The children’s neuromuscular service in Leeds was established in 1992 and provides support to the 1 million or so children in what was the old ‘Yorkshire Health Authority’. Over the years the service has grown and developed considerably. We offer full diagnostic facilities including multidisciplinary clinical assessment, muscle biopsy and histopathology, neurophysiology (Electromyography and Nerve conduction), muscle MRI (magnetic resonance imaging) genetic evaluation and testing.
The current NM team comprises 2 consultant paediatric neurologists, 2 specialist care advisors, 2 specialist neuromuscular physiotherapist, a specialist NM occupational therapist and a specialist NM nurse. In patient care is supported by senior therapists from the paediatric neurosciences and respiratory service. The team have access to support from SALT, dieticians, psychologists and other clinical teams based at the Leeds Children’s Hospital. As the Children’s Hospital is co-located with adult services, the full range of adult services is also readily accessible.
The service carries a caseload of 400+ children with NM disorders and undertake 2-3 NM clinics/week. Our caseload includes a high percentage of families from a South Asian background with a high prevalence of NM disorders, particularly those inherited in an autosomal recessive manner as a result of consanguineous marriage. These conditions are often more challenging to diagnose and manage and require greater resources from the clinical team. We work closely with the regional neuroscience network and Yorkshire and Humber NM forum to streamline referral pathways and ensure consistent management across our network.
The Leeds NM team has always been actively involved in the UK Neuromuscular Consortium and Northstar network, contributing to national audits such as Northstar and Smartnet, developing guidelines and protocols and working to support service developments and access to novel interventions/treatments in Yorkshire and across the UK
As a consequence of the care provided, we have been recognised by MDUK as a “Centre of Excellence” in the management of Paediatric NM disorders in 2012 and again in the most recent review in 2015.
In the last few years we have significantly expanded our research portfolio and developed our skills in successfully undertaking a wide range of clinical trials in DMD.
Prior to 2013, our immediate trial experience was in relation to other neurological studies in particular interventions for the management of epilepsy. However, we have always been highly committed to research in NM disorders and had a successful track record for recruiting children in Yorkshire to research studies in London and Newcastle.
In 2013 we became a study site for the FOR DMD study looking at the optimal oral steroid regime in DMD, with boys undergoing detailed medical and physiotherapy evaluation. This trial is supported by the University of Rochester in the USA and we have been recognised as one of most successful recruitment sites in this international multi-centre study.
2015: NIH rare disease biomarker study opened and we successfully recruited over and above our target number of patients.
2017 opened as a site for the industry sponsored Sideros study, looking at the effect of Raxone on respiratory function in boys with DMD. Recruited 3/5 target patients with plans to screen a further 4 boys.
2017: Opened and fully recruited to Essence study, a trial to evaluate the benefit of Antisense oligonucleotides to ‘skip’ deletions of exons 45 or 53 in DMD. This interventional study requires weekly IV infusions, with detailed clinical and therapy evaluation.
2017: Received a grant from MDUK to support extension of the ScotDMD study from Scotland to Leeds. This is observational study of bone health in DMD, opened December 17 recruited 12/20 patients to date
2017; approved as site for Vision DMD and Tam DMD
As a consequence of our developing research portfolio we have secured additional funding for a specialist NM nurse, specialist NM physiotherapist, a NM clinical research fellow and a NM coordinator.
We have developed our skills in research methodology, clinical evaluation and assessment. We have excellent support from our Clinical trials facility and R+D department.
In March 2018, we will be able to use the facilities of our new clinical trials unit with dedicated space to support NM studies.
We have strong links with the UK NM consortium, North Star and SMA networks.
We also work closely with MDUK who continue to support the Yorkshire and Humber Muscle forum following the ‘bridging the Gap’ project and the Awaaz forum supporting South Asian families
We have collaborated on a number of publications with our colleagues in the Clinical genetics department, defining the clinical and genetic basis of novel neuromuscular disorders ie MICU1 and EMARD, and with colleagues in other centres to expand the clinical phenotyping of rare NM conditions.
We have always worked closely with our colleagues in Palliative Care, particularly the Research team at Martin House Children’s Hospice with whom we have undertaken a number of projects looking at the role of palliative care in supporting families living with NM disorders
Leeds General Infirmary
|Study Name||Trial Status at Leeds||Overall Trial Status|
|Patient Registry Translarna (Ataluren)||Recruiting||Recruiting|
|Vamorolone Phase 2b (VISION-DMD)||Recruiting||Recruiting|
|Tamoxifen (TAMDMD)||Not yet recruiting||Not yet recruiting|
|FOR-DMD||Fully recruited||Fully recruited|
I have been working as a consultant paediatric neurologist in Leeds since 2001 when I became the Lead for Children’s Neuromuscular Services. It has been a pleasure working with the families and young people under our care and being part of the NM multidisciplinary team.
