Chediak-Higashi SyndromeNCT00005917
Study of Chediak-Higashi Syndrome
An observational study of Chediak-Higashi Syndrome, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and eventual progression to a lymphohistiocytic infiltration known as the… Read more about this study
- Who is it for?
- Ages 1 month to 70 years
- Conditions the study is for
- Chediak-Higashi Syndrome
- How many people
- 60 participants
- Where
- 1 siteUnited States
- Study dates
- 10 Sep 2002to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 70 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients entering this study will have clinical features suggestive of CHS. Objective evidence of a platelet storage pool deficiency (e.g., an abnormal secondary aggregation response or absent platelet dense bodies) or of a lysosomal fusion abnormality (e.g., giant cytoplasmic granules in leucocytes) will not be required.@@@
- ELIGIBILITY:
Patients will be between the age of 1 month and 70 years. All patients entering this study will have some degree of oculocutaneous albinism plus either a bleeding diathesis or a history of excessive infections in childhood. Objective evidence of a platelet storage pool deficiency (e.g., an abnormal secondary aggregation response or absent platelet dense bodies) or of a lysosomal fusion abnormality (e.g., giant cytoplasmic granules in leucocytes) will not be required.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Investigations Into Chediak-Higashi Syndrome and Related Disorders
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and eventual progression to a lymphohistiocytic infiltration known as the accelerated phase . Death often occurs within the first decade as a result of infection or the development of the accelerated phase; bone marrow transplantation is curative except for the late occurrence of neurological deterioration. The basic defect is unknown, although it probably involves abnormal fusion or trafficking of intracellular vesicles. Patients with classical CHS have their disease due to mutations in the LYST gene, but mildly affected individuals have been reported whose genetic defect has not been defined. It is likely that these variants of CHS have abnormalities in proteins involved in the pathways responsible for vesicle fusion. Since the full clinical spectrum of CHS and its variants has not been characterized, and the underlying defects remain enigmatic, we plan to evaluate this group of patients clinically, biochemically, and molecularly, and perform cell biological studies on their fibroblasts, melanocytes, and transformed lymphoblasts. Routine admissions will be 5 days and may occur every two years, or required by changes in clinical symptomatology.
Read the detailed description
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often progression to a lymphohistiocytic infiltration known as the accelerated phase . Death generally occurs within the first decade as a result of infection or the development of the accelerated phase; bone marrow transplantation is curative except for the late occurrence of neurological deterioration. However, our research has identified mildly affected individuals who present primarily with a neurological phenotype characterized by central and peripheral nervous system involvement. In addition, classical cases treated with bone marrow transplant (BMT) and surviving into adulthood usually develop neurological symptoms adding relevance to the study of pathophysiology of this disease outside of the hematological and immune systems. The only gene known to be associated with CHS is LYST; however, there are some patients with CHS in whom mutations have not been found, suggesting locus heterogeneity. A genotype-phenotype correlation had begun to emerge, but recent reports noted exceptions to this correlation. The basic defect is unknown, although it probably involves abnormal fusion or trafficking of intracellular vesicles. With regards to neurologic involvement, LYST likely also plays a role in neuronal axonal transport and neurotransmitter pools. We plan to evaluate individuals with CHS clinically, biochemically, and molecularly, and perform cell biological studies on their fibroblasts, melanocytes, and transformed lymphoblasts. Routine admissions may be 3-5 days and may occur every one to two years, or as required by changes in clinical symptomatology.
- Conditions
- Chediak-Higashi Syndrome
- Keywords
- Albinism, Giant Granules, Infection, Melanosomes, Platelet Storage Pool Defect, Natural History
- Medical subject headings
- Chediak-Higashi Syndrome, Albinism, Infections, Platelet Storage Pool Deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Chediak-Higashi Syndrome | Confirmed or suspected patients with Chediak-Higashi Syndrome. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Delineate the clinical and laboratory findings of CHS and its variants.
Delineate the clinical and laboratory findings of CHS and its variants.
Measured: 4-5 days every 1-2 years
Secondary outcomes (1)
Mutation analysis of the LYST gene will be performed, to further delineate genotype/phenotype correlations and or locus heterogeneity.
Mutation analysis of the LYST gene will be performed, to further delineate genotype/phenotype correlations and or locus heterogeneity.
