Understanding H Syndrome and its Treatment Responses
Histiocytosis and Inflammatory Manifestations in Patients with H Syndrome- a Multinational Collaboration
This study looks at how people with H syndrome respond to different treatments to better understand the condition and improve care for those affected.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 120 (estimated) |
| Sex | All |
| Sponsor | Rabin Medical Center Academic / other |
| Drugs / interventions | tocilizumab |
| Locations | 1 site (Petah Tikva) |
| Trial ID | NCT06742073 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on H syndrome, a rare genetic disorder that predisposes patients to histiocytosis due to mutations in the SLC29A3 gene. The study aims to comprehensively assess the clinical manifestations and treatment responses of a multinational cohort of patients diagnosed with H syndrome. By analyzing data from these patients, the researchers hope to identify patterns in treatment efficacy and improve understanding of the disease's clinical spectrum. The study builds on previous findings that suggest a novel signaling pathway involved in the disease's pathology.
Who should consider this trial
Good fit: Ideal candidates for this study are patients with a genetically confirmed diagnosis of H syndrome.
Not a fit: Patients without a confirmed genetic diagnosis of H syndrome will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved treatment strategies for patients with H syndrome.
How similar studies have performed: While there have been isolated case reports of treatment success, this study represents a novel approach to understanding H syndrome and its treatment.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: Any patient with a genetically confirmed diagnosis of H syndrome - Exclusion Criteria: \-
Where this trial is running
Petah Tikva
- Schneider Children's Medical Center — Petah Tikva, Israel (Recruiting)
Study contacts
- Study coordinator: Sarah Elitzur, MD
- Email: sarhae@clalit.org.il
- Phone: +97239253766
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.