Study of Chediak-Higashi Syndrome
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|ClinicalTrials.gov Identifier: NCT00005917|
Recruitment Status : Recruiting
First Posted : June 19, 2000
Last Update Posted : April 22, 2021
|Condition or disease|
|Chediak Higashi Syndrome|
|Study Type :||Observational|
|Estimated Enrollment :||60 participants|
|Official Title:||Investigations Into Chediak-Higashi Syndrome and Related Disorders|
|Actual Study Start Date :||May 30, 2000|
Confirmed or suspected patients with Chediak-Higashi Syndrome.
- 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.
- 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 ]Mutation analysis of the LYST gene will be performed, to further delineate genotype/phenotype correlations and or locus heterogeneity.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00005917
|Contact: Wendy J Introne, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Wendy J Introne, M.D.||National Human Genome Research Institute (NHGRI)|