Many people diagnosed with alkaptonuria (AKU), have difficulty accessing efficient and effective care to treat their AKU. For some, there has been a lack of local expertise and knowledge when dealing with such a rare disease, resulting in the failure to detect complications of AKU and an inability to make appropriate treatments available.
The Robert Gregory National Alkaptonuria Centre exists to change this. It is needed to ensure that everyone with AKU has access to a knowledgeable team of specialists who can manage their care efficiently.
The National AKU Centre was established by the Department of Health (National Specialised Services Commissioning Group) and opened to patients on 18th June 2012. The service was set up to provide assessments and treatment for people with AKU and is based at The Royal Liverpool University Hospital. It is a free NHS service open to anyone over the age of 16 who has been diagnosed with AKU and living in England or Scotland.
Patients who attend the National AKU Centre will receive:
- A full health assessment and treatment of AKU
- Access to the drug nitisinone
- Advice on living with and managing the disease.
Once a diagnosis of AKU has been confirmed a GP or other relevant medical professional can make a referral to the National Centre. Diagnosis is confirmed by measuring the homogentisic acid levels in a blood or urine test. The referral is assessed by the team in Liverpool and the person is then invited to attend the National Centre.
The National AKU Centre can accommodate up to five patients per month and anyone attending is expected to return for review on an annual basis at the same time each year. The average stay at the Centre is three to four days.
Wales has its own referral process for accessing the NAC. In the first instance, a GP or relevant physician must follow the appropriate clinical gateway. For AKU, a person has to be referred to the Clinical Gatekeeper based at Cardiff University Hospital. He will determine whether the specialist services needed to meet an individual’s needs is available in Wales. If it is deemed that such services are not available a referral to the NAC is agreed and the Gatekeeper will apply to the Welsh Health Specialised Services Committee for funding. If funding is agreed, the Gatekeeper can make a direct referral to the NAC.
Nitisinone is a drug currently licensed for another rare disease and it is thought to be effective in treating patients with AKU. All English and Scottish patients who attend the National AKU Centre are given access to nitisinone. At this time funding for patients in Wales and Northern Ireland is not available for accessing nitisinone.