NCT03950804: CHAPLEOMIC

Transcriptome and Metabolic Analyses of CHAPLE Disease

Status unknown Last updated 14 August 2019

What this trial tests

trial testing Eculizumab Injection in CD55 - Cluster of Differentiation Antigen 55 Deficiency in 60 participants. Status unknown.

Timeline

15 June 2018

Primary endpoint
15 September 2019

15 June 2020

Quick facts

Lead sponsor	Marmara University
Status	Status unknown
Study type	OBSERVATIONAL
Enrollment	60
Start date	15 June 2018
Primary completion	15 September 2019
Estimated completion	15 June 2020
Sites	1 location across Turkey (Türkiye)

Drugs / interventions tested

• Eculizumab Injection — full drug profile →

Conditions studied

• CD55 - Cluster of Differentiation Antigen 55 Deficiency — all drugs for CD55 - Cluster of Differentiation Antigen 55 Deficiency →
• Primary Intestinal Lymphangiectasis — all drugs for Primary Intestinal Lymphangiectasis →
• Protein-Losing Enteropathies — all drugs for Protein-Losing Enteropathies →
• Complement Regulatory Factor Defect — all drugs for Complement Regulatory Factor Defect →

Sponsor

Marmara University

Who can join

Under 60, any sex, with CD55 - Cluster of Differentiation Antigen 55 Deficiency or Primary Intestinal Lymphangiectasis. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

1. Treatment of Rare Inflammatory Kidney Diseases: Drugs Targeting the Terminal Complement Pathway.
   Anliker-Ort M, Dingemanse J, van den Anker J, Kaufmann P. · · 2020 · cited 33× · PMID 33362783 · DOI 10.3389/fimmu.2020.599417
2. Emerging Role of C5 Complement Pathway in Peripheral Neuropathies: Current Treatments and Future Perspectives.
   Giorgio C, Zippoli M, Cocchiaro P, Castelli V, et al · · 2021 · cited 29× · PMID 33917266 · DOI 10.3390/biomedicines9040399