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F12 Join-HD: the juvenile onset initiative for Huntington’s disease
  1. Rebecca Mason1,
  2. Lauren Byrne1,2,
  3. Marina Papoutsi1,3,
  4. Beth Ann Griffin1,4,
  5. Catherine Martin1,
  6. Bonnie Hennig-Trestman1,5,
  7. Oliver Quarrell6
  1. 1Huntington’s Disease Youth Organization
  2. 2University College London, UK
  3. 3IXICO, UK
  4. 4RAND Corporation, USA
  5. 5Virginia Tech Carilion, USA
  6. 6Sheffield Children’s NHS Foundation Trust, 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 the onset of symptoms before age 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 map their locations globally. Secondary objectives include supporting focused research for this population and identifying the 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 by identifying potentially eligible participants. Pre-registration for JOIN-HD opened in Q1 2021, and Stage I launched in Q1 2022. Participants are invited to self-enrol and participate remotely via an electronic data capture portal. Stage I captures demographics and information about participants’ links with the HD community, with data collected since launch presented here. 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.

  • JoHD
  • PHD
  • Registry
  • Observational Research
  • Patient Advocacy

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