Rare disease: final progress report

The Scottish Implementation Plan, It’s Not Rare to Have a Rare Disease was first published in 2014 following the publication of the UK Strategy for Rare Diseases Strategy in November 2013. This final report evaluates Scotland’s progress against each of those 51 commitments set out in the 2013 strategy.

3. Diagnosis and Early Intervention

Commitments 11-22

Having a diagnosis is recognised as a key priority for those living with a rare disease. An early diagnosis provides more opportunity for early intervention. In addition, relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis.

On average, rare disease patients wait four years to receive a diagnosis with some waiting over 20 years. The term ‘diagnostic odyssey’ refers to the time taken between a patient first developing symptoms and receiving a correct medical diagnosis. For people living with a rare condition this is often a long and eventful journey, frequently with several misdiagnoses until a final, correct diagnosis is reached. Without a diagnosis it can be impossible to access appropriate care and treatment, and without intervention a patient’s health can significantly deteriorate.

A diagnosis can bring answers to long-standing questions, providing a better understanding of what the future may hold, such as how the condition may progress. A genetic diagnosis allows couples to exercise reproductive choices if they wish to. Receiving a diagnosis may also offer hope, as it can often be the first step towards a treatment or, in some cases, a cure. Areas of progress in this area are set out below.

3.1 CARDRISS Project

Through the work of the Rare Disease Strategic Oversight Group, in 2018, the Scottish Government commissioned NHS National Services Scotland, Information Services Division (ISD), to establish a congenital anomalies register in Scotland. This is one of the flagship programmes coming out of the rare disease implementation plan.

This would go on to be known as CARDRISS – the Congenital Anomalies and Rare Diseases Registration and Information Service for Scotland. On 1 April 2020, ISD became part of Scotland’s new national public health agency, Public Health Scotland (PHS). The work to establish CARDRISS is therefore now being taken forward by PHS.

In the first instance, CARDRISS will register babies affected by a major structural or chromosomal anomaly or recognised syndrome in line with the standards recommended by the European Registry of Congenital Anomalies and Twins (EUROCAT), a European network of congenital anomalies registers. Live born babies diagnosed within the first year of life; spontaneous stillbirths occurring at ≥24 weeks gestation; spontaneous late fetal losses occurring at 20-23 weeks gestation; and pregnancies terminated at any gestation due to an included anomaly will all be registered. In due course, when registration of major anomalies is securely established, the plan will then be to widen the remit of CARDRISS to include registration of other rare diseases. This will help inform the planning of services for individuals and families affected by congenital anomalies and rare diseases. It will also allow NHS Scotland to support the prevention of anomalies where possible, understand the impact of antenatal screening and support research into these conditions.

Further details on establishing CARDRISS, the intended registration process and the benefits of the project are available in the ‘Congenital anomalies in Scotland’ report, published in November 2019.

To date, the following progress has been made towards establishing CARDRISS:

  • Agreed the specific data items to be captured on cases registered through CARDRISS, following consultation.
  • Work is continuing on specifying the new IT system that will be required for CARDRISS. This has involved running a data collection pilot and assessing the existing PHS cancer registration system to help inform the specification of detailed IT build requirements. Building the IT system has unfortunately been delayed due to the COVID-19 pandemic.
  • The CARDRISS project team has visited all trisomy screening and genetic testing laboratories in Scotland, and developed a proposal for a new national data return from the labs to PHS. This new data would strengthen the ascertainment of babies affected by anomalies with a genetic basis, and would provide additional information on how affected babies had been diagnosed, for example as a result of antenatal screening or not.
  • Creation of a new national dataset on babies affected by anomalies (now extended to cover pregnancies ending in 2000 to 2018) which led to the first annual publication of data for congenital anomalies in Scotland.
  • Achieved affiliate membership of EUROCAT with a plan in place to upgrade this to associate and then – once CARDRISS is in place – full membership.
  • An Expert Advisory Group has been established to provide advice, and constructive challenge, to the CARDRISS project team to support strategic planning, implementation, and ongoing development of the service.

Other areas of work that will be completed during the ongoing project include:

  • Further development of the CARDRISS IT system.
  • Development of information materials on CARDRISS for affected families, professionals, and the general public.
  • Securing the information governance approvals required to begin registration.
  • Testing a new national data return on trisomy screening and genetic testing from laboratories to PHS, then establishing a regular data return process.

At the beginning of the project the plan had been that CARDRISS would prospectively register affected pregnancies ending in 2021 onwards. However, work on the CARDRISS IT system has been delayed by COVID-19 which means that it is now more likely that registration will begin in 2022.

Establishing a congenital anomalies linked dataset

The establishment of CARDRISS will fill a key gap in national population health data by enabling the registration of babies in Scotland who are affected by congenital anomalies. However, as the development is a multi-year project, there was also consideration of what could be done to help to fill the gap until the register was in place.

While there had been previous work in this area it was quickly established that there were no available estimates of anomaly occurrence in Scotland for pregnancies ending in 2012 onwards. It was therefore decided to develop a national dataset on babies affected by anomalies by linking data from existing national records, use this dataset to produce the best possible estimates of anomaly occurrence in Scotland for pregnancies ending in Scotland from 2012 to 2017 inclusive and then publish this analysis.

