Aims

Including children and young people with HD in research is particularly important because the effectiveness of new treatments needs to be assessed in this small widely dispersed group of patients.

  • To this end we aim to develop methods of assessing children and young people with HD so that future interventions can be studied in these patients.
  • To facilitate clinical studies in children and young people with HD.
  • To provide advice on protocol development for sponsors developing Paediatric Investigation Plans for the European Medicines Agency.

Projects

The origin of term Juvenile HD (JHD) is usually defined as those having an onset ≤20 years. The problem with this definition is that it actually means juvenile-onset HD; therefore, most cases are young adults. EMA has recently changed its regulations and requires sponsors to present a Paediatric Investigation Plan for the small group of HD patients currently under 18 years. We introduce the term Paediatric HD to identify this group and phase out the term JHD.

Identifying patients with PHD
We are working with the Young Adult Group to develop a project which will identify young people currently affected by HD who are under 18 years. We aim to develop a simple on-line report form. This will help to have a better understanding of PHD prevalence and also on presentation. This will be needed to establish guidelines for specific clinical problems in this age range.

Developing tools for clinical trials in PHD
In a global effort with investigators in America and Asia, pharmacological companies and sponsors we plan to develop protocols for studying interventions in the PHD group.

Publications
Quarrell OW, Nance MA, Nopoulos P, Reilmann R, Oosterloo M, Tabrizi SJ, Furby H, Saft C, Roos RA, Squitieri F, Landwehrmeyer GB, Burgunder J-M. Defining Pediatric Huntington’s Disease: Time to abandon the term Juvenile Huntington’s Disease? Movement Disorders 2019, 34: 584-585
Horton MC, Nopoulos P, Nance M, Landwehrmyer GB, Barker RA, Squitieri F, REGISTRY Investigators of the European Huntington’s Disease Network, Burgunder J-M, Quarrell O. Assessment of the Performance of a Modified Motor Scale as Applied to Juvenile Onset Huntington’s Disease. Journal of Huntington Disease 2019, 8: 181-193
Quarrell OWJ, Nance MA, Nopoulos P, Paulsen JS, Smith JA, Squitieri F. 2013. Managing juvenile Huntington’s disease. Neurdegen Dis Manage 3: 267-276.

Contact

Lead Facilitators:
Consultant in Clinical Genetics
Dept. Clinical Genetics Sheffield Children’s Hospital
Sheffield, UK
Professor of Neurology
Swiss HD Center, Neurozentrum Siloah and Department of Neurology, University of Bern
Bern, Switzerland
Associated EHDN Language Area Coordinator:
Rafaela Rosa, EHDN Lanco, Portugal