Neurogenetics Research Clinic

Neurogenetic conditions are rare and people with neurogenetic conditions often meet health care professionals who have not seen a patient with their condition before. Due to advances in genetic research and technology, treatment options for neurogenetic conditions are now being trialled and there is a real possibility of treatments becoming available.

The CBR Neurogenetics Research Clinic was established to advance clinical care and rehabilitation in neurogenetic disease. The team, led by Associate Professor Richard Roxburgh, a consultant neurologist, includes neurophysiologists, physiotherapists genetic counsellors, and study coordinators, and relies upon collaborations with basic scientists, vestibular audiologists, speech language therapists, and others.

The clinic is supported through partnerships with charitable organisations including The Duncan Foundation and the Friedreich Ataxia Research Association (FARA NZ).

Our first aim is to contribute to the development and validation of clinical outcome measures and biomarkers in collaboration with international colleagues. We need to have reliable measures of changes in symptoms so that when a treatment becomes available to be tested in a clinical trial, we can reliably measure if it is causing an improvement or not.

Our second aim is to provide a coordinated review of a patient’s rehabilitation needs across disciplines including physiotherapy, orthotics, speech and language therapy, audiology, and vision sciences. We want to build on our expertise within the research team and help to spread this expertise throughout New Zealand to ensure implementation of disease-specific and individualised care nationwide.

We also coordinate clinical trials at the Neurogenetic Research Clinic.

At the clinic, we see participants as part of a research study, for observational assessments and evaluations according to their particular neurogenetic condition. During an appointment, a participant may see a variety of experts within our research team, such as a Neurologist, Neurophysiologist, Vestibular Audiologist, Neurophysiotherapist, Speech Language Therapist, and Genetic Counsellor.

All participants need to be enrolled in Pūnaha Io the New Zealand Neuro-Genetic Registry & Biobank prior to attending the clinic. This ensures you're invited into the study that’s right for you. You can enrol in Pūnaha Io the New Zealand Neuro-Genetic Registry & Biobank by emailing neurogenetics@adhb.govt.nz or by using the contact details provided at the bottom of this page.

• Friedreich Ataxia Clinical Consortium UNIFAI natural history study
  
• Observational Study for Inherited Ataxia's including SCA6, CANVAS, SCA27B
• Characterisation of the eighth cranial nerve in CMT1A
  
• Use of ultrasound to investigate nerves in people with neuromuscular conditions
• Longitudinal prospective study of spinal muscular atrophy (SMA)
• Finding the Genetic Cause in undiagnosed inherited ataxia

Please contact cbr.nrc@auckland.ac.nz for more information or to participate in any of these studies.

Clinical outcome measures and biomarkers in myotonic dystrophy type 1 (END DM1)

GRASP BMD - natural history study of Becker muscular dystrophy

Transcranial direct stimulation (tCDS) and exercise physiotherapy in SCA1

Cognition in CANVAS

Currently recruiting for clinical trials in:

• Facioscapulohumeral muscular dystrophy type 1
  
• Myotonic dystrophy type 1
  
• Spinocerebellar Ataxia type 2

Upcoming clinical trials:

• Huntington’s Disease

• Associate Professor Richard Roxburgh
• Kay Yeoman
• Dr Rachael Taylor
• Dr Luciana Pelosi
• Dr Gina O’Grady
• Miriam Rodrigues     
  
• Dr Melanie Doerflinger   
  
• Dr Benson Chen
• Juno Barnett Collins
• Sarah Mollet
• Catherine Watts
• Michelle Liddicut     
  
• Dr Ming Wu    
  
• Andrea Firers
• Dr Christina Buchanan
• Sarah Nagar

PhD students

• Zay Melville
• Tame Vaihali