Life-threatening Infection in Humans: from Epidemiological Analysis to Molecular Genetics

NCT ID: NCT06775496

Last Updated: 2025-01-15

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 360 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-10-01
• Study Completion Date: 2031-05-31

Brief Summary

This study, aims to identify and calculate the prevalence of cases potentially associated with congenital errors of immunity (ECI) among patients, hospitalized with infectious disease and carry out their clinical-laboratory characterization. Diagnoses of ECI are becoming increasingly common, by virtue of the continuing discoveries of new disease-causing genes and an increasing understanding of the clinical signs and symptoms of these entities.

The most important challenge still remains to achieve early diagnosis, which is essential for appropriate and individualized treatment that also takes into account the prognostic and genetic counseling aspect related to these disorders, which are associated with high rates of morbidity and mortality.

Patients with nonimmunological diseases, secondary immunodeficiencies, nonpharmacological iatrogenic factors, and immunosuppressive drug therapies will be involved in the study.

Detailed Description

Severe, up to potentially fatal infections , represent a frequent cause of hospitalization in various clinical settings (pediatric and adult). Any infection of bacterial, viral, mycobacterial, or fungal etiology with a severe course, whether systemic (e.g., sepsis or septic shock, disseminated intravascular coagulation) or focal (e.g., pneumonia, meningitis, encephalitis skin infection) that causes organ damage and/or requires organ-specific or intensive supportive treatment (mechanical ventilation, inotropes, renal replacement treatment) should be considered life-threatening.

Conditions

Life-threatening Infection

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: OTHER

Eligibility Criteria

Inclusion Criteria

• Obtained informed consent;
• Otherwise healthy patient on admission

Infectious episode:

• life-threatening caused by known or unknown etiologic agent including viruses, bacteria, mycobacteria or mycetes (in case of lack of microbiologic isolate if clinical, laboratory, histopathologic and radiologic data, justify an infectious origin)
• or caused by vaccine strains of attenuated vaccines such as Measles, Mumps, Rubella, Yellow Fever.
• or caused by viruses, bacteria, mycobacteria or mycetes with features suggestive of congenital deficiency of immunity, the clinical pictures below refer to known conditions potentially associated with congenital errors of innate immunity

Viral susceptibility:

• ARDS caused by influenza virus type A, Sars-Cov2
• Life-threatening enterovirus rhomboencephalitis
• Life-threatening infection by VZV, CMV, EBV, Rhinovirus, Respiratory Syncytial Virus
• HSV encephalitis
• Fulminant hepatitis from HAV
• Kaposi's sarcoma from HHV8
• Beta-HPV infections such as: epidermodysplasia verruciformis, mucocutaneous carcinoma,recurrent/diffuse skin warts,, papillomatosis.

Susceptibility to pyogenic bacteria:

• At least one life-threatening infection or two episodes of invasive infectionsin otherwise healthy patients, either systemic (bacteremia) or focal (pneumonia, meningitis, arthritis, osteomyelitis, deep brain/peritoneal/hepatosplenic/muscle abscesses)
• At least two episodes of disseminated or severe staphylococcal muco-cutaneous infections in otherwise healthy patients: decalvant folliculitis, pustules, furunculosis, blepharitis, lymphadenitis, abscesses

Susceptibility to Tropherymawhipplei:

• Whipple's disease

Susceptibility to Mycobacteria:

• Life-threatening , recurrent, or persistent infections with tuberculous or nontuberculous mycobacteria in otherwise healthy patients
• Post-vaccinal BCG-osis from attenuated M. Bovis strain

Susceptibility to mycetes:

• Chronic muco-cutaneous candidiasis Invasive fungal infections of sinuses, lungs, CNS, bones, joints, liver, spleen, and mucocutaneous membranes by Coccidioides, Paracoccidiodes, Cryptococcus, Histoplasma, Pneumocystis, Aspergillus, Talaromyces, Mucormycetes, or Blastomyces
• Invasive candidiasis of brain, eyes, heart, bone, and blood in the absence of central catheters
• Blood dissemination of fungal pathogens (except for candidiasis from central access)
• Persistent positive fungal culture after adequate therapy in terms of drug susceptibility, dosage and duration
• Deep infection with dermatophytes (Microsporum, Epidermophyton, Tricophyton) at dermal and lymph node level
• Infection with rare yeasts (Geotrichum, Kodamaea, Malassezia/Rhodotorula, Saccharomyces, Trichosporon) or rare molds (AureobasidiumChrysosporium, Corynesprora, Exophiala, Geosmithia, Ochroconis, Paecilomyces, Phellinus, Phialophora, Rhizopus, Scopulariopsis)

Other:

-All infectious diseases not included in the list whose natural history differs from that expected for the identified pathogen with regard to severity, recurrence, and persistence of the disease, if the condition is not otherwise explainable by the patient's acquired risk factors.

Exclusion Criteria

• Patients with nonimmunological diseases, secondary immunodeficiencies, nonpharmacological iatrogenic factors, immunosuppressive drug therapies

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

IRCCS Azienda Ospedaliero-Universitaria di Bologna

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Daniele Zama, MD

Role: PRINCIPAL_INVESTIGATOR

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Locations

IRCCS Istituto delle Scienze Neurologiche

Bologna, Bologna, Italy

Site Status: RECRUITING

IRCCS Azienda Ospedaliero Universitaria di Bologna UO Pediatria

Bologna, Bologna, Italy

Site Status: RECRUITING

IRCCS Azienda-Ospedaliero Universitaria di Bologna UO Anestesiologia e Rianimazione generale e pediatrica

Bologna, Bologna, Italy

Site Status: RECRUITING

IRCCS Azienda-Ospedaliero Universitaria di Bologna UO Malattie Infettive

Bologna, Bologna, Italy

Site Status: RECRUITING

IRCCS Azienda-Ospedaliero Universitaria di Bologna UO Neonatologia e terapia intensiva neonatale

Bologna, Bologna, Italy

Site Status: RECRUITING

IRCCS Azienda-Ospedaliero Universitaria di Bologna UO Pediatria d'Urgenza, Pronto Soccorso e Osservazione Breve e Intensiva

Bologna, Bologna, Italy

Site Status: RECRUITING

Countries

Italy

Central Contacts

Daniele Zama, MD

Role: CONTACT

daniele.zama2@unibo.it

0512144688 ext. +39 0512144688

Facility Contacts

Duccio Maria Cordelli, MD

Role: primary

ducciomaria.cordelli@unibo.it

0512144657 ext. +39

Duccio Maria Cordelli, MD

Role: backup

Francesca Conti, MD

Role: primary

francesca.conti27@unibo.it

0512144622 ext. +39

Francesca Conti, MD

Role: backup

Fabio Caramelli

Role: primary

fabio.caramelli@unibo.it

0512143322 ext. +39

Fabio Caramelli, MD

Role: backup

Caterina Campoli

Role: primary

caterina.campoli@aosp.bo.it

0516361259 ext. +39

Caterina Campoli, MD

Role: backup

Maria Grazia Capretti, MD

Role: primary

mariagrazia.caprett2@unibo.it

051342754 ext. +39

Maria Grazia Capretti, MD

Role: backup

Daniele Zama, DM

Role: primary

daniele.zama@aosp.bo.it

0512143031 ext. +39

Daniele Zama, MD

Role: backup

Other Identifiers

QUI_IMMUNO

Identifier Type: -

Identifier Source: org_study_id