In addition to addressing the data gap, the records included within the linked dataset would also demonstrate the minimum level of case ascertainment that would be achieved by CARDRISS (i.e. the number of cases that can be ascertained from existing national records alone, without additional input from local data sources or direct notification of cases by clinicians).

The linked dataset was therefore created using the same criteria that will initially be used to identify cases that will be registerable by CARDRISS, i.e. babies affected by a major structural or chromosomal anomaly or recognised syndrome.

The resulting publication of ‘Congenital anomalies in Scotland, 2012 to 2017’ was released on 26 November 2019. Full details of the methods used in the linked data analysis were also provided in a technical report which was released alongside the publication report.

Following on from this publication the linked dataset was then extended back to the year 2000 using the same criteria. The second annual publication in October 2020 presented estimates of anomaly occurrence in Scotland for pregnancies ending in Scotland from 2000 to 2018 inclusive.

3.2 Ultra Orphan Pathway

In response to the 2016 Montgomery Review findings, the Scottish Government developed the ultra-orphan pathway in 2019. This is designed to allow patients with very rare diseases faster access to new treatments following a revised decision making process.

To date, the Scottish Medical Council (SMC) has carried out initial assessment of four ultra-orphan medicines:

  • voretigene neparvovec (Luxturna) for the treatment of adult and paediatric patients with vision loss due to inherited retinal dystrophy.
  • burosumab (Crysvita) for the treatment of X-linked hypophosphataemia (XLH) with radiographic evidence of bone disease in children 1 year of age and older and adolescents with growing skeletons.
  • volanesorsen sodium (Waylivra) as an adjunct to diet in adult patients with genetically confirmed familial chylomicronaemia syndrome (FCS).
  • nusinersen (Spinraza) for the treatment of Spinal Muscular Atrophy (SMA) type 2 and 3.

Together with the scientific evidence provided by submitting companies, the views and experiences of patients, families and carers play an important role in the assessment of ultra-orphan medicines by the SMC. In addition, powerful statements and quotes provided by patient groups who participate in medicine assessments, provide committee members with a unique insight into living with rare conditions and the potential benefit of new medicines, not only on the quality of life for patients, but also for their families and carers.

Patients with XLH, for which the medicine burosumab (Crysvita) was assessed, describe the condition as having a profound effect on their daily living and quality of life.

Parent of child with XLH

“At 3 years old he (child) was walking with his feet inwards. He could only walk a short distance without pain. This was getting worse until he started this new treatment. Since then, he has improved month on month. The results are amazing so far. Virtually all of the bowing in his legs has reversed. His legs have straightened up and he has gone from having an obvious disability to looking like any other 4 year old.”

To further support access for treatments for very rare diseases, in April 2020 the Scottish Board Chief Executives agreed to set up a new risk sharing scheme hosted by NHS Service Scotland National Services Division, to cover the cost of new drugs approved through the new ultra orphan pathway mechanism.

The risk share scheme pools funds from all Scotland’s health boards for a small number of approved medicines for very rare diseases.

3.3 National Network Management Service – NNMS (National Managed Clinical and Diagnostic Networks)

All National Managed Clinical Networks (NMCNs) are designated through National Commissioning by NHS National Services Scotland on behalf of NHS Boards and the Scottish Government. They provide high quality management and operation support to enable them to focus on adding value to healthcare in Scotland through better access to specialist care.

They help ensure patients across Scotland have the best possible access to high quality specialist care. They bring together everyone involved in providing care when the full range of skills required isn’t available within a single health board or region – this includes health professionals, carers, patient families and voluntary groups.

The diagnostic networks support early diagnosis and intervention by ensuring that patients have the right test at the right time.

List of networks

Launch of the Scottish Systemic Vasculitis Network in 2019

One of the key successes since the last progress report in 2018 includes the launch of the Scottish Systemic Vasculitis Network. Systemic Vasculitis is a collective term for a number of individually rare diseases that can affect many organ systems.

In the first year, focus has been through wide-ranging stakeholder engagement, establishment of a Steering Group and 3 sub-groups to look at:

  • Information, education and communication.
  • Research, data and audit.
  • Clinical care.

Key priorities going forward include:

  • Delivering a programme of education based on identified stakeholder needs.
  • Development of pathways and guidelines including for Behcet’s.
  • Identifying service improvement projects based on emerging outcome data.
  • Increase awareness and participation in research.

3.4 Services provided by NHS England and Cross Border Guidance for Clinicians

National Services Division (NSD) manages the process by which consultants in Scotland can access national funding to refer patients to specialist and highly specialist healthcare which is not available in Scotland. This is of particular importance to patients with very rare diseases, where there may be a limited number of expert clinicians in the UK able to offer diagnosis and advice.

NSD have updated the Cross Border Guidance for Clinicians in 2018 in order to improve knowledge of the process and the specialist and highly services to which referrals are funded through this national arrangement.

NSD is currently scoping the introduction of an electronic system to log and manage funding request for referrals to specialist and highly specialist services commissioned by NHS England.


Email: carol-anne.redpath@gov.scot

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