Systemic JIA Foundation

Cycle 1

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Systemic juvenile idiopathic arthritis (JIA) is a are pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittently high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis.

Last updated 04/30/2026

Clinical

Disease Class

Immunological diseases

Body Systems

Hematopoietic / Lymphatic / Immune

Respiratory

Organs

Connective tissue / joints

Heart

Liver

Lungs

Known Genetic Link

Yes, genetic factors contribute to the risk or severity of the condition

Causative Genes

None specified / unknown

Contributory Genes

None specified / unknown

Type of Inheritance

Not specified / unknown

Newborn Screening

Not applicable

Disease Mechanism(s)

Aberrant immune response

Age of Onset

Early childhood (age 1+-5)

Average Age at Diagnosis

Early childhood (age 1+-5)

Life Expectancy

Adulthood (age 18-64)

Affected Sex(es)

Female

Male

National Prevalence

10000+

Global Prevalence

Unknown

National Incidence

11-50

Global Incidence

Unknown

Populations and/or ancestry with higher prevalence

More cases than typical in India and Japan

Symptoms / Phenotypes

fever

joint pain / arthralgia

skin redness and/or swelling

Biomarkers

Diagnostic

· Il18 level, Interferon gamma markers such as cxcl9

Monitoring

· Ferritin, crp, cbc, platelets, il18

Therapeutic

· Il18, cxcl9

Existing Therapies

Expanded access (Compassionate Use)

Regulatory Agency-Approved to Cure or Modify the Disease

· Emapalumab

Therapies in Development

Cellular therapies (stem cell transplants, CAR-T therapies, etc.)

· Bone Marrow Transplantation

Repurposed drug

· Jak inhibitors

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

In clinical trials (Phase I, II, III, or IV)

Therapeutic Development Role

Focus group participation or coordination

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Outcome measures development

Organizational & Research

Cell Lines

None

Cell Lines, Institution

None

Cell Lines, share

N/A

Disease Model

None

Disease Model, share

N/A

Organizational Challenges

Research infrastructure development, engaging with EMA (European Medicines Agency)

Clinical Trial Role

Focus group

Meeting with regulators

Outcome measures, development

Recruitment and outreach, patients

Study material design, review (not protocol)

Clinical Trial Types

Phase 2

Phase 3

Biobank, Institution

Cincinnati Children's Hospital

Biobank, Involvement

Consulted

Funded

Center of Excellence, Institution

Children’s Hospital of Philadelphia (CHOP)

Cincinnati Children's Hospital

Center of Excellence, Involvement

Consulted

Endorsed/Certified/Accredited

Registry

Yes, we have collaborated on a registry

Data Collected, Registry

Clinical data

Genetic data

Imaging data

Medication usage

Patient-reported data

Data Entered by, Registry

Clinicians

Platform, Registry

Not specified

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Electronic health records/electronic medical records

Medication usage

Patient-reported outcomes

Prospective data

Retrospective data

Platform, Natural History Study

IQVIA

REDCap

FDA Patient Listening Session

Yes

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

Yes, we have an ICD-11 code specific to our exact disease

Diagnostic Guidelines

Science Advisory Board Policies

No policies

Research Network Policies

Has CRN but not willing to share policies

Patient Priority Survey

Research Roadmap

Yes we have a Research Roadmap, but will not share policies

Europe