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Transcriptome and Metabolic Analyses of CHAPLE Disease

NCT03950804 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 60

Last updated 2019-08-14

No results posted yet for this study

Summary

CHAPLE syndrome (complement hyperactivation, angiopathic thrombosis, protein losing enteropathy) is a newly discovered genetic disorder, which is caused by deleterious mutations in the CD55 gene. Patients often suffer from chronic manifestations that may lead to life-threatening complications despite conventional treatment options.The cause of gastrointestinal protein loss is distorted lacteals in the gut, referred to as primary intestinal lymphangiectasia (PIL). There is a second group of patients with PIL with intact CD55, referred to here as "non-CHAPLE PIL". The current study aims to explore the signatures of CHAPLE and non-CHAPLE PILs, discover druggable molecular targets and identify biomarkers that can direct therapy. A subgroup of patients with CHAPLE syndrome receive treatment with a complement C5 blocker, eculizumab, on an off-label basis. This study involves serial transcriptome and metabolic profiling of biological samples under eculizumab therapy and correlates them with the clinical response. Overall, the aim of this research is to integrate clinical data and high-throughput metabolic profiling approaches to better characterize the etiology of PILs and develop novel therapeutic approaches.

Conditions

  • CD55 - Cluster of Differentiation Antigen 55 Deficiency
  • Primary Intestinal Lymphangiectasis
  • Protein-Losing Enteropathies
  • Complement Regulatory Factor Defect

Interventions

DRUG

Eculizumab Injection

Patients receive eculizumab as deemed necessary by the primary physician

Sponsors & Collaborators

  • National Institute of Allergy and Infectious Diseases (NIAID)

    collaborator NIH

  • Marmara University

    lead OTHER

Principal Investigators

  • Michael J Lenardo, M.D. · National Institute of Allergy and Infectious Diseases (NIAID)

Eligibility

Max Age
60 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2018-06-15
Primary Completion
2019-09-15
Completion
2020-06-15

Countries

  • Turkey (Türkiye)

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03950804 on ClinicalTrials.gov