Rare disease collaborative networks

Rare disease collaborative networks (RDCNs) are an important part of the NHS architecture initiated by NHS England and NHS Improvement to improve care and support for patients with rare diseases.

Operating principles

RDCNs are expected to operate under the following principles:

  • RDCNs are made up of groups of providers (Rare disease collaborative centres (RDCCs)) who have an interest in developing understanding of a particular rare disease and are committed to working together to progress research, increase knowledge and improve patient experience
  • RDCNs should include providers that are research-active in a particular rare/very rare disease
  • They are based on the principle that, when it is practical, ‘the knowledge moves rather than the patient’
  • They must be focused on rare/very rare diseases where expertise is likely to be scarce and where there may also be benefits in national and international collaboration
  • RDCNs should describe and demonstrate a positive impact on patient experience and provide good geographical coverage
  • RDCNs provide one of a number of tools for NHS England and NHS Improvement to take forward its rare disease agenda

Monitoring progress

RDCNs are supported by the NHS England and NHS Improvement Highly Specialised Commissioning team (HSCT) and independently set their own priorities and objectives. Each year, HSCT will require the RDCN to submit a brief progress report and to attend a “touch base” meeting with their allocated commissioning manager. The progress report will be presented to the Rare Diseases Advisory Group (RDAG) for information and update.

Current RDCNs

20 RDCNs had been established to date across a range of specialties and disease groups:

RDCN Designated providers Description
CDKL5 University Hospitals Bristol and Weston NHS Foundation Trust CDKL5 is a rare genetic neurodevelopmental condition which affects children. It is characterised by seizures and developmental challenges.
National Refractory Coeliac Disease Lead: Sheffield Teaching Hospitals NHS Foundation Trust

Cambridge University Hospitals NHS Foundation Trust

Refractory coeliac disease is a complex autoimmune disorder which predominantly affects adults. It is characterised by persistence or recurrence of symptoms despite a gluten free diet and is associated with an increased risk of lymphoma.
National Rare Cystic Lung Disease Lead: Royal Brompton Hospital (Guy’s and St Thomas’ NHS Foundation Trust)

Nottingham University Hospitals NHS Trust

Cystic lung disease is an umbrella term for a group of conditions which present with multiple lung cysts. Although each condition can present similarly to another, management differs between each type.
Hereditary Haemorrhagic Telangiectasia (HHT) Lead: Imperial College Healthcare NHS Trust

Bronglais District General Hospital, Aberystwyth

King’s College Hospital NHS Foundation Trust

Royal Free London NHS Foundation Trust

Western General Hospital, Edinburgh, NHS Lothian

Liverpool Women’s NHS Foundation Trust

HHT is a genetic disorder which affects the development of the blood vessels and presents at any age. It commonly first presents with bleeding but causes blood vessels to develop abnormally and can result in widespread complications.

 

 

Moebius Syndrome (MBS) Lead: Liverpool Women’s NHS Foundation Trust Children with MBS are typically born with facial paralysis, preventing them from making facial expressions such as smiling or frowning. As they grow, this paralysis can lead to communication difficulties, necessitating the involvement of specialist speech and language therapy. Additionally, these children often experience feeding and swallowing difficulties from infancy. Abnormal eye movements are another characteristic feature and autism and autistic behaviours are also frequently observed in MBS.
Rare movement disorders (RMDs) Lead: University College London Hospitals NHS Foundation Trust
Great Ormond Street Hospital for Children NHS Foundation Trust
RMDs are genetic or presumed genetic syndromes presenting with abnormalities of movements. These conditions typically result from damage to the basal ganglia, a region of the brain that is normally responsible for planning and coordinating movement, and most result in progressive loss of healthy brain tissue (neurodegeneration).
Congenital Thoracic Malformations Royal Brompton Hospital (Guy’s and St Thomas’ NHS Foundation Trust)

 

Congenital thoracic malformations are a broad group of abnormalities that result in underdevelopment of the chest or lungs. The abnormalities are often first identified before birth.
Familial Pneumothorax Lead: Cambridge University Hospitals NHS Foundation Trust

Queen Elizabeth University Hospital, NHS Greater Glasgow and Clyde

A genetic condition resulting in air accumulating within the chest but outside of the lungs which impacts in breathing. It can affect all ages.
Hereditary Gastrointestinal Polyposis Syndromes Lead: St Mark’s Hospital, (London North West University Healthcare NHS Trust)

University Hospitals Birmingham NHS Foundation Trust

Manchester University NHS Foundation Trust

Royal Infirmary of Edinburgh, NHS Lothian

A genetic condition resulting in the formal of gastrointestinal polyps, often in children and adolescents, leading to a high risk of intestinal cancer.
UK Hyperoxaluria Lead: Royal Free London NHS Foundation Trust

Birmingham Women’s and Children’s NHS Foundation Trust

Great Ormond Street Hospital for Children NHS Foundation Trust

University Hospitals Birmingham NHS Foundation Trust

Hyperoxalurias are a group of diseases (genetic and acquired) which impair the ability of the body to remove oxalate. Accumulation of oxalate can result in a number of complications which include kidney stones, bone fractures, reduced growth and anaemia.
Juvenile Myasthenia Gravis Oxford University Hospitals NHS Foundation Trust Juvenile myasthenia gravis (JMG) is a rare disorder with an estimated incidence of 1.5/million person years in the UK. JMG is defined as MG in patients 18 years and younger but 20% of cases are under 10 when diagnosed.
Segmental Overgrowth and Vascular Malformations Lead: Nottingham University Hospitals NHS Trust

United Hospitals of Derby and Burton NHS Foundation Trust,

St George’s University Hospital NHS Foundation Trust

Birmingham Women’s and Children’s NHS Foundation Trust

Manchester University NHS Foundation Trust

Royal Free London NHS Foundation Trust

Leeds Teaching Hospitals NHS Trust

Segmental overgrowth and vascular malformations are group of rare disorders characterised by asymmetric overgrowth of tissues.
Paroxysmal Motor Disorders St George’s University Hospitals NHS Foundation Trust Paroxysmal motor disorders (PMDs) include a number of very rare neurological diseases that affect the ability to move. Nearly all of the PMDs are rare genetic conditions.
Paediatric and Primary Lymphoedema Lead: St George’s University Hospitals NHS Foundation Trust

Nottingham University Hospitals NHS Trust

United Hospitals of Derby and Burton NHS Foundation Trust

Patients with primary lymphoedema have developmental or functional anomalies of the lymphatic system. They may present with lymphoedema affecting one or multiple body segments or associated with problems affecting other organs or systems.
Mosaic Disorders Great Ormond Street Hospital for Children NHS Foundation Trust Mosaic disorders are a group of rare disorders which present with extensive birthmarks and are caused by a genetic mutation which affects the developing baby during pregnancy.
Tuberous Sclerosis Complex Clinical Network Lead: St George’s University Hospitals NHS Foundation Trust

Belfast City Hospital

Cambridge University Hospitals NHS Trust

University Hospitals Bristol and Weston NHS Foundation Trust

University Hospital of Wales

Guys’ and St Thomas’s NHS Foundation Trust

NHS Greater Glasgow and Clyde

Great Ormond Street Hospital NHS Trust

King’s College Hospital

Liverpool University Hospitals NHS Foundation Trust

Manchester University NHS Foundation Trust

The Newcastle Hospitals NHS Foundation Trust

Nottingham University Hospitals NHS Trust

Sheffield Teaching Hospitals NHS Foundation Trust

Royal Free London NHS Foundation Trust

Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects many different parts of the body and manifests in different people in different ways. It is estimated that it affects about 1 in 6000 to 1 in 10 000 people and shows no preference for men or women or people from different ethnic backgrounds.

TSC causes non-cancerous growths to develop in different organs around the body, such as the brain, eyes, heart and skin. Many of the issues caused by TSC occur as a result of the growths that develop due to the condition. Some of these problems can be life-threatening.

Blooms Syndrome Lead: Royal Manchester Children’s Hospital

Guys and St Thomas’ NHS Foundation Trust

This is a rare genetic disorder with involvement of multiple body systems (including the skin, blood, endocrine, musculoskeletal and immune systems) a significantly increased risk of cancer and reduced life expectancy. It is caused by the inability of cells to maintain the integrity of their DNA.
Adult Rare Bone Disease Network Lead: Oxford University Hospitals NHS Foundation Trust
Leeds Teaching Hospitals NHS Trust
University Hospitals Bristol and Weston NHS Foundation Trust
Cambridge University Hospitals NHS Foundation Trust
Imperial College Healthcare NHS Trust
North Bristol NHS Trust
University Hospitals Birmingham NHS Foundation Trust
The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust
Royal National Orthopaedic Hospital NHS Trust
Sheffield Teaching Hospitals NHS Foundation Trust
University Hospital Southampton NHS Foundation Trust
Cardiff and Vale University Health Board
St George’s University Hospital NHS Foundation Trust
Royal United Hospitals Bath NHS Foundation Trust
Epsom and St. Helier University Hospitals NHS Trust
Midlands Partnership NHS Foundation Trust
Norfolk and Norwich University Hospitals NHS Foundation Trust
Rare bone diseases cover over 450 recognised disorders. These diseases have a considerable impact during childhood and there are established paediatric centres for some disorders. However, there is no equivalent for adults despite increasing awareness of the burden of disease during adulthood.
PTEN Hamartoma Tumour Syndrome Lead: University Hospital Southampton

London North West University Healthcare NHS Trust

Cambridge University Hospital

PTEN Hamartoma Tumour Syndrome (PHTS but often referred by the name of the gene PTEN) is a rare genetic condition, thought to affect between 200 and 300 people in the UK.

There are a wide range of symptoms associated with the condition which can vary considerably in severity. In children it can be associated with macrocephaly, developmental delay, and autism. There is an increased risk of certain types of cancer in adults. Non-cancerous manifestations include breast and thyroid nodules, bowel polyps, brain tumours and problems affecting the skin.

UK Aortopathy and Arteriopathy Network Lead: Guys and St Thomas’ Hospital NHS Trust/Kings Health Partnership, now also including Brompton NHS Trust Hereditary thoracic aortic diseases (HTADs) are a heterogeneous group of disorders caused by more than 30 different genes. The disorders range from those mainly affecting the thoracic aorta (non-syndromic) to conditions affecting multiple organ systems (syndromic).

The syndromes have overlapping features and diagnostics are challenging. The most serious and potentially life-threatening symptoms in HTADs are aneurysms and dissections of the aorta and other large arteries. Other organ systems are also involved.

The priority areas of existing RDCNs include:

  • Raising awareness of the rare disease
  • Improving co-ordination of care
  • Sharing of expertise and best practice
  • Establishing a disease registry to improve the understanding of the epidemiology of the rare disease
  • Research on treatment options and diagnostics
  • Establishing a support network for patients and families, including co-ordinated transition from paediatric to adult services.

RDCN Frequently Asked Questions

Rare Disease Collaborative Networks (RDCNs) are an important part of NHS England’s approach to supporting the NHS to better care for patients with a rare disease. RDCNs are made up of groups of providers (Rare disease collaborative centres (RDCCs)) who have an interest in developing understanding of a particular rare disease and are committed to working together to progress research, increase knowledge and improve patient experience.

13 RDCNs have been established across a range of specialties and disease groups and in providers from a wide spread of regions. Whilst the RDCNs are organised by NHS England RDCCs can be from across the UK.

RDCNs help to bring together leading experts working in a particular rare disease area.

Collaboration between these experts has benefits including: improving understanding of the disease; raising awareness; standardising pathways; and establishing best practice.

RDCNs can be a forum to discuss complex cases and to promote national multi-disciplinary team (MDT) working, thereby ensuring the best outcomes for patients.

Some existing RDCNs are working towards developing their own disease databases or registries which will advance disease surveillance and research.

In addition to the benefits for patients and the service, the status of being part of an RDCN may have advantages for providers. Provider involvement in the network recognises their role as leaders in the field which is likely to further the organisation’s reputation both nationally and internationally. This may lead to greater public interest or increasing research funding.

Depending on the aims of the RDCN, trusts may need to make provision for network members to have dedicated time set aside in their job plans, although this will be different for each network. To ensure success and sustainability, RDCNs are encouraged, where possible, to spread the leadership and workload across the whole network. The establishment of an RDCN is not accompanied by funding; set up or running costs and do not attract additional reimbursement.

The independence afforded to RDCNs allows them to make their own decisions around how best to raise awareness and disseminate information. Some will use networks they are already a part of or use the relationships they have with other organisations (for example Royal Societies, professional societies, charities).

Some RDCNs may choose to develop their own communication with stakeholders which may or may not involve the creation of a website (developed and hosted by the lead provider).

Applications can be received from two (or more) providers who wish to establish the RDCN together. One provider will act as the lead for the RDCN and this should be described in the application. Single site applications will be considered but any single site RDCNs will be encouraged to expand their membership.

Each potential RDCC will need to complete a section of the application form. Each provider wishing to join the RDCN must have a named lead clinician and the application must demonstrate the support of their Chief Executive.

Please email ayesha.ali2@nhs.net for more information on the application process.

The applications received over the course of a calendar year are reviewed on an annual basis by NHS England’s Rare Diseases Advisory Group (RDAG) who advise which applications should be supported. RDAG can also ask the Highly Specialised Commissioning team (HSCT) to seek additional information.

More information about RDAG is available on our website.

The decision to become an RDCC and come together to form a RDCN is made by expert clinicians working in a disease area. NHS England only considers applications that demonstrate the proposed RDCN has the support of the wider trust management and its Chief Executive.

The work of the RDCN is separate to any existing contractual arrangements with NHS England and sits outside the scope of existing commissioned services. As a result, there is no change in funding to the trust or formal reporting arrangements. Separate ‘light touch’ updates will be required to monitor the progress of the RDCN (further details below).

As an RDCN is not a commissioned service NHS England does not have a role in negotiating, endorsing or agreeing the structures, processes and functions within each RDCC (e.g. job planning, funding, project management, room capacity). These are matters for agreement within the organisation and should be considered before any application is made.

The Highly Specialised Commissioning team (HSCT) in NHS England will provide ‘light touch’ support to RDCNs. Each network is allocated a named commissioning manager.

RDCNs is also assigned an NHS England approved logo which they can use on publications and correspondence with patients, patient groups, other stakeholders and when applying for research funding for example.

The establishment of an RDCN is not accompanied by additional funding; set up and running costs are not reimbursed.

The reporting to NHS England is not demanding.

The application requires three objectives for the RDCN for their first year of operation, details about the disease and a brief project plan. These objectives should be practical and realistic and the responsibility for delivery should be for the whole network not just the lead provider.

If an RDCN is approved, the members have an initial introductory meeting with their assigned commissioning manager. After that they are asked to attend a ‘touch base’ meeting once a year with the commissioning manager and provide a brief annual progress report to RDAG for information and update.

Please email Dr Ayesha Ali, Medical Advisor, Highly Specialised Commissioning at ayesha.ali2@nhs.net