Dear Parents and Caregivers,

Thank you for your interest in the HADDTS Foundation and our Natural History Study for CTBP1-related syndrome (also known as HADDTS).
Whether your child is living with this condition or has passed away, your experiences and data are invaluable to advancing research and supporting other families. The HADDTS Foundation was created to give individuals and families affected by CTBP1-related syndromes a voice, to connect you with one another, and to provide ongoing support every step of the way.

Why a Natural History Study Matters

HADDTS is an nano-rare condition, and understanding its full spectrum is essential for progress. Our Natural History Study, launched in partnership with Simons Searchlight and the Foundation for Rare Diseases, aims to document the progression of the disease across all cases, including those of children who have sadly passed away. This helps avoid survivorship bias, where insights are limited to only those who are still with us, and ensures a more complete picture of the syndrome.

Participating in the study will:

• Empower future families to receive immediate, informed medical support from doctors right after diagnosis.

• Prevent situations where parents concerns are dismissed or not believed by physicians. (Upcoming Scoliosis etc.)

• Deepen our understanding of each specific CTBP1 mutation.

• Pave the way for researchers to explore potential treatments in the future, including drug repurposing and genetic therapies.

Without comprehensive natural history data, official treatment development cannot move forward. Your contribution will make a profound impact on the lives of others facing this rare disease.

How to Join the Study

To join the study please fill out our form to register yourself with us, you can find the form in the Families Section of our website.

Information about the study

All Information of the Call for Projects can be found on the website of the Foundation for Rare Diseases.
https://fondation-maladiesrares.org/wp-content/uploads/2025/12/20251204-HADDTS-25-Call.pdf

The study will likely be based on surveys, MRIs, medical records, and one extra examination of your treating physician.
But the specifics are up to the research team.

We understand how overwhelming this can feel, especially in the face of a nano-rare disease like HADDTS. Please know that you have a community here, families just like yours, ready to connect and support one another. If you're aware of other individuals or families affected by CTBP1 mutations (living or deceased), we encourage you to share our website and information about the Natural History Study. Together, we can amplify our impact.

If you have any questions, need help with registration, or simply want to talk, don't hesitate to reach out. We're here for you.

With warm regards,
The HADDTS Foundation Team