This research study is focused on better understanding Hyaline Fibromatosis Syndrome and building the foundation for future treatments.

Because HFS is extremely rare, many doctors only see one or two cases in their entire careers. That makes it difficult for families to find answers, and it slows down the development of therapies. This study helps bring all available medical knowledge, patient experiences, and laboratory research together in one place.

Researchers at institutions such as UCSF are working to:

Better understand how HFS affects the body over time

Track symptoms and disease progression (natural history)

Identify potential targets for future treatments

Build the groundwork needed for pre-clinical and clinical research

This is not just one experiment—it is part of a growing effort to change what is possible for rare disease families.

Why this study matters

For families living with HFS, there are currently very few treatment options that address the root cause of the disease. Most care is supportive—focused on managing symptoms rather than stopping progression.

This research is important because it represents the first real step toward:

Understanding the full natural history of HFS

Creating a shared knowledge base for doctors and scientists

Preparing for future therapies, including gene-based and disease-modifying approaches

Giving families hope that their experiences can lead to real scientific progress

Every participant adds valuable information that helps move research forward.

How families can participate

Families may be able to participate in different ways depending on eligibility and study design. Participation may include:

Sharing medical history and symptom information

Regular check-ins or follow-up visits (in-person or remote, depending on the study)

Providing consent for review of medical records or imaging

Optional participation in future research opportunities as they become available

In many cases, families do not need to live near the research center. Some parts of the study may be done remotely to reduce travel burden.

If you are interested in joining or learning more, you can contact the research team through your care provider or reach out directly to the study coordinators associated with HFS research at UCSF.

Why this is so important

For rare diseases like HFS, progress only happens when families and researchers work together. Every child and every story helps build the scientific understanding needed to move toward treatment.

This study represents more than data—it represents a community coming together to change what the future looks like for children living with HFS.

Through continued research, collaboration, and funding, we are working toward a future where HFS is not only understood, but treatable.

Sign up for the study!

If you would like to participate or have any questions please contact Dr.Joseph Shieh.

Phone: (415)476-2757

E-mail: joseph.shieh2@ucsf.edu