Apolipoprotein Deficiency Research Study
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Apolipoprotein Deficiency Research Study - Diagnosis and Followup Protocol
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If you have a mutation in a plasma apolipoprotein (the protein portion of a lipoprotein), you are invited to participate in a study that will evaluate the development and follow the natural history of atherosclerosis in your disorder. Many apolipoprotein mutations have been described including apolipoprotein A-I (apoA-I), apolipoprotein A-II (apoA-II), apolipoprotein B (apoB), apolipoprotein C-I (apoC-I), apolipoprotein C-II (apoC-II), apolipoprotein C-III (apoC-III) and apolipoprotein E (apoE). A variety of clinical and research techniques will be used to assess and follow the development of atherosclerosis. Recommendations for treatments will be provided based upon these findings.
Eligible persons will undergo a comprehensive evaluation. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In most cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel or medical testing.
For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov).
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Disease and Treatment Information |
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Cholesteryl Ester Storage Disease Research Study
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Cholesteryl Ester Storage Disease (CESD) Research Study - Diagnosis and Followup Protocol
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If you have Cholesteryl Ester Storage Disease (CESD), you are invited to participate in a study in an attempt to diagnose and follow your disorder. Most patients have an enlarged liver and spleen (hepatosplenomegaly) and abnormal liver enzymes (AST and ALT) in the first year of life. Confirmation of the disorder is made by the absence of acid lysosomal lipase activity in a skin or liver biopsy.
Eligible persons will undergo a comprehensive evaluation at no cost to you. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In many cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel and for some of your medications.
For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov).
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Disease and Treatment Information |
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Chylomicron Retention Disease Research Study
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Chylomicron Retention Disease Research Study - Diagnosis and Followup Protocol
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If you have Chylomicron Retention disease, you are invited to participate in a study in an attempt to diagnose and follow your disorder. Most patients will present with diarrhea, fat malabsorption, growth delay, and neurologic symptoms (decreased deep tendon reflexes, vibration). Patients frequently have a total cholesterol ranging from 50-100 mg/dL and half normal low density lipoproteins (LDL) levels. Fat soluble vitamin levels may be decreased.
Eligible persons will undergo a comprehensive evaluation at no cost to you. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In many cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel and for some of your medications.
for further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov ).
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Disease and Treatment Information |
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Dysbetalipoproteinemia (Type III) Research Study
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Dysbetalipoproteinemia (Type III) Research Study - Diagnosis and Followup Protocol
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If you have Dysbetalipoproteinemia (Type III), you are invited to participate in a study in an attempt to diagnose and follow your disorder. There are several known causes of Dysbetalipoproteinemia and they include the E2E2 isoforms of apolipoprotein E (apoE), a mutation in apoE or apoE deficiency. Most untreated patients have a total cholesterol and triglycerides of 400-500 mg/dL. Some patients present with cholesterol deposits across the creases of their hands (palmar xanthomas), tuberous xanthomas on the elbows or knees and occasionally on the achilles tendon.
Eligible persons will undergo a comprehensive evaluation at no cost to you. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In many cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel and for some of your medications.
For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov ).
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Disease and Treatment Information |
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HDL < 15 mg/dL Research Study
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Hypoalphalipoproteinemia Research Study - Diagnosis and Followup Protocol
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If you have hypoalphalipoproteinemia with a high density lipoprotein (HDL) <15 mg/dL, you are invited to participate in a study in an attempt to diagnose and follow your disorder. There are several known causes of low HDL and they include Tangier disease, LCAT deficiency, and Fish Eye disease. However, many causes of low HDL have yet to be discovered. You are not eligible for participation if you have other causes of lipid disorders that lead to low HDL such as liver and thyroid disorders. You are not eligible if you have the "metabolic syndrome" with obesity, hypertension, diabetes, and hypertriglyceridemia (triglycerides >500 mg/dL) with an HDL that ranges from 10-15 mg/dL.
Eligible persons will undergo a comprehensive evaluation at no cost to you. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In many cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel and for some of your medications.
For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov).
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Disease and Treatment Information |
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HDL > 90 mg/dL Research Study
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Hyperalphalipoproteinemia Research Study - Diagnosis and Followup Protocol
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If you have hyperalphalipoproteinemia with high density lipoprotein (HDL) >90 mg/dL, you are invited to participate in a study in an attempt to diagnose and follow your disorder. There are several known causes of high HDL and they include Cholesteryl Ester Transfer Protein deficiency (CETP deficiency) and Hepatic Lipase deficiency. However, many causes of high HDL are unknown and are currently being investigated.
Eligible persons will undergo a comprehensive evaluation at no cost to you. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In many cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel and for some of your medications.
