Observing Chediak-Higashi Syndrome
Investigations Into Chediak-Higashi Syndrome and Related Disorders
National Institutes of Health Clinical Center (CC) · NCT00005917
This study looks at people with Chediak-Higashi syndrome to see how the condition affects them, especially those who have had a bone marrow transplant, in order to improve understanding and treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 60 (estimated) |
| Ages | 1 Month to 70 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) (nih) |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00005917 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on Chediak-Higashi syndrome (CHS), a rare genetic disorder characterized by oculocutaneous albinism, bleeding issues, and recurrent infections. The study aims to explore the clinical spectrum of CHS, including neurological involvement in patients who have survived bone marrow transplantation. It will assess patients aged 1 month to 70 years who exhibit symptoms of CHS, even if they do not have a confirmed genetic mutation. The research seeks to better understand the pathophysiology of CHS and its implications for treatment and management.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 1 month to 70 years with oculocutaneous albinism and either a bleeding diathesis or a history of excessive infections.
Not a fit: Patients without symptoms of Chediak-Higashi syndrome or those who do not meet the age criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Chediak-Higashi syndrome and improve management strategies for affected patients.
How similar studies have performed: While there have been studies on Chediak-Higashi syndrome, this specific observational approach to understanding its full clinical spectrum is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)
Study contacts
- Principal investigator: Wendy J Introne, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: Wendy J Introne, M.D.
- Email: wi2p@nih.gov
- Phone: (301) 451-8879
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Chediak-Higashi Syndrome, Albinism, Giant Granules, Infection, Melanosomes, Platelet Storage Pool Defect, Natural History