Measured: 4-5 days every 1-2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jun 2000 (estimated)
- Study start10 Sep 2002
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Chediak-Higashi SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Wendy J Introne, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00005917
- Sponsor's protocol ID
- 000153
- Other IDs
- 00-HG-0153
- Status last verified
- 28 May 2026
- First submitted
- 16 Jun 2000
- Last updated
- 28 Aug 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: This data will be deidentified.
Study at a glance
From the registry record, last updated by the sponsor on 28 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigations Into Chediak-Higashi Syndrome and Related Disorders
- ClinicalTrials.gov ID
- NCT00005917
- Acronym / sponsor ID
- 000153
- Conditions
- Chediak-Higashi Syndrome
- Keywords
- Albinism, Giant Granules, Infection, Melanosomes, Platelet Storage Pool Defect, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 10 Sep 2002 (actual)
- First posted
- 19 Jun 2000 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and eventual progression to a lymphohistiocytic infiltration known as the accelerated phase . Death often occurs within the first decade as a result of infection or the development of the accelerated phase; bone marrow transplantation is curative except for the late occurrence of neurological deterioration. The basic defect is unknown, although it probably involves abnormal fusion or trafficking of intracellular vesicles. Patients with classical CHS have their disease due to mutations in the LYST gene, but mildly affected individuals have been reported whose genetic defect has not been defined. It is likely that these variants of CHS have abnormalities in proteins involved in the pathways responsible for vesicle fusion. Since the full clinical spectrum of CHS and its variants has not been characterized, and the underlying defects remain enigmatic, we plan to evaluate this group of patients clinically, biochemically, and molecularly, and perform cell biological studies on their fibroblasts, melanocytes, and transformed lymphoblasts. Routine admissions will be 5 days and may occur every two years, or required by changes in clinical symptomatology.
Detailed description
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often progression to a lymphohistiocytic infiltration known as the accelerated phase . Death generally occurs within the first decade as a result of infection or the development of the accelerated phase; bone marrow transplantation is curative except for the late occurrence of neurological deterioration. However, our research has identified mildly affected individuals who present primarily with a neurological phenotype characterized by central and peripheral nervous system involvement. In addition, classical cases treated with bone marrow transplant (BMT) and surviving into adulthood usually develop neurological symptoms adding relevance to the study of pathophysiology of this disease outside of the hematological and immune systems. The only gene known to be associated with CHS is LYST; however, there are some patients with CHS in whom mutations have not been found, suggesting locus heterogeneity. A genotype-phenotype correlation had begun to emerge, but recent reports noted exceptions to this correlation. The basic defect is unknown, although it probably involves abnormal fusion or trafficking of intracellular vesicles. With regards to neurologic involvement, LYST likely also plays a role in neuronal axonal transport and neurotransmitter pools. We plan to evaluate individuals with CHS clinically, biochemically, and molecularly, and perform cell biological studies on their fibroblasts, melanocytes, and transformed lymphoblasts. Routine admissions may be 3-5 days and may occur every one to two years, or as required by changes in clinical symptomatology.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Chediak-Higashi Syndrome | – | –Confirmed or suspected patients with Chediak-Higashi Syndrome. |
Who may qualify
- Ages
- 1 month to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients entering this study will have clinical features suggestive of CHS. Objective evidence of a platelet storage pool deficiency (e.g., an abnormal secondary aggregation response or absent platelet dense bodies) or of a lysosomal fusion abnormality (e.g., giant cytoplasmic granules in leucocytes) will not be required.@@@
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Delineate the clinical and laboratory findings of CHS and its variants.
Time frame: 4-5 days every 1-2 years
Delineate the clinical and laboratory findings of CHS and its variants.
1 secondary outcome
Mutation analysis of the LYST gene will be performed, to further delineate genotype/phenotype correlations and or locus heterogeneity.
Time frame: 4-5 days every 1-2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Aug 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. This data will be deidentified.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Wendy J Introne, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Chediak-Higashi Syndrome, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 28 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Wendy J Introne, M.D. ((301) 451-8879, wi2p@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Delineate the clinical and laboratory findings of CHS and its variants. (time frame: 4-5 days every 1-2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Aug 2026.