CD55 - Cluster of Differentiation Antigen 55 DeficiencyCHAPLEOMICNCT03950804
Transcriptome and Metabolic Analyses of CHAPLE Disease
An observational study of CD55 - Cluster of Differentiation Antigen 55 Deficiency and Primary Intestinal Lymphangiectasis, run by Marmara University at 1 site in Turkey (Türkiye).
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- CD55 - Cluster of Differentiation Antigen 55 Deficiency, Primary Intestinal Lymphangiectasis, Protein-Losing Enteropathies
- What is being tested?
- Eculizumab Injection
- Type of treatment
- Injection or infusion
- How many people
- 60 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 15 Jun 2018to 15 Jun 2020
- How long will I take part?
- 24 Months
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 60 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: All PIL patients, including CHAPLE and non-CHAPLE PILs are to be included in the study.Among the CHAPLE patients who receive eculizumab therapy a prospective follow-up is made. Age matched healthy subjects form the control group.
Who may be able to join
- Patients diagnosed with PIL form the study groups and deem eligible for the study unless there is a risk associated with blood draw.
- The patients with CHAPLE syndrome who receive eculizumab therapy and consent to participate in this study are followed prospectively and clinical data collected. Biological sample collection and molecular investigations are to be made only if the patient is willing to provide biological samples, including peripheral blood and stool.
Who cannot join
- Presence of a concomitant disease that leads to hypoproteinemia at the time of starting eculizumab such as a urinary protein loss or a hepatic disease that affects production of proteins by liver.
- A concomitant disease that leads to secondary intestinal lymphangiectasia such as a fontan procedure for congenital heart disease.
- Unstable clinical condition not allowing blood draw, such as severe anemia.
Trial locations and contacts
1 site in 1 country.
Turkey (Türkiye)1 site, 1 recruiting
- Recruiting
Marmara University
Istanbul
Ahmet O Özen, M.D., 905357400857, ahmet.ozen@marmara.edu.tr
Nurhan Kasap, M.D., 905357400857, mailto:n_aruci@hotmail.com
About this study
Official title: Transcriptome and Metabolic Analyses of CHAPLE Disease Patients With or Without Eculizumab Treatment
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.
Read the detailed description
CHAPLE syndrome is a newly discovered genetic disorder characterized by excessive loss of proteins in the gastrointestinal tract, referred to as protein-losing enteropathy. The disease typically presents in early childhood with facial and extremity edema in relation to hypoalbuminemia, chronic diarrhea, failure to thrive and, in extreme cases, severe thromboembolic disease that can lead to premature death. Patients afflicted with this newly discovered disease have been treated with conventional medications, including inflammatory bowel disease drugs to reduce gastrointestinal inflammation, albumin and immunoglobulin replacement therapy, dietary modification, supportive measures to supplement micronutrients and vitamins, surgery to remove affected intestinal segments, among others. These interventions have often provided only partial relief, with no capacity to alter the natural course of the disease.
CHAPLE syndrome is caused by loss of a complement regulatory protein due to deleterious mutations in the CD55 gene, which results in excessive activation of the complement system. Based on the scientific observations that complement hyperactivation is the primary event that underlies disease manifestations, it was hypothesized that complement inhibition therapy can potentially reverse the pathological processes. Through a compessionate program 3 CHAPLE patients from a single family have been treated with a complement C5 blocker antibody called eculizumab, with favorable response (Kurolap et al. PMID: 28657861). While these observations confirm the primary role of complement hyper activation in PIL associated with CHAPLE syndrome, the pathogenesis of PILs not related to CD55 deficiency (non-CHAPLE PIL) remains unknown. It is hypothesized that that there may be pathogenetic intersections between CHAPLE and non-CHAPLE PILs.
Following a clinical observation that eculizumab provides a rapid clinical relief in unrelated CHAPLE patients based in Turkey similar to Kurolap et al.'s report, researchers of this study decided to evaluate the clinical outcome of eculizumab among subsequent CHAPLE patients who are placed on this therapy. In parallel, molecular investigations on biological samples under eculizumab therapy are being carried to dissect the key alterations under complement C5 blockade.
