About Chediak-Higashi Syndrome
Chediak-Higashi Syndrome is a rare autosomal recessive disorder caused by mutations in the LYST gene, resulting in defective intracellular vesicle trafficking that impairs lysosomal function across multiple cell types, most critically in cytotoxic lymphocytes and neutrophils. The syndrome is characterized by partial oculocutaneous albinism, recurrent pyogenic infections, progressive neurological deterioration, and a nearly universal risk of developing an accelerated phase resembling hemophagocytic lymphohistiocytosis. Allogeneic hematopoietic stem cell transplantation can stabilize the immunological and hematological manifestations but does not prevent or reverse neurological progression.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Chediak-Higashi Syndrome trials.
Accelerated phase status is a medical emergency and typically triggers urgent transplant referral rather than trial enrollment; confirm current disease phase with treating hematologist
Neurological assessment including nerve conduction studies should be documented, as neurological endpoint measures are increasingly used in natural history studies
LYST mutation confirmation by molecular testing is required for most trials; prenatal or neonatal genetic reports should be located and shared
Patient Resources
Find recruiting Chediak-Higashi Syndrome trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Chediak-Higashi Syndrome. Updated daily.