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. Your participation could help define the future of diagnosis, treatment, and care for our rare disease community.

View the Full Study on ClinicalTrials.gov

Why Participate?

For patients and families living with Jansen’s Disease, this is an important opportunity to contribute to scientific discovery and ensure your lived experience is part of how the medical community understands this rare condition.

The Jansen’s Foundation is covering all travel and accommodation costs for study participants and one caregiver or parent/guardian, making it as accessible as possible for our community to get involved.

By participating, you are helping researchers:

  • Understand how Jansen’s Disease and other parathyroid-related disorders evolve over time.

  • Discover new biomarkers to improve diagnosis and tracking.

  • Inform the design of future clinical trials, including potential therapies.

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 with a diagnosis of Jansen’s Disease, or who are at risk of having a parathyroid disorder

  • Biological relatives of affected individuals may also be eligible

What to Expect as a Participant

Participation may include:

  • Review of your medical records

  • In-person or telehealth visits with NIH doctors

  • Health questionnaires (physical, mental, and social well-being)

  • Sample collection (saliva, blood, urine, cheek swabs, or stool)

  • Optional skin biopsy (adults only)

  • Medical photos and, when applicable, leftover surgical tissue (with consent)

The study is observational, you will not be asked to change your current medical treatment. Participation can last as long as you are receiving care and are willing to stay involved.

Sheila Oliveira, our first international Jansen’s patient made it all the way from Brazil to the NIH, DC. Bravo Sheila!!

We Need You

Jansen’s Disease is ultra-rare, and each participant makes a significant impact. Data collected from even a few individuals can lead to breakthroughs in understanding disease progression, identifying early signs, and shaping future research and treatments.

By participating in this study, you’re not just contributing to science, you’re helping build the foundation for better care, more answers, and greater hope for all who live with Jansen’s.

How to Enroll or Learn More

To join the study or ask questions, or for personalized assistance and travel coordination, please contact The Jansen’s Foundation: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.