The current study is based on use of high-throughput methods to investigate PILs, including exome sequencing (for the non-CHAPLE PILs), transcriptomics, proteome and microbiome investigations. The aims of the study include; 1. Discovery of signatures and biomarkers in CHAPLE, 2. Identification of the molecular etiology of non-CHAPLE PILs and potentially discover novel gene defects. The integrated application of genomics, transcriptome, proteomics and microbiome aims to identify key mediators and pathways operative in the pathogenesis of intestinal lymphangiectasias. Serial evaluation and longitudinal follow up of patient samples under eculizumab (anti-complement C5 antibody) therapy investigates dynamic alterations in the pathological profiles in CHAPLE syndrome. It is anticipiated that these studies will improve the diagnosis and treatment of CHAPLE and related conditions.
Goals of the current study include:
- To discover novel gene defects underlying PILs not related to CD55 deficiency.
- To identify signatures of CHAPLE disease and non-CHAPLE PILs that may reveal key mediators of disease and additional novel therapeutic targets.
- To explore the efficacy of eculizumab in a larger group of CHAPLE patients from unrelated families, with variable degree of disease severity.
- To analyze patient samples collected before and during eculizumab therapy with the following objectives:
- To understand relations between eculizumab concentration, complement function (CH50, AH50) and complement protein levels (C3, C5, CFB, C3a, C5a, sC5b-9, Bb, Ba)
- To explore biomarkers of inflammation and thrombosis, complications of the disease that can occur in certain affected individuals.
- Conditions
- CD55 - Cluster of Differentiation Antigen 55 Deficiency, Primary Intestinal Lymphangiectasis, Protein-Losing Enteropathies, Complement Regulatory Factor Defect
- Being tested
- Eculizumab Injection
- Keywords
- Complement hyperactivation, CD55 deficiency, Complement C5, Eculizumab, Multi-OMICs Analyses, Protein losing enteropathy
- Medical subject headings
- Waldmann disease, Protein-Losing Enteropathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Eculizumab InjectionDrug
Also called Soliris
Patients receive eculizumab as deemed necessary by the primary physician
| Study group | Role | What they receive |
|---|---|---|
| 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. | |
| Non-CHAPLE PILs | 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. Receives: Drug: Eculizumab Injection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Reversal of protein-losing enteropathy
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.
Measured: 3-6 months
Reversal of patient-specific major symptoms
The major symptoms are variable in CHAPLE patients. The symptoms present in a particular patient should be corrected under therapy.
Measured: 12-18 months
Secondary outcomes (3)
Reversal of other systemic components of the disease.
E.g., thrombosis, enterocolitis, micronutrient deficiency, etc.
Measured: 12-18 months
Correction of previous biochemical and radiological abnormalities
E.g., micronutrient deficiency, thrombocytosis; bowell wall thickening, contrast enhancement, recanalization of a thrombotic vessel segment, etc.
Measured: 6-18 months
Cessation of previous medications
Continueed need for previous medications to treat various manifestations of CHAPLE syndrome will be monitored
Measured: 3-18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 May 2019
- Study start15 Jun 2018
- Primary completion15 Sep 2019 (estimated)
- Study completion15 Jun 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for CD55 - Cluster of Differentiation Antigen 55 DeficiencyStudies of the same condition, open and under way.
- More trials run by Marmara UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
- Target duration
- 24 Months
Sponsor and investigators
- Lead sponsor
- Marmara University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ahmet Ozen, Marmara University
- Investigators
- Michael J Lenardo, M.D., Study director, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03950804
- Sponsor's protocol ID
- 09.2018.242
- Other IDs
- ZIAAI000717-22
- Acronym
- CHAPLEOMIC
- Status last verified
- Aug 2019
- First submitted
- 12 May 2019
- Last updated
- 14 Aug 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Ozen A. CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease. Immunol Rev. 2019 Jan;287(1):20-32. doi: 10.1111/imr.12715.
PubMed 30565236Ozen A, Comrie WA, Lenardo MJ. CD55 Deficiency and Protein-Losing Enteropathy. N Engl J Med. 2017 Oct 12;377(15):1499-1500. doi: 10.1056/NEJMc1710011. No abstract available.
PubMed 29020581Ozen A, Comrie WA, Ardy RC, Dominguez Conde C, Dalgic B, Beser OF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ. CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28.
PubMed 28657829Kurolap A, Eshach Adiv O, Hershkovitz T, Tabib A, Karbian N, Paperna T, Mory A, Vachyan A, Slijper N, Steinberg R, Zohar Y, Mevorach D, Baris Feldman H. Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency. J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):325-333. doi: 10.1097/MPG.0000000000002198.
