Histiocytosis and Inflammatory Manifestations in Patients with H Syndrome
ConditionH Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorRabin Medical Center
About this trial
H syndrome is a rare genetic disorder predisposing to histiocytosis. Our knowledge of the clinical spectrum of these patients is based on case reports and small patient series. Patients with H syndrome have been treated with a range of immunomodulatory and chemotherapeutic agents, with limited success. We aim to comprehensively assess the clinical manifestations and patterns of treatment response in a multinational cohort of patients with H syndrome.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
None
Disqualifiers
None
Trial population
Any patient with a genetically confirmed diagnosis of H syndrome (two pathogenic or likely pathogenic germline SLC29A3 variants)
Trial design
Design model
Cohort
Time perspective
Retrospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Response to therapy
complete response/partial response/stable disease/progressive disease
Time frame
6 monthsSponsors and contacts
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Source ClinicalTrials.gov