RecruitingNCT00005917
Immune
Chediak-Higashi Syndrome
Also known as CHS, CHS1/LYST mutation, oculocutaneous albinism with immunodeficiency
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 cy
ORPHA:167 ↗Gene LYSTPrevalence Fewer than 500 cases reported worldwideOnset Early childhoodPrimary immunodeficiency with lysosomal trafficking defect
3
studies recruiting now
as of 7 Sept 2026
16
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
27 Aug 2020
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT04528355
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
RecruitingPhase 2NCT01962415
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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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
Partial oculocutaneous albinism (silver-gray hair, pale skin)Photophobia and nystagmusRecurrent pyogenic bacterial infectionsGiant peroxidase-positive granules in leukocytesProgressive peripheral neuropathyAccelerated phase hemophagocytosis (fever, hepatosplenomegaly, cytopenias)Increased bleeding tendency from platelet dysfunction
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Chediak-Higashi Syndrome. Not eligibility rules; those are set by each study.
- 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
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).