About X-Linked Agammaglobulinemia
X-Linked Agammaglobulinemia is caused by loss-of-function mutations in Bruton's tyrosine kinase (BTK), resulting in a complete or near-complete arrest of B-cell development at the pro-B-cell stage and virtual absence of circulating B cells and all immunoglobulin classes. Affected males present in infancy with recurrent bacterial infections once transplacentally acquired maternal IgG has cleared, and require lifelong immunoglobulin replacement therapy. Carrier females are clinically unaffected but may transmit the condition to half of their sons.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to X-Linked Agammaglobulinemia trials.
BTK molecular confirmation is required for most trials; ensure genetic testing report specifying the pathogenic BTK variant is available
BTK inhibitor trials originally developed for B-cell malignancies are being explored in XLA — BTK inhibitor naive status may be an eligibility criterion
Trials enrolling male patients only are common given X-linked inheritance; female carriers are generally not eligible for interventional arms
Patient Resources
Find recruiting X-Linked Agammaglobulinemia trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for X-Linked Agammaglobulinemia. Updated daily.