PubMed 30418410Kurolap A, Eshach-Adiv O, Hershkovitz T, Paperna T, Mory A, Oz-Levi D, Zohar Y, Mandel H, Chezar J, Azoulay D, Peleg S, Half EE, Yahalom V, Finkel L, Weissbrod O, Geiger D, Tabib A, Shaoul R, Magen D, Bonstein L, Mevorach D, Baris HN. Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy. N Engl J Med. 2017 Jul 6;377(1):87-89. doi: 10.1056/NEJMc1707173. Epub 2017 Jun 28. No abstract available.
PubMed 28657861
Study at a glance
From the registry record, last updated by the sponsor on 14 Aug 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Transcriptome and Metabolic Analyses of CHAPLE Disease Patients With or Without Eculizumab Treatment
- ClinicalTrials.gov ID
- NCT03950804
- Acronym / sponsor ID
- CHAPLEOMIC / 09.2018.242
- Conditions
- CD55 - Cluster of Differentiation Antigen 55 Deficiency, Primary Intestinal Lymphangiectasis, Protein-Losing Enteropathies, Complement Regulatory Factor Defect
- Keywords
- Complement hyperactivation, CD55 deficiency, Complement C5, Eculizumab, Multi-OMICs Analyses, Protein losing enteropathy
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Marmara UniversityUniversity, hospital or other
- Collaborators
- National Institute of Allergy and Infectious Diseases (NIAID)
- Study start
- 15 Jun 2018 (actual)
- Primary completion
- 15 Sep 2019 (estimated)
- Study completion
- 15 Jun 2020 (estimated)
- First posted
- 15 May 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
CHAPLE syndrome is a newly discovered genetic disorder characterized by excessive loss of proteins in the gastrointestinal tract, referred to as protein-losing enteropathy. The disease typically presents in early childhood with facial and extremity edema in relation to hypoalbuminemia, chronic diarrhea, failure to thrive and, in extreme cases, severe thromboembolic disease that can lead to premature death. Patients afflicted with this newly discovered disease have been treated with conventional medications, including inflammatory bowel disease drugs to reduce gastrointestinal inflammation, albumin and immunoglobulin replacement therapy, dietary modification, supportive measures to supplement micronutrients and vitamins, surgery to remove affected intestinal segments, among others. These interventions have often provided only partial relief, with no capacity to alter the natural course of the disease.
CHAPLE syndrome is caused by loss of a complement regulatory protein due to deleterious mutations in the CD55 gene, which results in excessive activation of the complement system. Based on the scientific observations that complement hyperactivation is the primary event that underlies disease manifestations, it was hypothesized that complement inhibition therapy can potentially reverse the pathological processes. Through a compessionate program 3 CHAPLE patients from a single family have been treated with a complement C5 blocker antibody called eculizumab, with favorable response (Kurolap et al. PMID: 28657861). While these observations confirm the primary role of complement hyper activation in PIL associated with CHAPLE syndrome, the pathogenesis of PILs not related to CD55 deficiency (non-CHAPLE PIL) remains unknown. It is hypothesized that that there may be pathogenetic intersections between CHAPLE and non-CHAPLE PILs.
Following a clinical observation that eculizumab provides a rapid clinical relief in unrelated CHAPLE patients based in Turkey similar to Kurolap et al.'s report, researchers of this study decided to evaluate the clinical outcome of eculizumab among subsequent CHAPLE patients who are placed on this therapy. In parallel, molecular investigations on biological samples under eculizumab therapy are being carried to dissect the key alterations under complement C5 blockade.
The current study is based on use of high-throughput methods to investigate PILs, including exome sequencing (for the non-CHAPLE PILs), transcriptomics, proteome and microbiome investigations. The aims of the study include; 1. Discovery of signatures and biomarkers in CHAPLE, 2. Identification of the molecular etiology of non-CHAPLE PILs and potentially discover novel gene defects. The integrated application of genomics, transcriptome, proteomics and microbiome aims to identify key mediators and pathways operative in the pathogenesis of intestinal lymphangiectasias. Serial evaluation and longitudinal follow up of patient samples under eculizumab (anti-complement C5 antibody) therapy investigates dynamic alterations in the pathological profiles in CHAPLE syndrome. It is anticipiated that these studies will improve the diagnosis and treatment of CHAPLE and related conditions.
