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Common variable immunodeficiency (CVID)
Common variable immunodeficiency (CVID) is a group of disorders characterized by low levels of a type of protein known as immunoglobulins (Ig). Because of low level of Ig, the immune system cannot make antibodies that fight bacteria, viruses or other toxins in the body. This leads to frequent infections, particularly in the sinuses, lungs, and digestive tract.
Prevalence
1-9 / 100 000
N/A
US Estimated
N/A
Europe Estimated
Age of Onset
All ages
ICD-10
D83.0
D83.1
D83.2
D83.8
D83.9
Inheritance Pattern
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
1
A group of disorders characterized by low levels of immunoglobulins (Ig)
FACT
2
Characterized by low levels of protective antibodies and an increased risk of infections
FACT
3
Patients with CVID may experience frequent bacterial and viral infections of the upper airway, sinuses, and lungs
FACT
4
Symptoms most commonly begin in early adulthood but can occur at any age
FACT
5
Acute lung infections can cause pneumonia, and long-term lung infections may cause bronchiectasis
Interest over time
Google searches
Common signs & symptoms
Recurrent sinopulmonary infections
Chronic cough or bronchiectasis
Chronic diarrhea or malabsorption
Autoimmune cytopenias (e.g., ITP, AIHA)
Lymphadenopathy or splenomegaly
Fatigue and reduced quality of life
Current treatments
Treatment focuses on infection prevention, immune support, and management of complications.
Core Therapy
- Immunoglobulin replacement therapy (IVIG or SCIG)
Supportive and Adjunctive Care
- Antibiotics for acute and prophylactic use
- Management of autoimmune manifestations
- Pulmonary monitoring and airway clearance therapies
Advanced/Selected Cases
- Immunosuppressive or biologic therapies for immune dysregulation
- Hematopoietic stem cell transplantation (rare, selected cases)
References:
Dellon ES, Liacouras CA, Molina-Infante J, et al. Updated international consensus diagnostic criteria for eosinophilic esophagitis: proceedings of the AGREE conference. <i>Gastroenterology.</i> 2018;155(4):1022–1033.e10. doi:10.1053/j.gastro.2018.07.009 Furuta GT, Katzka DA. Eosinophilic esophagitis. <i>N Engl J Med.</i> 2015;373(17):1640–1648. doi:10.1056/NEJMra1502863Lucendo AJ, Molina-Infante J, Arias Á, et al. Guidelines on eosinophilic esophagitis: evidence-based statements and recommendations. <i>United European Gastroenterol J.</i> 2017;5(3):335–358. doi:10.1177/2050640616689525Rothenberg ME. Molecular, genetic, and cellular bases for eosinophilic esophagitis. <i>J Allergy Clin Immunol.</i> 2015;135(5):1103–1114. doi:10.1016/j.jaci.2015.02.021
Clinical Trials
| Title | Description | Phases | Status | Interventions | More information |
|---|---|---|---|---|---|
| Leniolisib for Immune Dysregulation in CVID | In this study, common variable immunodeficiency (CVID) patients will all receive the study drug, leniolisib, for a treatment period of 6 months. Participants will start on a lower dose of leniolisib, followed by a mid and then a higher dose level. The primary goal is to assess the safety and tolerability of leniolisib, and secondary goal is to assess the potential for leniolisib to provide benefits for patients. | PHASE2 | RECRUITING | DRUG: Leniolisib | More info |
| Usage of Spirometry in Managing IgG Therapy in CVID with Airway Disease | Although there is evidence in the literature that gammaglobulin replacement therapy can lead to a reduction in the prevalence of pulmonary infection and improved lung function, there is no published study to guide immunologists regarding the use of spirometry in titrating IG therapy to assist in the management of immunodeficiency patients with regards to gammaglobulin replacement therapy. The investigators propose to study the use of spirometry to identify patients that could potentially benefit from an increase in IGRT. The investigators will identify 22 common variable immune deficiency (CVID) study subjects on stable IGRT replacement therapy equivalent to 0.40 to 0.60 gm/kg per 4 weeks who have evidence of mild to moderate obstruction as assessed by an FEF25-75% between 50% and 80% of predicted. Patients who are on Hizentra will be preferentially recruited. Of these 22, 11 will be identified at random and treated for 6 months at their current dose (control population). The remaining 11 study subjects (treatment group) will have their level of IGRT increased by the equivalent of 0.05 gm/kg in dose per 4 weeks, adjusted for bioavailability as per manufacturer's instructions. On average, rounded up to the nearest gram, this will typically increase their dose of Hizentra by 2 gm per week. | PHASE4 | RECRUITING | DRUG: Hizentra | More info |
| Respiratory Microbiota and Immune Response in CVID | Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency. Respiratory ailments are the most frequent complications of CVID, with chronic pulmonary disease developing in 30-60% and even more experiencing frequent acute respiratory infections. This project aims to establish cutting-edge approaches to study pulmonary biology in CVID and apply novel bioinformatics strategies to study complex interactions among microbes and host cells by direct sampling of the respiratory tract. The central hypothesis for this research is that antibody (Ab) deficiency in CVID alters respiratory microbiota and host interactions to drive pulmonary disease. | RECRUITING | More info | ||
