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Protocol Details

The Natural History and Pathogenesis of Human Fungal Infections

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

11-I-0187

Sponsoring Institute

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 0
Max Age: 999

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Fungal Infection;
Immunopathogenesis;
Genetics

Recruitment Keyword(s)

Fungal Infections;
Mucocutaneous Fungal Infection;
Invasive Fungal Infection

Condition(s)

Fungal Infections;
APECED;
Chronic Mucocutaneous Candidiasis;
Fungal Immunopathogenesis

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Allergy and Infectious Diseases

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 10 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.

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Eligibility

INCLUSION CRITERIA:

Patients:

Patients with or without inherited or acquired abnormalities of immune function manifesting mucocutaneous and/or invasive fungal infections are eligible for screening and assessment under this protocol. Specifically, patients must meet all the following inclusion criteria in order to participate in this study:

Adults or children (regardless of age, gender or ethnicity/race) with a known or yet uncharacterized inherited immunodeficiency and a definitively diagnosed mucocutaneous or invasive fungal infection.

OR

Adults or children (regardless of age, gender or ethnicity/race) with acquired immunodeficiency and a severe, unusual, persistent or treatment-refractory chronic mucocutaneous fungal infection.

OR

Adults or children (regardless of age, gender or ethnicity/race) with acquired immunodeficiency and a possible, probable or proven invasive fungal infection (European Organization for Research and Treatment of Cancer / Mycoses Study Group criteria).

OR

Adults or children (regardless of age, gender or ethnicity/race) with a well-documented prior, unusual, severe, persistent, or treatment-refractory mucocutaneous or invasive fungal infection(s), who have clinically recovered from the fungal infection.

OR

Adults or children (regardless of age, gender or ethnicity/race) with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) who have not yet developed CMC.

Ongoing care by a referring/primary care physician (inside or outside NIH).

Willing to allow storage of blood and tissue samples for future analyses.

Willing to allow genetic testing from blood, body fluids or tissue specimens.

Willing to have HIV testing

For Clinical Center inpatients unable to give informed consent due to an illness or cognitive incapacity, a Durable Power of Attorney (DPA) must be available to provide informed consent.

Patient Relatives:

Individuals (regardless of age, gender or ethnicity/race) who are genetically related to the patient (e.g., mother, father, siblings, children) may be recruited to establish the genetic origin of immune defects that may be identified in the study patients at the discretion of the PI. Relatives must meet all the following inclusion criteria in order to participate in this study:

Willing to allow storage of blood and tissue samples for future analyses.

Willing to allow genetic testing from blood, body fluids or tissue specimens.

Willing to have HIV testing

Healthy Volunteers:

Healthy adults regardless of gender and ethnicity/race between the ages of 18 and 85 years old may be eligible to participate in this study. Healthy volunteers must meet all the following inclusion criteria in order to participate in this study:

Willing to allow storage of blood and tissue samples for future analyses.

Willing to allow genetic testing from blood, body fluids or tissue specimens.

Willing to have HIV testing

EXCLUSION CRITERIA:

Patients:

A patient will not be eligible if he/she has any of the following:

Any condition which, in the investigator s opinion, may interfere with the evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol.

Any condition which, in the investigator s opinion, places the patient at undue risk by participating in the study.

Unwillingness to undergo testing or procedures associated with this protocol.

Hemoglobin of < 7 gm/dL. If a patient is enrolled solely to obtain left-over pathology specimens, saliva, a buccal sample, skin swab, vaginal swab, or a stool sample, this exclusion criteria will not apply as there will be no blood withdrawal.

Patient Relatives:

A genetically related relative will not be eligible for this study if he/she has any condition which, in the investigator s opinion, may interfere with the evaluation of an immune system abnormality that is the subject of study under this protocol.

Healthy Volunteers:

A healthy volunteer will not be eligible if he/she has any of the following:

HIV infection.

History of recurrent or severe infections.

History of an underlying malignancy or receipt of cancer chemotherapy within the past 5 years

Receipt of systemic corticosteroids or other systemic immunosuppressants/immunomodulators within the past 30 days

Pregnancy or lactating

History of heart, lung, kidney disease, or bleeding disorders.


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Citations:

Ahonen P, Myll(SqrRoot) rniemi S, Sipil(SqrRoot) I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med. 1990 Jun 28;322(26):1829-36.

Ascah KJ, Hyland RH, Hutcheon MA, Urbanski SJ, Pruzanski W, St Louis EL, Jones DP, Keystone EC. Invasive aspergillosis in a "healthy" patient. Can Med Assoc J. 1984 Aug 15;131(4):332-5.

Atkinson TP, Sch(SqrRoot) ffer AA, Grimbacher B, Schroeder HW Jr, Woellner C, Zerbe CS, Puck JM. An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family. Am J Hum Genet. 2001 Oct;69(4):791-803.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Michail S. Lionakis, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
BG 10 RM 11C102
10 CENTER DR
BETHESDA MD 20814
(301) 443-5089
lionakism@mail.nih.gov

Cathleen Frein, R.N.
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 10
Room 4A-31
10 Center Drive
Bethesda, Maryland 20892
(301) 402-1006
freinc@mail.nih.gov

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT01386437

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