For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov ).
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Disease and Treatment Information |
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LDL < 20 mg/dL Research Study
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LDL <20 mg/dL Research Study - Diagnosis and Followup Protocol
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If you have a low density lipoprotein (LDL) level in blood of less than 20 mg/dL, you are invited to participate in a study in an attempt to diagnose and follow your disorder. There are several known causes of low cholesterol and they include abetalipoproteinemia and hypobetalipoproteinemia. However, many causes of low LDL have yet to be discovered.
Eligible persons will undergo a comprehensive evaluation at no cost to you. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In many cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel and for some of your medications.
For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov ).
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Disease and Treatment Information |
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LDL > 500 mg/dL Research Study
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Homozygous Familial Hypercholesterolemia Research Study
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If you have homozygous familial hypercholesterolemia (FH), you are invited to participate in a study that will evaluate the development and follow the natural history of atherosclerosis in your disorder. A variety of clinical and research techniques will be used to assess and follow the development of atherosclerosis. Recommendations for treatments will be provided based upon these findings.
Persons with homozygous familial hypercholesterolemia typically have a total and low density lipoprotein (LDL) cholesterol concentration greater than 700 mg/dL with normal triglycerides. Cholesterol deposits called xanthomas are frequently present in the first few years of life and are located on the elbows, knees, between the webs of the fingers and on the Achilles tendons.
Eligible persons will undergo a comprehensive cardiac evaluation. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In most cases, you will be invited back for yearly evaluations. There is no cost to you for travel or medical testing.
For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov.
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Disease and Treatment Information |
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Sitosterolemia Research Study
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Sitosterolemia Research Study - Treatment with Ezetimibe (SCH-58235)
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If you have homozygous sitosterolemia, you are invited to participate in a study that will evaluate a new investigation drug that inhibits cholesterol absorption. Ezetimibe (SCH-58235) reduces plant sterol concentrations in patients with sitosterolemia with short term treatment. Ezetimibe was well tolerated in these patients. The long term safety and benefit is being evaluated in this one year study.
Sitosterolemia should be suspected in children with hypercholesterolemia, tuberous and tendinous xanthomas, recurrent arthritis and an unusually good improvement in cholesterol levels due to diet and a bile acid resin binder.
Eligible persons will undergo a comprehensive evaluation. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In most cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel, medical testing or the ezetimibe.
For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov ).
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Disease and Treatment Information |
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Total Cholesterol < 50 mg/dL Research Study
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Total Cholesterol <50 mg/dL Research Study - Diagnosis and Followup Protocol
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If you have a total cholesterol <50mg/dL (Hypocholesterolemia), you are invited to participate in a study in an attempt to diagnose and follow your disorder. There are several known causes of low cholesterol, including abetalipoproteinemia and hypobetalipoproteinemia. However, many causes of low cholesterol have yet to be discovered.
Eligible persons will undergo a comprehensive evaluation at no cost to you. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In many cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel and for some of your medications.
For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov ).
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Disease and Treatment Information |
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Triglycerides < 50 mg/dL Research Study
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Triglycerides <50 mg/dL Research Study - Diagnosis and Followup Protocol
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If you have triglycerides <50 mg/dL, you are invited to participate in a study in an attempt to diagnose and follow your disorder. There are several known causes of low triglycerides and they include Abetalipoproteinemia and Hypobetalipoproteinemia. However, many causes of low triglycerides that have yet to be discovered.
Eligible persons will undergo a comprehensive evaluation at no cost to you. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In many cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel and for some of your medications.
For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov ).
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Disease and Treatment Information |
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Triglycerides > 1,500 mg/dL Research Study
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Triglycerides >1,500 mg/dL Research Study - Diagnosis and Followup Protocol
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If you have triglycerides >1,500 mg/dL (hypertriglyceridemia) that occurred before you were 25 years old or had pancreatitis as a child with elevated triglycerides, you are invited to participate in a study in an attempt to diagnose and follow your disorder. There are several known causes of high triglycerides in childhood and they include Lipoprotein Lipase (LPL) deficiency and Apolipoprotein C-II (apoC-II) deficiency. However, other causes of high triglycerides in childhood have yet to be discovered. You are not eligible if the high triglycerides occurred only in adulthood (>30 years), or if you are an adult with obesity, diabetes, or drink excessive alcohol.
Eligible persons will undergo a comprehensive evaluation at no cost to you. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In many cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel and for some of your medications.
For further information please contact our research coordinator (tel. 301-496-1500, e-mail: LipidStudy@nhlbi.nih.gov).
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Disease and Treatment Information |
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Department of Health
and Human Services
National
Institutes of Health
National Heart, Lung, and Blood
Institute