| Prediction of Portal Hypertension in Patients With CVID (CVID-pHT) | Patients with CVID will be offered to participate in this observational trial during the routine annual visit in the outpatient clinic at the Center of chronic Immunodeficiency (CCI) of the University Medical Center Freiburg, Germany. Clinical and laboratory data at the time of presentation will be assessed. Additionally, parameters of abdominal ultrasound, duplex sonography of the liver and spleen, and liver and spleen stiffness at the time of presentation will be evaluated. If applicable, clinical and/or interventional parameters indicating clinically significant portal hypertension (i.e. presence of varices or portal-hypertensive gastropathy in esophago-gastroduodenoscopy, presence of ascites) within 12 months prior and after the index visit will be assessed. During the visit, serum/plasma samples and peripheral blood mononuclear cells (PBMC) are collected and stored in an associated biobank. | RECRUITING | DIAGNOSTIC_TEST: Ultrasound including color doppler ultrasound | More info | |
| Peripheral Helper T-cells in Common Variable ImmunoDeficiency | The aim is to determine whether whether Tph could support non-infectious complications through providing help to pathological B-cells. | NA | NOT_YET_RECRUITING | OTHER: blood sample | More info |
| Immune Regulation in Patients With Common Variable Immunodeficiency and Related Inborn Errors of Immunity (IEI) | This study aims to understand the causes and progression of Common Variable Immunodeficiency (CVID) and related inborn errors of immunity (IEI). These are conditions where the immune system does not function properly, leading to frequent infections and other complications such as gastrointestinal inflammation, lung and liver disease, autoimmune conditions, and an increased risk of certain cancers. By studying patients with CVI and related immune disorders, we hope to develop better ways to diagnose, treat, and prevent complications associated with these conditions. Patients diagnosed with CVID or related immune disorders must be referred by their physician and medical records reviewed by the study team to confirm eligibility to participate in this study. Once enrolled, participants will undergo various tests, including blood draws, physical exams, and imaging studies like CT scans to track changes over time. We may collect samples such as blood, urine, stool, or saliva for research purposes. If a surgical procedure or biopsy is performed because it is medically necessary, we may collect an additional sample for research testing. Family members of patients may be asked to provide blood samples for comparison. Some tests may be done remotely if participants or family members cannot travel to the study site. Who Can Participate * Patients diagnosed with CVI or related IEI, such as X-linked agammaglobulinemia, Blau Syndrome or Yao Syndrome. * Participants must be at least 2 years old. * Family members of patients may include parents, siblings, grandparents, children, aunts, uncles, and cousins. * Pregnant women already enrolled in the study will continue to participate, but new pregnant participants will not be enrolled. Potential Risks and Benefits * Risks: Blood draws may cause discomfort, bruising, or infection. Apheresis may cause dizziness, nausea, or muscle cramps; this procedure is to collect specific cells in the blood and is infrequently done on this protocol. Extra biopsies during clinically indicated procedures may increase the risk of complications; they will only be collected after the medically necessary biopsies are taken and if it is safe to collect any extra biopsies. * Benefits: Participants may not receive direct medical benefits, but the study will contribute to a better understanding of CVID and related conditions, potentially leading to improved treatments. | RECRUITING | More info | ||
| Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD) | This is a research protocol that will examine Hematopoietic Stem Cell Transplantation (HSCT) using a reduced conditioning regimen (RIC) with total body Irradiation (TBI) in those diagnosed with Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD). | PHASE2 | NOT_YET_RECRUITING | BIOLOGICAL: Hematopoietic stem cell transplant (HSCT) | More info |
| Abatacept for the Treatment of Common Variable Immunodeficiency With Interstitial Lung Disease | There is no standard of care therapy for patients with granulomatous-lymphocytic interstitial lung disease (GLILD) seen in common variable immunodeficiency (CVID). Abatacept has recently looked promising for the treatment of patients with complex CVID. This study is a multi-site, phase II, randomized, blinded/placebo-controlled clinical trial in pediatric and adult subjects to determine the efficacy of abatacept compared to placebo for treatment of subjects with GLILD in the context of CVID. Funding Source - FDA OOPD | PHASE2 | RECRUITING | DRUG: Abatacept|OTHER: Placebo | More info |