disorder characterized by elevations in low-density lipoprotein cholesterol (LDL-C) >95th percentile for age and gender. Affected individuals may show clinical manifestations (xanthomas, xanthelasmas and premature arcus corneus) although these manifestations are seen less frequently with early diagnosis and treatment. Untreated, FH will lead ...

Phase N/A

Biomarker for Hypophosphatasia Disease

Hypophosphatasia (HPP) is a rare genetic disorder characterized the abnormal devel-opment of bones and teeth. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. These minerals are required for proper hardness and strength. Defective mineralization results in ...

Phase N/A

Biomarker for Patients With Transthyretin-Related Familial Amyloidotic Polyneuropathy

Diseases of diverse etiology can be correlated to the term "polyneuropathy"(PNP). The pathogenesis may be of inflammatory, autoimmune, metabolic, toxic or hereditary nature. Careful clinical and electrodiagnostic assessment, with attention to the pattern of involvement and the types of nerve fibers most affected, narrows the differential diagnosis and helps to ...

Phase N/A

Studies in Porphyria I: Characterization of Enzyme Defects

PROTOCOL OUTLINE: All patients are evaluated for porphyria type and factors contributing to the clinical expression of their particular form of the disease. Testing includes erythrocyte porphobilinogen deaminase, erythrocyte protoporphyrin, plasma porphyrins, and urinary and fecal porphyrins and precursors. Selected patients are entered into other porphyrin research protocols in this ...

Phase N/A

The Psoriasis Atherosclerosis and Cardiometabolic Disease Initiative (PACI)

Over the past two decades, inflammation has been identified as an important pathogenic process in cardiometabolic diseases (CMD) such atherosclerotic cardiovascular disease (CVD), dyslipidemia, insulin resistance, diabetes and obesity. However, mechanistic links between inflammation and these disease states in humans remain poorly understood. In this study, we propose to utilize ...

Phase N/A

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

CoRDS collects contact, sociodemographic and health information about participants. This information is entered into CoRDS and linked to a unique coded identifier. Below are some examples of information requested on the Questionnaire that will be entered into CoRDS: Contact information: Name, Mailing Address, Phone Number, Email Address Sociodemographic information: Date ...

Phase N/A

PAR Regulation of Platelet Function in Diabetic Patients

Given the known roles of proteases and PARs in coagulation, inflammation, pain, healing and protection, the need for development of a PAR antagonist as a therapeutic agent for treatment of thrombosis, atherosclerosis and inflammation is well-recognized. Thus, blocking PAR action by inhibiting the PAR-G protein interface is an alternative target ...

Phase N/A

Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)

UCDs disproportionately affect children and females: depending on the severity of the defect, a UCD can manifest shortly after birth or later in life. This study will track long-term outcomes in UCD patients and effects of ammonia-scavenging agents on neuropsychological functions of UCD patients. This is a non-interventional, multi-center registry ...

Phase N/A

Side Effects of Antipsychotic Medications

Objectives: The use of atypical antipsychotics has been associated with increased weight gain, the development of type-2 diabetes, and, in rare cases, diabetic ketoacidosis. It is not clear if these changes are a direct function of antipsychotics on either insulin action or insulin secretion, or simply related to their ability ...

Phase N/A

Detection and Treatment of Endocrine Abnormalities in Childhood Cancer Survivors and Hematopoietic Stem Cell Transplant Recipients

Endocrine dysfunction is increasingly recognized as one of the most important aspects of quality of life issues, physical and psychosocial development and overall prognosis in pediatric patients diagnosed with neoplasms as well as in patients s/p bone marrow transplant throughout their lifespan. In addition, several of the new, molecularly designed ...

Phase N/A