Agammaglobulinemia, BTK Clinical Trial
X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency in which affected
patients have very low levels of peripheral B cells and a profound deficiency of all
immunoglobulin isotypes. Mutations in the gene encoding for Bruton's tyrosine kinase (Btk)
are responsible for most of the gammaglobulinemia.
We tend to investigate the gene mutation and clinical features of Chinese X-linked
agammaglobulinemia (XLA) patients, and also examined the relationship between specific Btk
gene mutations and severity of clinical presentation.
Status | Not yet recruiting |
Enrollment | 100 |
Est. completion date | |
Est. primary completion date | December 2016 |
Accepts healthy volunteers | No |
Gender | Male |
Age group | 1 Month to 18 Years |
Eligibility |
Inclusion Criteria: - Clinical diagnosis of XLA A.male patients with less than 2% CD19-positive B cells; B.recurrent bacterial infection; C.decreased or absent immunoglobulins in serum Exclusion Criteria for all groups: - Presence of other primary immunodeficiency syndromes that do not meet the clinical and laboratory criteria for XLA |
Observational Model: Cohort, Time Perspective: Prospective
Country | Name | City | State |
---|---|---|---|
China | Shanghai Children'S Medical Center | Shanghai | Shanghai |
Lead Sponsor | Collaborator |
---|---|
Shanghai Children's Medical Center |
China,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | times of pneumonia | 2 years | Yes |