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Genetic Analysis of Immune Disorders Clinical Trials Info presented on Clinical Trials Search is not intended to be a substitute for certified medical advice, visits or professional assistance using a real physician. We are not physicians. Always consult your dr. about Genetic Analysis of Immune Disorders conditions. Clinical Trials Search.org is a site dedicated to listing clinical research studies in human subjects. Genetic Analysis of Immune Disorders Clinical research trials and Genetic Analysis of Immune Disorders health trials happen in many of localities throughout the U.S.. A clinical trial or clinical study is a research project with human volunteer subjects. Clinical drug trials and pharmaceutical clinical trials typically measure the effectualness of new drugs. The function of the studies / projects is to resolve particular human medical questions. Clinical trials are a popular manner for mDs, government agencies, and private sector corporations to discover remedies for all varieties of circumstances, like Genetic Analysis of Immune Disorders. Genetic Analysis of Immune Disorders Clinical Trials and other clinical trials allow volunteers to obtain healthcare treatment options before they are available to the masses. Some times the participants undergo professional assistance for free of charge, and occasionally they are paid for their time. Sometimes there is a cost for a Genetic Analysis of Immune Disorders clinical trial. Human subjects often get the best healthcare available for their Genetic Analysis of Immune Disorders condition. Dangers are a reality, however, and may include additional or frequent mD visits, healthcare dangers (potentially life-jeopardising), and/or the treatment being ineffectual. Trials are federally governed with rigorous guidelines to protect clinical trials patients.
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Home > "G" Clinical Trials Conditions > Genetic Analysis of Immune Disorders  Genetic Analysis of Immune Disorders
Genetic Analysis of Immune Disorders
For Condition: Healthy,Immunologic Deficiency Syndrome,Job's Syndrome,Severe Combined Immunodeficiency
Status: Recruiting
Sponsor(s): National Human Genome Research Institute (NHGRI) ,
Synopsis: The purposes of this study are to 1) identify the genes responsible for certain immune disorders, 2) learn about the medical problems they cause, and 3) learn how to predict who is likely to develop these disorders and what the risk is of passing them on to children. The immune system is the body's defense system. Some immune deficiencies impair a person's ability to fight infections; others render a person susceptible to allergies, or to autoimmune diseases such as lupus or arthritis, in which the immune cells (white blood cells) attack and destroy the body's own tissues. Patients with immune disorders known or suspected to have a genetic basis and their family members may enroll in this study. Eligibility will be determined by a review of the patient's medical records and family medical history. Participants will provide a small blood sample for genetic (DNA) and white blood cell analysis. Gene samples (but not white blood cells) may also be obtained by mouth brushing or skin biopsy. For the mouth brushing, a small brush is rubbed against the inside of the cheeks for 1 minute to wipe off some cells. For the skin biopsy, a small circle of skin (about 1/8 inch) is removed under local anesthetic. Pregnant women may be asked to provide a fetal sample (amniotic fluid cells or chorionic villus sample). All samples will be used for immune or genetic studies of the family's immune disorder. If test results show a specific genetic variation responsible for the family's immune disorder, a report will be sent to the patient's doctor or genetic counselor, who will discuss the implications for the family. NIH researchers and genetic counselors will also be available to explain results and answer questions. Information will not be available in the case of disorders that cannot yet be linked to a specific genetic abnormality. Information from this study will increase knowledge about the immune system and what causes immune deficiencies. Participants may also learn the underlying cause of an immune disorder that affects them or someone in their family-information may be useful in guiding treatment and in making decisions regarding family planning.
Details: Investigation of the causes of genetic defects of the immune system will be undertaken. These rare disorders result from inherited or newly arising mutations in genes involved in the development and function of leukocytes. As specific disease syndromes are recognized and the responsible genes identified, mutations in individual families can be identified. Correlation of mutation sites with clinical information will help determine how specific gene segments encode important functional protein domains. Families with immune disorders of known or suspected genetic basis will be enrolled. Genetic linkage studies will include all available family members, while immunologic and gene sequence analysis will be performed on affected individuals. Unaffected family members or unrelated normal individuals will serve as controls. The family members will be identified by the proband or proband's parent when the initial pedigree is taken. Subjects considered by the investigators to be appropriate for linkage studies will be invited to participate by the local genetics provider or by the investigators, who will then connect these members to their own local providers for enrollment. Prenatal samples will be considered for study in families in which a known genetic cause of immunodeficiency has been established and the means to make a diagnosis by linkage analysis or mutation detection are available. Normal individuals will be needed as controls for immunologic assays such as lymphocyte cell surface marker analysis.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: Persons of any age, gender and ethnicity are eligible to enroll as patients, family member enrollees, and control volunteers. Immunologic disorder or disorder of host defenses against infection of known or suspected genetic origin. Clinical summary and results of immunologic testing are required along with biopsy data, identification of infectious agents, treatment and outcome. Family members will be considered for certain disorders. Family pedigree must be provided.
Total Enrollment: 2204
Location and Contact Information:
National Human Genome Research Institute (NHGRI) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 950066; 95-HG-0066
Study Start Date: January 31, 1995
Record last reviewed: December 18, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00001467
Other Healthy Studies:
1. Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID
2. Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies
3. Genetic Analysis of Immune Disorders
4. Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) due to Adenosine Deaminase (ADA) Deficiency: A Natural History Study
5. Pilot Study of Allogeneic Bone Marrow Transplantation Plus Cyclosporine and Mycophenolate Mofetil to Induce Mixed Hematopoietic Chimerism in Patients With Primary T-Cell Immunodeficiency Disorders
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Genetic Analysis of Immune Disorders
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