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The NIH Natural History Study for Jansen's Disease

Now Enrolling: Be Part of Advancing Research for Jansen's Disease and Related Parathyroid Disorders

The National Institutes of Health (NIH) is currently enrolling participants for a Natural History Study of Parathyroid Disorders, and individuals with Jansen's Disease are strongly encouraged to participate.

This landmark study aims to understand the long-term progression of parathyroid disorders, including those caused by or related to PTH receptor mutations, such as in Jansen's Disease. Participation helps define the future of diagnosis, treatment, and care for this rare disease community.

View the full study on ClinicalTrials.gov

Why Participate?

For patients and families living with Jansen's Disease, this study offers a meaningful opportunity to contribute to scientific discovery and ensure lived experience informs medical understanding.

The Jansen's Foundation covers all travel and accommodation costs for study participants and one caregiver or parent/guardian, helping remove barriers to participation.

By participating, you help researchers:

  • Understand how Jansen's Disease and related parathyroid disorders evolve over time
  • Identify new biomarkers to improve diagnosis and disease monitoring
  • Inform the design of future clinical trials, including potential therapies
NIH Natural History Study participants and investigators at the NIH Clinical Center
Dr. Smitha Jha and the first Jansen's patients in the Natural History Study - Arshaan Adam, Jahan Adam, and Dr. Neena Nizar. NIH Clinical Center, 2023.

Who Can Participate?

  • Children and adults 6 months of age or older
  • Individuals diagnosed with Jansen's Disease or at risk for a parathyroid disorder
  • Biological relatives of affected individuals may also be eligible

What to Expect as a Participant

Participation may include:

  • Review of medical records
  • In-person or telehealth visits with NIH physicians
  • Health questionnaires addressing physical, mental, and social well-being
  • Collection of biological samples such as saliva, blood, urine, cheek swabs, or stool
  • Optional skin biopsy (adults only)
  • Medical photographs and, when applicable, leftover surgical tissue (with consent)

This is an observational study. Participants are not asked to change current medical treatment. Participation may continue as long as care is received and the participant wishes to remain involved.

International Jansen's Disease participant visiting the NIH Clinical Center
Sheila Oliveira, the first international Jansen's patient, traveled from Brazil to the NIH Clinical Center in Washington, DC.

We Need You

Jansen's Disease is ultra-rare, and every participant makes a meaningful impact. Data collected from even a small number of individuals can lead to breakthroughs in understanding disease progression and shaping future research and care.

By participating, you are helping build the foundation for better treatments, more answers, and greater hope for all who live with Jansen's Disease.

How to Enroll or Learn More

To join the study, ask questions, or receive personalized assistance and travel coordination, please contact The Jansen's Foundation at: info@thejansensfoundation.org

Together, We Move Research Forward

Thank you for considering this important opportunity. Your story can shape the future of care for Jansen's Disease.