Rare Disease Group
The Hyperoxaluria Rare Disease Group aims to:
- Provide up to date support for patients and their families though links with the Oxalosis and Hyperoxaluria Foundation
- Increase the knowledge and understanding of Primary Hyperoxaluria and Oxalosis in order to improve its clinical management
- Provide clinical information on dialysis and transplantation
- Increase the knowledge of clinical presentation and outcome of Primary Hyperoxaluria by building a comprehensive UK database (RaDaR) that will link with the European OxalEurope database and subsequently with the International Hyperoxaluria Registry
- Foster national and international partnerships to promote scientific innovation and research in Primary Hyperoxaluria and facilitate applications for funding for research collaboration
- Create a forum for UK clinical studies on Primary Hyperoxaluria, including trials with orphan drugs
- Foster genotype studies on Primary Hyperoxaluria
- Co-operate in order to obtain funding for research activities through industrial or public partners in order to facilitate the dissemination of the results deriving from scientific research
Patient Information Day
The second Primary Hyperoxaluria Patient Information Day was held at Birmingham Children’s Hospital on Saturday 28th January 2017. An agenda and feedback report provide further information on the event, which was organised in partnership with the Oxalosis and Hyperoxaluria Foundation.
On Saturday 27th April 2013 the first UK PH Patient Information Day was held at Birmingham Children’s Hospital. Over 60 patients and families from across the UK and Europe attended talks by specialists in both paediatric and adult nephrology and surgery.
Topics covered included the genetics of PH, drug treatments, dialysis and transplantation. We were also delighted to present Kim Hollander, Chief Executive of the Oxalosis and Hyperoxaluria Foundation, who kindly provided funding for the Play Centre to entertain the children during the day.
Copies of the presentations from both events are available here, along with comments from attendees. Clinician Meeting A Primary Hyperoxaluria Clinician Meeting was held at Birmingham Children’s Hospital on Tuesday 3rd March 2015. For more information please click here.
The Hyperoxaluria Rare Disease Group (RDG) is working with international partners with the aim of finding new and improved treatments, and to empower patients. A first step is to compare the symptoms and genetic markers of PH. To do this the RDG is registering patients with this condition into two research registries. The first is the UK-based National Renal Rare Disease Registry (RaDaR) which will be used to find suitable participants for future research trials into the effectiveness of new treatments.
The second is the International Hyperoxaluria Registry run by Oxal Europe, the European Hyperoxaluria Consortium, which aims to compile a global registry of Hyperoxaluria patients. Patient information in both registries is anonymous and cannot be linked to individuals.
There are trials for adult patients with primary hyperoxaluria types 1, 2 & 3 and enteric hyperoxaluria, which are all recruiting or about to start. Here are the key inclusion criteria:
- Adult patient with PH1: eGFR>45 and 24h U Oxalate >700 umol/24h
- Adult patient with PH1 or 2: eGFR>30 and 24h U Oxalate >600 umol/24h
- Adult patient with PH1,2 or 3: eGFR between 15 and 90 and relatively high urine oxalate (likely to give plasma oxalate>10 umol/l but it is not necessary to measure this)
- Adult with enteric hyperoxaluria: eGFR>30 and 24h U Oxalate >550 umol/24h
These are with investigational products from Alnylam, Dicerna, Oxthera and Allena respectively.
Enquiries will be directed to the units conducting these trials. We are also happy to see patients as a one-off or on-going or just discuss details of these trials with patients or clinicians. If you are a patient or relative of someone with one of these conditions, please ask your doctor about these trials, or contact RaDaR
Grant applications were submitted for an OxalEurope European Hyperoxaluria Registry to be established and to link with the established USA Rare Stone Disease registry. These proposals have been supported by the Oxalosis and Hyperoxaluria Foundation (OHF) with the aim of establishing an International Hyperoxaluria Registry.
The Hyperoxaluria RDG works closely with the Oxalosis and Hyperoxaluria Foundation, led by Kim Hollander. Please visit their site for research updates and details of international patient meetings.
- Dr Sally-Anne Hulton, Consultant Paediatric Nephrologist, Birmingham Children’s Hospital
- Neville Jamieson, Addenbrooke’s Hospital, Cambridge
- Dr Graham Lipkin, Renal Medicine Unit, University Hospital, Birmingham
- Neil Marklew, Patient Representative
- Dr Shabbir Moochalla, Centre for Nephrology, Royal Free Hospital, London RDG Lead
- Daron Smith, University College London Hospital
- Michelle Smith, Queen Elizabeth Hospital, Birmingham
- Gary Woodward, University College London Hospital Hyperoxaluria Labaratory Service
Sally Hulton has received travel and accommodation fees from the OHF to attend international Hyperoxaluria Registry Meetings.