I am committed to delivering high-quality care to all CYP with NM disorders in Yorkshire and thus work closely with colleagues in other disciplines, with charities and the UK NM consortium. I am a member of the SMA working group and ethical committee.
My clinical research interests include MR imaging and rare disease phenotyping although my predominant research involvement is now in relation to DMD and SMA. I am PI for 6 trials in DMD and 4 upcoming studies. I am a member of the BPNA research committee and the Martin House Research Committee.
I became the neuromuscular care advisor in Hull and East Yorkshire in March 2014. I have a nursing background and am dual trained allowing me to care for adults and children. Previously I worked as Macmillan palliative care nurse for children and young adults in the community. I worked closely with the MDT and liaised with the regional neuromuscular team from Leeds where my passion for neuromuscular patients began.
At present, I am proud to work closely with the regional teams and value the plethora of information and advice that is imparted. although I am now a neuromuscular care advisor I have kept my nursing registration updated.
Sue has 23 years’ experience working as a member of the Leeds Neuromuscular team. Her role is to offer advice and support to children, adults and families affected by a neuromuscular condition particularly around the time of diagnosis and transition to adult services. Another key role is to liaise with other professionals in Health, Education and Social Care to deliver condition-specific training.
She is a member of MDUK Services Development Committee.
Carla has worked as an Occupational Therapist for 4 and a half years and joined the Leeds neuromuscular team in April 2014. Carla works as a children’s occupational therapist covering the neuromuscular team for 1.5 days per week, whilst spending the rest of her time covering the neurology/oncology inpatient caseloads at Leeds Children’s Hospital. Carla attends the Leeds Neuromuscular clinics on a Tuesday and also carries a caseload of Leeds children with neuromuscular conditions, supporting them with their occupational performance at home and school.
Lindsey has over 15 years experience as a member of the Leeds Neuromuscular team. She works as part of the MDT but also runs Physio led clinics seeing patients for follow up. For the last 5 years, she has also been working as the clinical evaluator in an increasing number of research studies that have opened at our centre completing motor and respiratory assessments on young people.
Lindsey is an active member of the Association of Paediatric Chartered Physiotherapists and chairs the Neuromuscular Specialist group.
Dr Karen Pysden has worked as a Consultant in Paediatric Neurology and within the Paediatric neuromuscular service in Leeds since 2009.
I am a paediatric physiotherapist with ten years experience working with children with complex needs over a variety of differing specialities. I have worked in both an inpatient and outpatient setting with experience of community-based work.
During my time as a children's physiotherapist, I have worked with children with neuromuscular conditions during acute episodes of illness including work on intensive care, though to orthopaedic type procedures and the on-going rehab during their stays on the ward.
Yvonne joined the Leeds Neuromuscular team in March 2017. Prior to that Yvonne worked with children with complex physical and learning needs for 10 years in the community.
Yvonne works as part of the MDT in regional clinics across Yorkshire and the Humber. As well as supporting the regional community Occupational Therapists Yvonne is the local Occupational Therapist for Leeds children. Yvonne works closely with schools and local authority therapists to ensure that boys with DMD have the appropriate adaptations at home and school, and appropriate support at school to achieve and participate in school life.
Yvonne is a member of Royal College of Occupational Therapists.
The role will be a key contact for patients and families, providing support and advice that will help families to manage their child’s symptoms at home and to know when to access hospital support where appropriate.
To develop and review standardised care pathways and emergency protocols for children with neuromuscular disorders for the entire clinical network in liaison with the other team members and local services.
The role will support the team in delivery in their generic roles of liaison, education and networking with local services in particular children’s community nurses.
Through the development of nurse-led clinics to support patients on long-term steroids and those who require frequent medication review.
To contribute to high standards of care required to maintain centre of excellence status including timely data entry to UK national audits
Provide specialist knowledge and training to nurses in neuromuscular disorders via forums such as neuromuscular courses, meetings and annual study days.
Christina trained in Spain and has been working as a paediatrician in primary care there for several years. She has now moved to the team in Leeds in a clinical fellow role, funded by the DMD Hub.
Nadia joined the team in June 2018, funded by the DMD Hub. She is responsible for organising and updating the teams neuromuscular database, organising clinics including research clinics, setting up multi-disciplinary care meetings with colleagues who deal with care for adult patients, neuropathology, genetics and radiology. She also administrates the centres national databases and observational studies.