UnknownNot Applicable

Molecular and Clinical Studies of Primary Immunodeficiency Diseases

United States266 participantsStarted 2000-10-25

Plain-language summary

This study will try to identify mutations in the genes responsible for primary immunodeficiency disorders (inherited diseases of the immune system) and evaluate the course of these diseases in patients over time to learn more about the medical problems they cause. The immune system is composed of various cells (e.g., T and B cells and phagocytes) and other substances (complement system) that protect the body from infections and cancer. Abnormalities in the gene(s) responsible for the function of these components can lead to serious infections and other immune problems. Patients with Wiskott-Aldrich syndrome, adenosine deaminase (ADA) deficiency. Participants will undergo a medical and family history, physical examination, and additional procedures and tests that may include the following: 1. Blood tests for: routine laboratory studies (i.e. cell counts, enzyme levels, electrolytes, etc.); HIV testing; immune response to various substances; genetic testing; and establishment of cell lines to maintain a supply of cells for continued study 2. Urine and saliva tests for biochemical studies 3. Skin tests to assess response to antigens such as the viruses and bacteria responsible for tetanus, candida, tuberculosis, diphtheria, chicken pox, and other diseases. 4. Skin and lymph node biopsies for tissue and DNA studies 5. Chest X-ray, CT scans, or both to look for cancer or various infections. 6. Pulmonary function test to assess lung capacity and a breath test to test for H. pylori infection. 7. Dental, skin and eye examinations. 8. Treatment with intravenous immunoglobulins or antibodies to prevent infections. 9. Apheresis for collecting white blood cells to study cell function. In this procedure, whole blood is collected through a needle placed in an arm vein. The blood circulates through a machine that separates it into its components. The white cells are then removed, and the red cells, platelets and plasma are returned to the body, either through the same needle or through a second needle placed in the other arm. 10. Bone marrow sampling to study the disease. A small amount of marrow from the hipbone is drawn (aspirated) through a needle. The procedure can be done under local anesthesia or light sedation. 11. Placental and umbilical cord blood studies, if cord blood is available, to study stem cells (cells that form blood cells). Information gained from this study may provide a better understanding of primary immunodeficiencies, leading to better diagnosis and treatment. In addition, study participants may receive medical and genetic counseling and may be found eligible for other NIH studies on these diseases.

Who can participate

Age range

3 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* INCLUSION CRITERIA: Patients with a clinical history or signs and symptoms suggestive of a primary immune deficiency syndrome and their family members are eligible for inclusion in this study and they may be referred by their physician or self-referred. If possible, a local physician/clinical immunologist will be identified for self-referred patients to serve as primary reference. If screening of the patients, either by phone interview or review of their medical records indicates that the patient may have a primary immunodeficiency syndrome and is HIV-negative, the patient will be invited to come to the NIH and sign an informed consent. If family history is positive for immunodeficiency, the patients or family members may be asked to invite other relatives to contact the PI to participate in the study. Patients who were enrolled under such inclusion criteria may continue to be seen under the protocol under the medical advisory supervision of Dr. Harry Malech. New enrollments will be limited to children with established and verified diagnosis of ADA-SCID cared for by our collaborators at UCLA and from whom we will only receive blood samples. EXCLUSION CRITERIA: Inability of the subject or the subject s parent/guardian to provide informed consent. Patients infected with the Human Immunodeficiency Virus before enrollment.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

To broaden our current knowledge of the molecular basis, clinical presentation, evolution and outcome of primary immunodeficiencydiseases.

Timeframe: Ongoing

Trial details

NCT IDNCT00006319

SponsorNational Human Genome Research Institute (NHGRI)

Sponsor typeNIH

Study typeOBSERVATIONAL

View on ClinicalTrials.gov More Wiskott- Aldrich Syndrome trials