This study is NOT currently recruiting participants.
Number
00-HG-0209
Sponsoring Institute
National Human Genome Research Institute (NHGRI)
Recruitment Detail
Type: No longer recruiting/follow-up only Gender: Male & Female Min Age: 3 Max Age: N/A
Referral Letter Required
Yes
Population Exclusion(s)
None
Keywords
X-Linked Agammagloblinemia; Wiskott-Aldrich Syndrome; Jak-3 SCID; X-Linked SCID; X-Linked Hyper-IgM Syndrome; Natural History
Recruitment Keyword(s)
Condition(s)
Wiskott- Aldrich Syndrome; ADA deficient SCID
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Human Genome Research Institute
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.
--Back to Top--
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.
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.
Principal Investigator
Referral Contact
For more information: