pGLILD: GLILD Diagnosed in Children and Young Adults With Common Variable Immunodeficiency

Sponsor

Central Hospital, Nancy, France (Other)

Overall Status

Unknown status

CT.gov ID

NCT03648567

Collaborator

(none)

Enrollment

Locations

6.5

Anticipated Duration (Months)

Patients Per Site

0.6

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

8 to 22% of patients with common variable immunodeficiency (CVID) will develop Granulomatous Lymphocytic Interstitial Lung Disease (GLILD), which has emerged as a major cause of mortality. Little is known about GLILD in children and young adults. The aim of this study was to describe the clinical, functional, radiological and pathological features of children and young adults diagnosed with GLILD.

Condition or Disease	Intervention/Treatment	Phase
GLILD in a Population of Children and Young Adults

Detailed Description

Variable common immunodeficiency (VCID) encompasses a heterogeneous group of primitive immunodeficiencies, with variable clinical and immunological settings, but globally characterized by hypogammaglobulinemia with significant reduction of Immunoglobulin G levels, often associated with a decrease in Immunoglobulin A and/or Immunoglobulin M levels, coupled with inability to produce antibodies in response to infection and/or immunization. VCID is the most common primary immunodeficiency, with an estimated prevalence between 1/10,000 and 1/50,000. With the introduction of high-dose, intravenous or subcutaneous immunoglobulins, number of infections, along with morbidity and induced mortality, has declined sharply in recent years. Conversely, non-infectious complications, such as autoimmune manifestations, inflammatory bowel diseases, enteropathies, hepatitis, lung disease and lymphoproliferation (up to lymphoma), increased considerably, reaching 70% of patients.

Granulomatous Lymphocytic Interstitial Lung Disease is a non-infectious complication that can occur during the evolution of VCID and which is usually the pulmonary manifestation of a systemic polyclonal lymphoproliferative disease. GLILD contained both granulomatous and lymphoproliferative histopathologic patterns such as lymphocytic interstitial pneumonia , follicular bronchiolitis, and lymphoid hyperplasia. In recent series, approximately 8 to 22% of patients develop GLILD in VCID, and this complication is associated with increased mortality.

Although there are now more studies conducted in the adult population, those in the pediatric population are only currently case report. To the best of our knowledge, very little data is available on this specific lung disease in the pediatric and young adults population.

Study Design

Study Type:

Observational

Anticipated Enrollment :

24 participants

Observational Model:

Case-Only

Time Perspective:

Retrospective

Official Title:

Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD) Diagnosed in Children and Young Adults With Common Variable Immunodeficiency

Actual Study Start Date :

Mar 1, 2018

Anticipated Primary Completion Date :

Sep 1, 2018

Anticipated Study Completion Date :

Sep 15, 2018

Outcome Measures

Primary Outcome Measures

Lung biopsy [from 1998 to july 2018]
Number of patients suspected of GLILD with lung biopsy whose characteristics corresponds to those defined by the British Lung Foundation

Secondary Outcome Measures

Clinical symptomatology [from 1998 to july 2018]
Number of patients suspected of GLILD with significant clinical symptomatology
Immunology [from 1998 to july 2018]
Number of patients suspected of GLILD with a particular immunological profile
Pulmonary function tests [from 1998 to july 2018]
Number of patients suspected of GLILD with restrictive syndrome and/or carbon monoxide diffusion capacity alteration (Pulmonary Function Tests)
CT chest in GLILD [from 1998 to july 2018]
Number of patients suspected of GLILD with radiological characteristics corresponding to those defined by the British Lung foundation
Broncho-alveolar lavage [from 1998 to july 2018]
Number of patients suspected of GLILD with significant alteration of Broncho-alveolar Lavage
GLILD Management [from 1998 to july 2018]
Number of patients suspected of GLILD who received a treatment for this indication

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A to 25 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

patient aged to 0 to 25 years old (at the diagnosis of GLILD)
diagnosed with a primary immunodeficiency syndrome "Common Variable Immunodeficiency" like, according to the 1999 American and European Societies for Immunodeficiency criteria
Suspected with GLILD (Granulomatous Lymphocytic Interstitial Lung Disease

Exclusion Criteria:

pulmonary diseases caused by other causes such as infectious or hypersensitivity pneumonitis

Contacts and Locations

Locations

	Site	City	Country	Postal Code
1	Chu Besancon	Besançon	France	25030
2	CHRU Bordeaux	Bordeaux	France	33000
3	Chru Dijon Bourgogne	Dijon	France	21000
4	CHU Montpellier	Montpellier	France	34295
5	CHRU Nancy	Nancy	France	54500
6	Hôpital Necker Enfants Malades	Paris	France	75015