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F53 Introducing join-HD: the juvenile onset initiative for huntington’s disease
  1. Rebecca Mason1,
  2. Marina Papoutsi1,2,
  3. Beth Ann Griffin1,3,
  4. Catherine Martin1,
  5. Bonnie Hennig-Trestman1,4,
  6. Oliver Quarrell5,
  7. Lauren Byrne1,6
  1. 1Huntington’s Disease Youth Organization
  2. 2IXICO, London, UK
  3. 3RAND Corporation, Arlington, VA, USA
  4. 4Virginia Tech Carilion, Roanoke, VA, USA
  5. 5Sheffield Children’s NHS Foundation Trust, Sheffield, UK
  6. 6University College London, London, UK


Huntington’s Disease (HD) is a rare inherited neurodegenerative disorder with a typical onset between the ages of 30 - 50. Juvenile onset Huntington’s Disease (JoHD), defined by onset of symptoms before the age of 21, manifests differently from adult-onset HD. JoHD, is thought to be present in approximately 5% of HD cases, although the exact prevalence is unknown. It has not been studied extensively.

JOIN-HD is a prospective, observational, multi-national patient registry of individuals (both patients and caregivers) affected by JoHD. The primary objective of the registry is to identify individuals affected by JoHD and to map their locations globally. Secondary objectives include supporting focused research for this population and identifying unmet needs of JoHD families to improve advocacy, care and support. It is anticipated that JOIN-HD will serve as a tool to facilitate recruitment to future research and clinical trials through the identification of potentially eligible participants.

Pre-registration for JOIN-HD opened in Q1 2021, and Stage I is due to launch in Q3 2021. Participants will be invited to self-enrol and participate remotely via an electronic data capture portal. Stage I will capture participant demographics and information about the links participants have with the HD community. Two further stages of the registry are planned, with Stage II collecting data on medical history/experience of JoHD and Stage III incorporating a Clinician led interview.

  • juvenile onset huntington’s disease
  • registry

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