Goals of the current study include:
- To discover novel gene defects underlying PILs not related to CD55 deficiency.
- To identify signatures of CHAPLE disease and non-CHAPLE PILs that may reveal key mediators of disease and additional novel therapeutic targets.
- To explore the efficacy of eculizumab in a larger group of CHAPLE patients from unrelated families, with variable degree of disease severity.
- To analyze patient samples collected before and during eculizumab therapy with the following objectives:
- To understand relations between eculizumab concentration, complement function (CH50, AH50) and complement protein levels (C3, C5, CFB, C3a, C5a, sC5b-9, Bb, Ba)
- To explore biomarkers of inflammation and thrombosis, complications of the disease that can occur in certain affected individuals.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 24 Months
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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. |
| Non-CHAPLE PILs | – | –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 | – | Drug: Eculizumab InjectionAmong 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. |
Who may qualify
- Ages
- Up to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- All PIL patients, including CHAPLE and non-CHAPLE PILs are to be included in the study.Among the CHAPLE patients who receive eculizumab therapy a prospective follow-up is made. Age matched healthy subjects form the control group.
Key inclusion criteria (2 listed)
- Patients diagnosed with PIL form the study groups and deem eligible for the study unless there is a risk associated with blood draw.
- The patients with CHAPLE syndrome who receive eculizumab therapy and consent to participate in this study are followed prospectively and clinical data collected. Biological sample collection and molecular investigations are to be made only if the patient is willing to provide biological samples, including peripheral blood and stool.
Key exclusion criteria (3 listed)
- Presence of a concomitant disease that leads to hypoproteinemia at the time of starting eculizumab such as a urinary protein loss or a hepatic disease that affects production of proteins by liver.
- A concomitant disease that leads to secondary intestinal lymphangiectasia such as a fontan procedure for congenital heart disease.
- Unstable clinical condition not allowing blood draw, such as severe anemia.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Eculizumab InjectionAlso: SolirisPatients receive eculizumab as deemed necessary by the primary physician | Drug | CHAPLE patients on eculizumab |
Primary outcome
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.
3 secondary outcomes
Reversal of other systemic components of the disease.
Time frame: 12-18 months
Correction of previous biochemical and radiological abnormalities
Time frame: 6-18 months
Cessation of previous medications
Time frame: 3-18 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Aug 2019.
- Background: PubMed 30565236Ozen A. CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease. Immunol Rev. 2019 Jan;287(1):20-32. doi: 10.1111/imr.12715.
- Background: PubMed 29020581Ozen A, Comrie WA, Lenardo MJ. CD55 Deficiency and Protein-Losing Enteropathy. N Engl J Med. 2017 Oct 12;377(15):1499-1500. doi: 10.1056/NEJMc1710011. No abstract available.
- Background: PubMed 28657829Ozen A, Comrie WA, Ardy RC, Dominguez Conde C, Dalgic B, Beser OF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ. CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28.
- Background: PubMed 30418410Kurolap A, Eshach Adiv O, Hershkovitz T, Tabib A, Karbian N, Paperna T, Mory A, Vachyan A, Slijper N, Steinberg R, Zohar Y, Mevorach D, Baris Feldman H. Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency. J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):325-333. doi: 10.1097/MPG.0000000000002198.
- Background: PubMed 28657861Kurolap A, Eshach-Adiv O, Hershkovitz T, Paperna T, Mory A, Oz-Levi D, Zohar Y, Mandel H, Chezar J, Azoulay D, Peleg S, Half EE, Yahalom V, Finkel L, Weissbrod O, Geiger D, Tabib A, Shaoul R, Magen D, Bonstein L, Mevorach D, Baris HN. Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy. N Engl J Med. 2017 Jul 6;377(1):87-89. doi: 10.1056/NEJMc1707173. Epub 2017 Jun 28. No abstract available.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Michael J Lenardo, M.D. study director
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of CD55 - Cluster of Differentiation Antigen 55 Deficiency and Primary Intestinal Lymphangiectasis, run by Marmara University at 1 site in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 14 Aug 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ahmet O Özen, M.D. (905357400857, ahmet.ozen@marmara.edu.tr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Reversal of protein-losing enteropathy (time frame: 3-6 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03950804, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Aug 2019.