Overview
Microsporidiosis is an infectious disease caused by microsporidia, a group of obligate intracellular parasitic fungi belonging to the phylum Microsporidia. Over 1,400 species have been identified, but only about 17 species are known to infect humans, with Enterocytozoon bieneusi and Encephalitozoon intestinalis being the most commonly implicated. Microsporidia can affect multiple organ systems, including the gastrointestinal tract, eyes, respiratory system, urinary tract, muscles, and central nervous system. The disease predominantly affects immunocompromised individuals, particularly those with HIV/AIDS, organ transplant recipients on immunosuppressive therapy, and other individuals with weakened immune systems, though cases in immunocompetent persons have also been reported. The most common clinical presentation is chronic watery diarrhea, which can be severe and debilitating, leading to significant weight loss, malabsorption, and dehydration, especially in immunocompromised patients. Ocular microsporidiosis, typically caused by Encephalitozoon species or Vittaforma corneae, manifests as keratoconjunctivitis with symptoms of eye pain, redness, photophobia, and decreased visual acuity. Disseminated disease can involve the sinuses (sinusitis), kidneys (nephritis), liver (hepatitis), brain (encephalitis), and skeletal muscles (myositis). In immunocompetent individuals, the infection is often self-limiting, primarily presenting as self-resolving diarrhea or ocular disease. Treatment depends on the infecting species and the patient's immune status. Albendazole is effective against most Encephalitozoon species and is considered first-line therapy for many forms of microsporidiosis. However, Enterocytozoon bieneusi, the most common species causing intestinal disease, responds poorly to albendazole; fumagillin has shown efficacy but is associated with significant side effects including thrombocytopenia. For HIV-infected patients, immune reconstitution through antiretroviral therapy (ART) is a critical component of management and can lead to resolution of infection. Topical fumagillin eye drops have been used for ocular microsporidiosis. Prognosis is generally favorable with appropriate treatment and immune restoration, but the disease can be life-threatening in severely immunocompromised individuals if left untreated.
Clinical phenotype terms— hover any for plain English:
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventUniversity Hospital, Clermont-Ferrand
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Microsporidiosis.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Microsporidiosis.
Community
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Start the conversation →Latest news about Microsporidiosis
Disease timeline:
New recruiting trial: Intestinal Microsporidiosis in French Heart Transplant Recipients (CARMIC)
A new clinical trial is recruiting patients for Microsporidiosis
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Microsporidiosis
What is Microsporidiosis?
Microsporidiosis is an infectious disease caused by microsporidia, a group of obligate intracellular parasitic fungi belonging to the phylum Microsporidia. Over 1,400 species have been identified, but only about 17 species are known to infect humans, with Enterocytozoon bieneusi and Encephalitozoon intestinalis being the most commonly implicated. Microsporidia can affect multiple organ systems, including the gastrointestinal tract, eyes, respiratory system, urinary tract, muscles, and central nervous system. The disease predominantly affects immunocompromised individuals, particularly those wi
Are there clinical trials for Microsporidiosis?
Yes — 1 recruiting clinical trial is currently listed for Microsporidiosis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Microsporidiosis?
16 specialists and care centers treating Microsporidiosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.