JOIN-HD: A platform for Juvenile HD

– Written by the Moving Forward team on March 9th, 2023

JOIN-HD is a worldwide registry for families affected by Juvenile onset Huntington’s Disease (JoHD), which aims to shed light on this diagnosis, bring together those impacted by JoHD, increase awareness and knowledge about this condition, facilitate research and help advocate for better care.

Juvenile onset Huntington’s Disease is diagnosed when a 20-year-old person or younger develops unequivocal HD symptoms. Within the rare disease community, JoHD is extremely rare, as it occurs in about 5% of people with Huntington’s disease. JOIN-HD is a patient registry, a type of study that aims to collect information about people who are affected by a specific disease. It is an international registry where people can self-enroll and answer online questionnaires.

The study was created to help researchers find people with JoHD, so that they can learn more about this rare HD sub-group, have a comprehensive overview of this condition, answer specific research questions, and identify persons who may wish to participate in further research.

This study is managed by HDYO – Huntington’s Disease Youth Organization and is funded by a group of pharma companies – Roche, PTC Therapeutics, UniQure and Novartis. Persons with JoHD, their caregivers, and persons who were caregivers of someone with JoHD can participate in JOIN-HD. All information collected will be kept confidential.

JOIN-HD is conducted online, so all information collected will use web-based questionnaires. The study will include multiple stages and is currently open in Stage 1 (Pre-Register). In Stage 1, participants will be asked to give their consent to take part in JOIN-HD and give information about the connections they have with the HD community.

A registry coordinator will help families during this phase. Stage 1 participants will be invited to take part in future stages of JOIN-HD, once they become available. The pre-register form is available in Dutch, English, German, Italian, Portuguese, Russian and Spanish. Although the JOIN-HD study is only available in English for now, it will be translated to other languages.

JOIN-HD reinforces the need to establish strong links with local groups and national associations. As JoHD is a very rare condition, the way it affects children, teenagers and young adults is still largely unknown. Moreover, its low prevalence makes it even more difficult for care providers, clinicians, and researchers to connect with families affected by this largely unknown condition.

This is why the collaboration with local and national organizations will play a key role in reaching out to these families and involving them in this groundbreaking research which will finally put JoHD in the limelight. Thus, we believe the launch of the JOIN-HD study marks a new important progress in HD research, since it will help to bring us closer to effective approaches in the care and treatment of JoHD.

Child participation in clinical trials is a very complex and time-consuming enterprise for everyone involved. HD families affected by JoHD hope that the recruitment of participants in JOIN-HD can run as fast and smoothly as possible, so that researchers can move forward and enter news stages of drug experimentation in Juvenile onset HD with a more solid and comprehensive knowledge about this HD sub-group.

We are sure that all families touched by JoHD will sincerely appreciate the efforts of JOIN-HD to provide them with much needed knowledge, support and hope.

More details about JOIN-HD can be found here: