Transcriptome and Metabolic Analyses of CHAPLE Disease (CHAPLEOMIC)
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|ClinicalTrials.gov Identifier: NCT03950804|
Recruitment Status : Recruiting
First Posted : May 15, 2019
Last Update Posted : August 14, 2019
|Condition or disease||Intervention/treatment|
|CD55 - Cluster of Differentiation Antigen 55 Deficiency Primary Intestinal Lymphangiectasis Protein-Losing Enteropathies Complement Regulatory Factor Defect||Drug: Eculizumab Injection|
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||60 participants|
|Target Follow-Up Duration:||24 Months|
|Official Title:||Transcriptome and Metabolic Analyses of CHAPLE Disease Patients With or Without Eculizumab Treatment|
|Actual Study Start Date :||June 15, 2018|
|Estimated Primary Completion Date :||September 15, 2019|
|Estimated Study Completion Date :||June 15, 2020|
CHAPLE patients, without eculizumab treatment
Patients with suspected CHAPLE syndrome undergo flow-cytometry based CD55 surface staining of peripheral blood samples. Those patients with loss of CD55 protein expression are diagnosed with CHAPLE syndrome. A subgroup of the CHAPLE patients describe only mild symptoms and are not treated with eculizumab, but monitored closely for any disease progression.
Control subjects- no intervention
Healthy subjects with no history of any chronic disease. All investigational analyses are performed on both the case and the control subjects. Therefore, the same type of biological specimens collected from the case group are collected from the control group simultaneously.
PIL patients with intact CD55 on flow-cytometry assesment undergo genetic testing to exclude a potential missense mutation in the CD55 gene that impairs its function while retaining protein expression. Overall, patients and their parents undergo exome sequencing as trios, and examined for potential gene mutations underlying their disease. Non-CHAPLE PILs are also examined by high-throughput investigation similarly to CHAPLE patients.
CHAPLE patients on eculizumab
Among CHAPLE patients, there is a subgroup who receive eculizumab treatment. These patients are prospectively followed and biological samples collected at baseline as well as periodically under therapy. Eculizumab (Soliris) is being provided for CHAPLE patients on an off-label basis upon approval of the physician's request of the drug by Turkish Medicines and Medical Devices Agency (TMMDA) of Turkish Ministry of Health. The dosage and interval of the drug is determined according to manufacturer's recommendations based on the weight of the patients.
Drug: Eculizumab Injection
Patients receive eculizumab as deemed necessary by the primary physician
Other Name: Soliris
- Reversal of protein-losing enteropathy [ Time Frame: 3-6 months ]Serum levels of blood proteins should be normalized. At least 2 out of 3 parameters including albumin, total protein and immunoglobulin G should reach age-specific normal range.
- Reversal of patient-specific major symptoms [ Time Frame: 12-18 months ]The major symptoms are variable in CHAPLE patients. The symptoms present in a particular patient should be corrected under therapy.
- Reversal of other systemic components of the disease. [ Time Frame: 12-18 months ]E.g., thrombosis, enterocolitis, micronutrient deficiency, etc.
- Correction of previous biochemical and radiological abnormalities [ Time Frame: 6-18 months ]E.g., micronutrient deficiency, thrombocytosis; bowell wall thickening, contrast enhancement, recanalization of a thrombotic vessel segment, etc.
- Cessation of previous medications [ Time Frame: 3-18 months ]Continueed need for previous medications to treat various manifestations of CHAPLE syndrome will be monitored
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03950804
|Contact: Ahmet O Özen, M.D.||email@example.com|
|Contact: Nurhan Kasap, M.D.||firstname.lastname@example.org|
|Study Director:||Michael J Lenardo, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|