RecruitingNCT07328178
Immune
X-Linked Agammaglobulinemia
Also known as XLA, Bruton agammaglobulinemia, BTK deficiency
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
ORPHA:47 ↗Gene BTKPrevalence 1 in 200,000-250,000 male birthsOnset Infancy, typically 6-18 months after maternal antibody wanesPrimary antibody deficiency (B-cell)
1
studies recruiting now
as of 7 Sept 2026
18
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
9 Jan 2026
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
Search all X-Linked Agammaglobulinemia studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new X-Linked Agammaglobulinemia study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: USIDNET Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
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
Recurrent bacterial otitis media and sinusitisAbsence of palpable lymph nodes and tonsilsNear-absent serum immunoglobulins (all isotypes)Susceptibility to enteroviral encephalitisRecurrent pneumonia and bronchiectasisArthritis (septic or reactive)Failure to respond to polysaccharide vaccines
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Hyaluronidase (Human Recombinant) (Cumulase)
Phase 3Human Immunoglobulin G (Flebogamma dif (previously flebogammadif))
Before you apply
Things trial teams commonly ask about for X-Linked Agammaglobulinemia. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).