NCT01386437

Natural History of Individuals With Immune System Problems That Lead to Fungal Infections

Recruiting now Last updated 14 April 2026

What this trial tests

trial in Chronic Mucocutaneous Candidiasis in 1,200 participants. Currently enrolling.

Timeline

5 November 2012

Quick facts

Lead sponsor	National Institute of Allergy and Infectious Diseases (NIAID)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	1,200
Start date	5 November 2012
Sites	1 location across United States

Conditions studied

• Chronic Mucocutaneous Candidiasis — all drugs for Chronic Mucocutaneous Candidiasis →
• Invasive Aspergillosis — all drugs for Invasive Aspergillosis →
• CARD9 — all drugs for CARD9 →
• APECED — all drugs for APECED →

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Who can join

Adults 1 Day to 99, any sex, with Chronic Mucocutaneous Candidiasis or Invasive Aspergillosis. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Background:

\- The immune system is made up of special cells, tissues, and organs that fight infections. Problems with this system may lead to frequent, severe, or unusual fungal infections. These infections are often difficult to treat. Researchers want to collect blood and tissue samples from people who have unusual, persistent or severe fungal infections or immune problems that increase the risk of these infections.

Objectives:

\- To collect medical information and samples for a long-term study of people with immune system problems that lead to fungal infections.

Eligibility:

* People with a history of fungal infections caused by immune system problems.
* Parents, children, and siblings of this group.
* Healthy volunteers not related to the first two groups.

Design:

* This long-term study may last for up to 25 years. Those in the study may need to provide new information about every 6 months. The procedures for each person may vary with the particular diagnosis and the extent of fungal infection. Healthy volunteers may have only one or two visits.
* At the first visit, those in the study will have a full medical history and physical exam. They will also provide blood.
* Research procedures may include the following:
* Saliva, urine or stool testing
* Mouthwash collection for DNA testing
* Collection of cheek cells, nail clippings, or vaginal fluid
* Tests of leftover tissue or body fluid from previous medical procedures
* Skin or oral mucous membrane biopsy
* Collection of white blood cells
* Followup visits will involve a physical exam and updated medical history. Blood, saliva, urine, or nail clipping samples may be taken for ongoing studies. Any additional tests or exams required by the study doctors may also be done.
* Participants may withdraw from the study pool at any time....

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Inhibition of Bruton tyrosine kinase in patients with severe COVID-19.
   Roschewski M, Lionakis MS, Sharman JP, Roswarski J, et al · · 2020 · cited 289× · PMID 32503877 · DOI 10.1126/sciimmunol.abd0110
2. An immune-based biomarker signature is associated with mortality in COVID-19 patients.
   Abers MS, Delmonte OM, Ricotta EE, Fintzi J, et al · · 2021 · cited 282× · PMID 33232303 · DOI 10.1172/jci.insight.144455
3. Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1.
   Bastard P, Orlova E, Sozaeva L, Lévy R, et al · · 2021 · cited 236× · PMID 33890986 · DOI 10.1084/jem.20210554
4. Aberrant type 1 immunity drives susceptibility to mucosal fungal infections.
   Break TJ, Oikonomou V, Dutzan N, Desai JV, et al · · 2021 · cited 132× · PMID 33446526 · DOI 10.1126/science.aay5731
5. C5a-licensed phagocytes drive sterilizing immunity during systemic fungal infection.
   Desai JV, Kumar D, Freiwald T, Chauss D, et al · · 2023 · cited 88× · PMID 37220746 · DOI 10.1016/j.cell.2023.04.031
6. The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.
   Oikonomou V, Smith G, Constantine GM, Schmitt MM, et al · · 2024 · cited 64× · PMID 38810185 · DOI 10.1056/nejmoa2312665
7. High-throughput identification of autoantibodies that target the human exoproteome.
   Wang EY, Dai Y, Rosen CE, Schmitt MM, et al · · 2022 · cited 45× · PMID 35360706 · DOI 10.1016/j.crmeth.2022.100172
8. Autoantibody discovery across monogenic, acquired, and COVID-19-associated autoimmunity with scalable PhIP-seq.
   Vazquez SE, Mann SA, Bodansky A, Kung AF, et al · · 2022 · cited 40× · PMID 36300623 · DOI 10.7554/elife.78550