Genetic Analysis of Immune Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-101
SponsorNational Institute of Allergy and Infectious Diseases (NIAID)
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
INCLUSION /
Disqualifiers
None
Trial population
Probands and their blood relatives, of any age, sex, and ethnicity, who are affected, or suspected of being affected with genetic conditions and immune dysregulations under study are eligible to enroll as patients or family member enrollees. Fetal samples may be studied in selected cases where benefit, such as expedited postnatal treatment, could be realized.
Trial design
Design model
Other
Time perspective
Cross-sectional
Treatments tested in this trial
Not listed
Trial groups
5,000 Participants
are grouped into 2 trial groupsGroup A: Blood relatives
Group B: Proband
Trial outcomes
Primary outcomes
1
To search for modifiers of phenotype in subjects with disorders of the immune system in which penetrance and expressivity are variable.
Greater understanding of the variable penetrance and expressivity of modifiers of phenotype in subjects with disorders of the immune system
Time frame
blood draw and testing once or can be repeated2
genetic testing for known or suspected mutations related to primary immune deficiencies
diagnosis of genetic mutations or deficiencies causing rare primary immune diseases under study
Time frame
blood draw and testing once or can be repeatedSecondary outcomes
1
To track the natural history of disease outcome in selected disorders.
understanding of natural history of selected disorders
Time frame
over time via history and assignment to other protocols2
To perform genotype/phenotype analysis in subjects with immune defects of known genetic cause, leading to basic research on interactions between components of receptors in immune system pathways.
understanding of interactions between components of receptors in immune system pathways in immune defects of know genetic cause
Time frame
blood draw and testing once or can be repeated3
To identify by clinical and laboratory studies, including mutation detection in patients and healthy relatives who may be carriers, subjects who may be eligible for related protocols or who may derive clinical benefit from molecular diagnosis.
To follow patients and relatives that are affected or carriers of genetic defects over time and gain of further understanding of the natural history of diseases/conditions of the immune system.caused by genetic mutations/deficiencies
Time frame
upon known or suspected diagnosisSponsors and contacts
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Source ClinicalTrials.gov