Paediatric research

Bristol Neuromuscular Research Group

My colleagues in the adult neuromuscular service and I have set up the Bristol Neuromuscular Research Group; a new research initiative and collaborative group with the University of Bristol, NHS Trusts, commercial organisations and charitable organisations.  The aim of this group will be to deliver cutting edge clinical research into paediatric and adult neuromuscular conditions.

I am confident that in the long run we will be able to bring translational research (research from the bench to the bedside) to the South West and embed it into our daily clinical work.  I hope that this development will help to transform the lives of our patients and their families.

http://www.bristol.ac.uk/clinical-sciences/research/neurosciences/research/

Paediatric NM focus Research

I lead the Paediatric arm of the Bristol Neuromuscular Research Group based at the Bristol Royal Hospital for Children and over the last year I have been able to secure funding and the infrastructure necessary to be able to deliver some of the exciting research that is currently being done.

Thanks to support from Action Duchenne, who has recently agreed to fund a Paediatric Research Physiotherapist post, and to University Hospitals Bristol NHS Foundation Trust for funding a Research Administrator, we will have a team of dedicated research staff to deliver these studies over the next couple of years.  We are also pleased to have a new Neuropathologist joining the hospital who has an interest in neuromuscular research.

Over the past few years we have also developed collaborations with the NIHR DMD Biomarkers study and a study to look at muscle biopsy for Becker MD (BMD) and Intermediate MD (IMD) phenotypes.  Other active collaborations include North Star, Smart net, IBMnet, 100,000 Genome Project and Neuropathy.

Research projects

1.    BARTH syndrome research. NSCAG status, collaboration with Dr Colin Steward. Completed 2014. Muscle involvement (MRS) in children with Barth’s syndrome. Pilot study. Not funded. Completed 2016

2.    End of Life Wishes in young adults with NM conditions- Scoping study. Collaborative study with Prof D Abbott (UoB). David Telling Grant £24,500. Completed 2015

3.    End of Life Wishes in young adults with NM conditions-Collaborative study with Prof D Abbott (UoB). MDC Grant £40000. Completed 2017.

4.    Respiratory Endurance in Children with NM condtions. Jane Hegerty; PhD project collaboration with Prof Henderson (UoB) Completed 2010

5.    Mechanisms of Actin mutations in CTFD. Collaboration with Prof Muntoni (UCl) Completed 2008

6.    CDKL5 ; more than an epileptic encephalopathy? Collaboration with Dr S Amin (UoB) Ongoing study.

7.    Physician choices in SMARD1 a questionnaire study. CI Completed 2017

8.    Sexuality in Adolescents with Disability. CI Completed 2018

9.    100000 Genome project. Rare diseases Genomics Board Member. Ongoing 2017-2019

10. Inherited Peripheral Neuropathies- collaboration with Bristol Genetics Laboratory (ongoing)

11. Cannabinoids in the MDx mouse – Collaboration with Prof K Foster (University of Reading) Ongoing 2018

12. Functional movement disorders in Children; what happens to them ? CI  (ongoing 2019)

13. Neuromuscular studies:(Industry funded studies in DMD)

1. SATIVEX Study- GWPharma sponsored study. Joint PI. Completed 2014-2016
2. SUMMIT 1004 Utrophin up-regulation Phase 1 study (Completed 2017) PI
3. SUMMIT 1005 trial - Utrophin up-regulation Phase 2 study (Completed 2018) PI
4. WAVE exon 51 skipping PHASE 1 (Completed 2019) PI
5. WAVE exon 51 skipping Open Label Extension (Completed 2019) PI
6. STRIDE; Ataluren in DMD – Research database. Bristol active participant (COMPLETED 2019) PI
7. POLARIS Catabasis –Edoloxanet  sub PI (ACTIVE)
8. GALAXY catabasis Extension study sub PI (ACTIVE)

14. North Star Neuromuscular network- Collaboration with MRC centre. Bristol is an active participant. (active 2007-present)

15. SMART Reach Neuromuscular network- Collaboration with MRC centre. Bristol is an active participant. (active 2007-present)

16. Project Hercules- QoL in DMD study. Collaboration with SCHARR (University of Sheffield) and DMD Hub UK (Active 2018-present) Acknowledgement in Publication.

17. NeuroFly- £20,000. Rare inherited neurological disorders in Children; Drosophila to study disease models. James Hodge, Edgar Buhl, Silvia Sanchez Marco

18. The GW4 Building Communities Generator Award Epilepsy Community. (£15,000)Collaboration with universities of Bath, Bristol, Cardiff and Exeter . Dr James Hodge (UoB, School of Physiology, Pharmacology and Neuroscience)

19. FROMS 16 study with University of Swansea 2022 ( 2 patients contributed)

SWIM (South West Interest in NeuroMuscular) Conference

Organiser and Chair

^#Chaired by Dr S Brady

16 June 2022   - Update in SMA treatments

Treatments

21 June  2019 - Anterior Horn Cell disorders – including MND and SMA

17 Oct 2018- metabolic myopathies and miserable mitochondria

16 June 2018-

23 November 2017 – Neuropathies ^#

8 June 2017 - Respiratory and Neuromuscular Disease ^#

1 December 2016 - The New Genetics: Transforming Research in Neuromuscular Disease ^#

19 May 2016 - Psychology related to Neuromuscular conditions / Transition from paediatric to adult neurology services ^#

19 November 2015 - Neuromuscular disorders and Scoliosis Surgery / Orthopaedic considerations in Neuromuscular conditions

23 April 2015 - Neuromuscular disorders and their impact on child, family and society / Neuromuscular disorders and the heart

20 November 2014 - Transition and Genetics

8 May 2014 - Muscles and Mitochondria in Neuromuscular disorders / Metabolic conditions

21 November 2013 - Bones in Neuromuscular disorders

23 May 2013 - Respiratory issues in Neuromuscular disorders - paediatric and adults

22 November 2012 - Palliative Care

14 May 2012 - Neuromuscular disorders and the heart

1 December 2012 - Myasthenic and Myotonic conditions

5 May 2011 - Bone health and neuropathy

18 March 2010 - Cardiac, Physiotherapy, Spinal Complications and Respiratory care