Rare infectious disease

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:68416
Who is this for?
Show terms as
1Active trials3Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Rare infectious diseases are a broad group of infections caused by uncommon bacteria, viruses, fungi, parasites, or prions that affect a small number of people worldwide. Orphanet groups these conditions under code 68416 as a general category rather than a single specific disease. These infections can affect virtually any part of the body, including the brain, lungs, liver, skin, blood, and immune system. Symptoms vary widely depending on the specific pathogen involved but may include prolonged fevers, unusual rashes, organ damage, weight loss, and fatigue that does not improve with standard treatments. Because these infections are rare, they are often difficult to diagnose. Doctors may not immediately recognize the symptoms, leading to delays in treatment. Many rare infectious diseases are found in specific geographic regions or affect people with weakened immune systems, travelers, or those exposed to unusual animals or environments. Treatment depends entirely on the specific infection. Some rare infections can be cured with targeted antibiotics, antiviral drugs, antifungal medications, or antiparasitic therapies. Others may be harder to treat, especially if the pathogen is resistant to available drugs or if the disease is diagnosed late. Supportive care, including fluids, nutrition, and management of complications, is often an important part of treatment. Research into new diagnostics and therapies for rare infections is ongoing but often underfunded compared to more common diseases.

Key symptoms:

Prolonged or recurring feverUnexplained weight lossSevere fatigueUnusual skin rashes or soresSwollen lymph nodesNight sweatsOrgan enlargement such as liver or spleenChronic diarrheaMuscle and joint painDifficulty breathingConfusion or neurological changesBleeding that is hard to stopPersistent coughVision changesSlow-healing wounds

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events
Feb 2022Genetic Susceptibility to Severe Infections

Institut National de la Santé Et de la Recherche Médicale, France — NA

TrialRECRUITING
Jul 2000Pyrimethamine, Sulfadiazine, and Leucovorin in Treating Patients With Congenital Toxoplasmosis

National Institute of Allergy and Infectious Diseases (NIAID) — PHASE4

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Rare infectious disease.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
N/A1 trial
Genetic Susceptibility to Severe Infections
N/A
Actively Recruiting
PI: Jacinta Md BUSTAMANTE, MD-PhD · Sites: Paris, Île-de-France Region

Specialists

3 foundView all specialists →
AP
Antonio Martorell, PhD
Specialist
PI on 3 active trials
JM
Jacinta Md BUSTAMANTE, MD-PhD
Paris, Île-de-France Region
Specialist

Rare Disease Specialist

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Rare infectious disease.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Rare infectious diseaseForum →

No community posts yet. Be the first to share your experience with Rare infectious disease.

Start the conversation →

Latest news about Rare infectious disease

Disease timeline:

New recruiting trial: Pyrimethamine, Sulfadiazine, and Leucovorin in Treating Patients With Congenital Toxoplasmosis

A new clinical trial is recruiting patients for Rare infectious disease

New trial: Genetic Susceptibility to Severe Infections

Phase NA trial recruiting. Blood samples drawing

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.

Questions for your doctor

Bring these to your next appointment

  • Q1.What specific pathogen is causing my infection, and how was it identified?,What treatment options are available, and how long will treatment last?,Are there any clinical trials or experimental treatments I should consider?,Is this infection contagious, and do my family members need to be tested or take precautions?,What are the possible long-term effects of this infection even after treatment?,How will you monitor whether the treatment is working?,Should I see any additional specialists for complications of this infection?

Common questions about Rare infectious disease

What is Rare infectious disease?

Rare infectious diseases are a broad group of infections caused by uncommon bacteria, viruses, fungi, parasites, or prions that affect a small number of people worldwide. Orphanet groups these conditions under code 68416 as a general category rather than a single specific disease. These infections can affect virtually any part of the body, including the brain, lungs, liver, skin, blood, and immune system. Symptoms vary widely depending on the specific pathogen involved but may include prolonged fevers, unusual rashes, organ damage, weight loss, and fatigue that does not improve with standard t

Are there clinical trials for Rare infectious disease?

Yes — 1 recruiting clinical trial is currently listed for Rare infectious disease on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Rare infectious disease?

3 specialists and care centers treating Rare infectious disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.