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Histiocytosis and Inflammatory Manifestations in Patients with H Syndrome

NCT ID: NCT06742073

Last Updated: 2024-12-19

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

120 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-11-01

Study Completion Date

2026-08-01

Brief Summary

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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.

Detailed Description

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H syndrome is a rare inflammatory genetic disorder predisposing to histiocytosis, caused by germline biallelic loss-of-function mutations in SLC29A3, encoding the protein equilibrative nucleoside transporter 3 (ENT3). ENT3 transports nucleosides from lysosomes to the cytoplasm following lysosomal degradation of nucleic acids. Results from our previous study (under review) suggest a model in which impaired nucleoside trafficking aberrantly activates nucleoside-sensing Toll-like receptors, leading to persistent activation of ERK, driving histiocytosis. This constitutes a novel signaling pathway leading to activation of ERK and histiocytosis, in the absence of somatic mutations in MAPK cascade genes. Our knowledge of the heterogenous 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. Improvement following therapy with tocilizumab, an IL6-receptor antibody, has recently been reported in isolated case reports. There is a lack of data on MEK inhibitor therapy in these patients. We aim to comprehensively assess the clinical manifestations and patterns of treatment response in a multinational cohort of patients with H syndrome.

Conditions

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H Syndrome

Keywords

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SLC29A3

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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Exclusion Criteria

\-
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Rabin Medical Center

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Sarah Elitzur, MD

Role: STUDY_DIRECTOR

Schneider Children'ds Medical Center

Locations

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Schneider Children's Medical Center

Petah Tikva, , Israel

Site Status RECRUITING

Countries

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Israel

Central Contacts

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Sarah Elitzur, MD

Role: CONTACT

Phone: +97239253766

Email: [email protected]

Naomi Litichever, PhD

Role: CONTACT

Phone: +97239253705

Email: [email protected]

Facility Contacts

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Sarah Elitzur, MD

Role: primary

Naomi Litichever, PhD

Role: backup

Other Identifiers

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RMC-0230-24

Identifier Type: -

Identifier Source: org_study_id