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Patogenese og genetikk av disseminert eller refraktær coccidioidomycosis

6. november 2026 oppdatert av: National Institute of Allergy and Infectious Diseases (NIAID)

Patogenesen og genetikken til disseminert eller refraktær coccidioidomycosis

Background:

- Coccidioidomycosis is caused by a fungus that grows in the southwest United States and parts of Mexico and South America. This disease is caused by breathing dust containing the fungus. It can lead to serious lung and breathing problems. Rarely, the fungus can infect other body parts. This is called disseminated coccidioidomycosis (DCM). If the fungus stays in the lungs for more than 6 months, it is called refractory coccidioidomycosis (RCM). People with DCM or RCM may have difficulty fighting off infection because of immune system problems. Researchers want to study the immune systems of people with DCM or RCM, to learn more about the disease and the best ways to treat it. They also want to learn more about the types of people that get DCM or RCM and about the fungus that causes it.

Objectives:

- To learn more about DCM and RCM, the fungus that causes these diseases, and the people who get them.

Eligibility:

- People over age 2 with DCM or RCM.

Design:

Participants will be screened with a review of their medical records.
At the initial visit, participants will have:
Medical history and physical exam
Blood and urine tests. Some blood may be used for genetic testing. The samples will not include participants names. Participants will be notified only if the tests show something urgent about their DCM/RCM. Researchers think this sort of problem will be rare.
Questionnaire about their DCM/RCM
Sputum (mucus) collection. They will spit into a cup.
Participants will have 1 follow-up visit per year. They will have blood tests. They may have other procedures to treat their DCM/RCM.

Studieoversikt

Status

Rekruttering

Forhold

Coccidioidomycosis

Detaljert beskrivelse

Coccidioidomycosis (CM) is a fungal disease endemic to the southwestern United States, Northern Mexico, and parts of South America. About 150,000 CM infections are estimated to occur in the United States each year, of which 60% are thought to be asymptomatic. Symptomatic patients typically present with a respiratory syndrome likened to community-acquired pneumonia, while less than 1% of infected individuals are thought to develop refractory disease with or without dissemination. Disseminated infection rarely resolves spontaneously and, although any organ can be affected, tends to involve the skin, lymph nodes, central nervous system and/or the skeletal system. While the risk of disseminated infection is increased in immune suppressed patients, many individuals with no significant prior history have developed debilitating, widespread infection. Causes of refractory and/or disseminated disease in previously healthy individuals have only recently begun to be elucidated, including mutations in the IFNy/IL-12 pathway.

We seek to better characterize the genetic predisposition and treatment of refractory

and/or disseminated coccidioidomycosis. Specifically, we will examine multiple immune factors, characterize the demographics of patients afflicted with this disease, and examine the phylogeny of the infecting organisms. This information will reveal endogenous pathways that might be targets for therapeutic intervention.

Studietype

Observasjonsmessig

Registrering (Antatt)

400

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

Navn: Steven M Holland, M.D.
Telefonnummer: (301) 402-7684
E-post: sholland@mail.nih.gov

Studer Kontakt Backup

Navn: Dawn E Shaw, R.N.
Telefonnummer: (301) 401-4740
E-post: dawn.shaw2@nih.gov

Studiesteder

Forente stater
- Maryland
  - Bethesda, Maryland, Forente stater, 20892
    - Rekruttering
    - National Institutes of Health Clinical Center
    - Ta kontakt med:
      
      For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
      
      Telefonnummer: TTY dial 711 800-411-1222
      
      E-post: ccopr@nih.gov

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

2 år til 100 år (Barn, Voksen, Eldre voksen)

Tar imot friske frivillige

Nei

Kjønn som er kvalifisert for studier

Alle

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

Patients with confirmed refractory and/or disseminated coccidioidomycosis.

Beskrivelse

INCLUSION CRITERIA:

To be eligible for this study, potential participants must meet the following criteria:

Age >= 2 years old.

a. Enrollment of pediatric patients who are acutely ill or likely to become acutely ill will be deferred until a time when they are considered medically stable by the PI.
Have a positive Coccidioides antigen load or culture proven (a) refractory pulmonary coccidioidomycosis or (b) disseminated coccidioidomycosis.
1. Refractory pulmonary coccidioidomycosis must have occurred for at least 6 months and includes progressive pulmonary involvement without significant pulmonary cavitation.
2. Disseminated CM is coccidioidomycosis infection in one or more regions outside of the chest.
Agree to undergo genetic testing.
Allow their samples to be stored for future research.

EXCLUSION CRITERIA:

HIV infection
Currently taking more than 20 mg/day of prednisone or undergoing active immunosuppressive therapy in the opinion of the investigator
Any medical, psychiatric, social condition, occupational reason or other responsibility that, in the judgment of the investigator, is a contraindication to protocol participation or impairs a volunteer s ability to give informed consent.

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

Observasjonsmodeller: COHORT
Tidsperspektiver: CROSS_SECTIONAL

Antall grupper / kohorter

Kohorter og intervensjoner

Gruppe / Kohort
Patients Patients with confirmed refractory and/or disseminated coccidioidomycosis.

Hva måler studien?

Primære resultatmål

Resultatmål	Tiltaksbeskrivelse	Tidsramme
Study patients with refractory and/or disseminated coccidioidomycosis in order to identify known and novel immune defects, characterize the demographics of patients afflicted with this disease, follow disease progression in patients, and charact... Tidsramme: Ongoing	Collecting information on coccidioidomycosis.	Ongoing

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Samarbeidspartnere

University of Arizona

Etterforskere

Hovedetterforsker: Steven M Holland, M.D., National Institute of Allergy and Infectious Diseases (NIAID)

Publikasjoner og nyttige lenker

Den som er ansvarlig for å legge inn informasjon om studien leverer frivillig disse publikasjonene. Disse kan handle om alt relatert til studiet.

Hjelpsomme linker

<p>NIH Clinical Center Detailed Web Page</p>

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Faktiske)

2. september 2014

Primær fullføring (Antatt)

31. juli 2029

Studiet fullført (Antatt)

31. juli 2029

Datoer for studieregistrering

Først innsendt

12. juli 2014

Først innsendt som oppfylte QC-kriteriene