Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease and the fourth leading cause of kidney failure. Despite this, there are currently no approved therapies,  formal care pathways or established clinical guidelines for the management of ADPKD adopted in Europe. An international group of ADPKD experts and patient advocates has now formed the European ADPKD Forum (EAF) — the first body aiming specifically to inform health policy development and improve the health and quality of life of people with this under-recognised condition, write Tess Harris and Dr Richard Sandford.

ADPKD is a progressive disease characterised by the development and expansion of fluid-filled sacs (or cysts) in the kidney and other organs, most commonly the liver. The course of the disease varies between individuals, but typically gross enlargement of the kidneys occurs, accompanied by pain, hypertension, bleeding and infections. Patients may experience a diminished and sometimes impoverished quality of life and are at risk of premature death. Ultimately, ADPKD leads to kidney failure in the majority of affected people at an average age of 58 years. According to new data, one in ten patients needing a kidney transplant or dialysis has a diagnosis of ADPKD and the provision of these services for patients with ADPKD costs Euro 1.5 billion across all countries in the European Union. Therefore, ADPKD represents a significant clinical and economic challenge to healthcare professionals and services throughout Europe.

Current unmet needs in ADPKD at a European level are numerous and include:

• A lack of awareness and recognition of the importance of ADPKD among many stakeholders involved in the organisation and delivery of patient care
• A lack of awareness or understanding of ADPKD among the public, which can limit early diagnosis (with the opportunity for treatment of complications such as hypertension), healthcare consultation and adherence to therapy
• A lack of formal care pathways and clinical guidelines, which – together with a lack of awareness of the condition – results in variations and inequities in ADPKD care
• A lack of treatment options to slow disease progression, delay the need for dialysis and transplantation, maintain patients’ quality of life and extend life expectancy.

The EAF aims to help address these issues by translating evidence and science into policy focussed recommendations on the changes needed to improve the development and delivery of care for patients with ADPKD. The multidisciplinary, international faculty comprises leading patient advocates together with practitioners and researchers from the fields of nephrology, hepatology and genetics. The EAF Faculty is currently developing a policy report targeted at European Union policymakers in order to:

• Raise awareness of ADPKD and its burden on patients, health services and economies in Europe
• Recommend strategies to improve ADPKD care within the context of health policy development at the European and national levels.
• Encourage and facilitate collaboration between the individuals and groups involved in the management of people with ADPKD, including health policy-makers, healthcare providers, payers, patients, care-givers and industry.

The Report will be based on the latest scientific knowledge about ADPKD, including important new data from European and national registries, together with insights from the faculty. It will also feature results from a recent large survey of patients with the condition across Europe. Indeed, the patient experience and the empowerment of patients within efforts to improve ADPKD care, are at the heart of the EAF initiative.

The EAF report will complement the forthcoming 2014 Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference Report that will assess the current knowledge base regarding ADPKD, and in which most of the EAF Faculty members participated. Aiming toward the harmonisation and standardisation of ADPKD care, the KDIGO Report will summarise the global knowledge gaps and propose a research agenda to resolve controversial issues. The EAF will also work in concert with major professional and patient societies in the relevant fields.

A policy-focussed launch of the EAF report is anticipated to take place by the end of 2014. We hope that it will be instrumental in informing the many European policy streams relevant to ADPKD and ultimately to improving the lives of patients and their families.

Tess Harris and Dr Richard Sandford co-chair the EAF. Tess Harris is the President of PKD International, a non-profit, global alliance of patient organisations based in Geneva, Switzerland. Dr Richard Sandford is Consultant Clinical Geneticist at Addenbrook’s Hospital, Cambridge, UK. The EAF is currently supported by Otsuka Pharmaceutical Europe, Ltd. However, neither the co-chairs of the EAF, nor the faculty members, receive fees in respect of their roles in the initiative and the opinions in the EAF report will be those of the authors and not the sponsors.