Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) & Mitochondrial Disorders Clinical Fellow at the John Radcliffe Hospital, Oxford

This is an exciting opportunity for a trainee in adult or paediatric neurology or metabolic medicine (or a doctor hoping to specialise in neurology or an allied specialty) to gain specialist experience in the diagnosis and management of adult and paediatric patients with SMA, other neuromuscular conditions, and mitochondrial disorders through a new position in the Oxford SMA Service and NHS England Highly Specialised Service for Rare Mitochondrial Diseases. The applicant will need GMC registration to apply.

The Oxford Adult and Paediatric Muscle Services and NHS England Highly Specialised Services for Rare Mitochondrial Disorders work collaboratively and have a strong research portfolio with national and international collaborations. In addition, there are several educational opportunities within these specialist services which include muscle - radiology, pathology, and genetics MDT meetings. The post is primarily aimed at individuals wishing to develop specialty skills in the diagnosis and management of patients with neuromuscular disorders. However, there will be research projects for the individual to pursue.

Under Consultant supervision to act as the Oxford SMA Service clinical fellow working within the Oxford Adult & Paediatric Muscle Services and Nationally Commissioned NHS England Highly Specialised Services for Rare Mitochondrial Disorders.

The post holder will be responsible for the delivery of the Nusinersen (Spinraza) for both children and adults. They will be responsible in liaison with the SMA administrator for arranging the daycase admission for adults (Neurosciences ward or the West Wing Neurosciences Investigation Unit), and the paediatric (Paediatric daycase ward). Jointly working with the SMA administrator, the post holder, will liaise with interventional radiology (IR) when patients require IR support for lumbar puncture. An IR dedicated list has been agreed but patients will need to be booked into the list after discussion with neuroradiology administrative team.

If the post holder is an adult trainee, they will have support from paediatric neurology trainees to perform lumbar punctures in children.

**Mitochondrial service**:
NHS England Highly Specialised Services for Rare Mitochondrial Disorders is only one of three specialist mitochondrial services in the UK. This service covers both children and adults with mitochondrial disorders. The post holder will be expected to attend mitochondrial clinics and MDT meetings.

The Oxford SMA Service is a newly NHS England funded SMA treatment centre in England. It is the only service combining the management of both paediatric and adult patients with SMA in a single service.

The SMA Service covers daycase admissions for intrathecal Nusinersen (Spinraza) treatment, a regional specialist SMA outpatient clinic, and MDT meetings led by Dr Brady (Consultant Neurologist and Clinical Lead of the Oxford Adult Muscle Service) and Dr Ramdas (Consultant Paediatric Neurologist and Clinical Lead of the Oxford Paediatric Muscle Service). The NHS England Highly Specialised Services for Rare Mitochondrial Disorders is one of only three such services in the UK. It includes specialist MDT outpatient clinics and MDT meetings. The clinical lead is Dr Nesbitt (Consultant Paediatrician and Clinical Lead of NHS England Highly Specialised Services for Rare Mitochondrial Disorders).

Under Consultant supervision to act as the Oxford SMA Service clinical fellow working within the Oxford Adult & Paediatric Muscle Services and NHS England Highly Specialised Services for Rare Mitochondrial Disorders.

The post holder will be responsible for the delivery of the Nusinersen (Spinraza) for both children and adults. They will be responsible in liaison with the SMA administrator arranging the daycase admission for adults (Neurosciences ward or the West Wing Neurosciences Investigation Unit), and the paediatric (Paediatric daycare ward). Jointly working with the SMA administrator, the post holder will liaise with intervention radiology (IR) when IR support for lumbar punctures mis required. A dedicated IR list has been agreed. Patients will need to be booked into the list after discussion with neuroradiology administrative team.

If the post holder is an adult trainee, they will have support from paediatric neurology trainees to perform lumbar punctures in children.

The post holder will complete the SMA REACH medical assessments and will be responsible for all SMA REACH database enquiries.

**Regional neuromuscular service**:
The Adult & Paediatric Muscle Services are the regional specialist neuromuscular service for the Oxfordshire and the surrounding counties.

Depending on the post holder’s interest they will have opportunity to attend the paediatric or adult muscle clinics and MDT’s.

**Mitochondrial service**:
NHS England Highly Specialised Services for Ra