Care coordination research opportunity

COordiNated Care Of Rare Diseases (CONCORD) is a research study which aims to investigate how services are currently coordinated for rare conditions and how they should be coordinated in the future.

The study is funded by the National Institute for Health Research and is being led by researchers at University College London, in collaboration with Genetic Alliance UK and others. They are currently looking for patients, carers and healthcare professionals to share their priorities and views about the coordination of care for rare conditions, via an online survey. The survey will take around 30 minutes to complete. The findings will be used to make recommendations with the aim of influencing policy.

The survey can be accessed at: http://bit.ly/concord-survey

Further information about the study can be found at:

www.geneticalliance.org.uk/our-work/healthcare-and-delivery/coordinated-care-of-rare-diseases-concord/

Further research opportunities

As well as taking part in the RaDaR Rare Disease Registry, we recommend that patients who are interested in research visit the NIHR’s new Be Part of Research website which allows you to search for studies by condition and/or location.

Studies that are being led or endorsed by Clinicians involved in RaDaR are advertised on the Patient Information pages for each condition.

New RaDaR condition – BK Nephropathy

We are pleased to announce that RaDaR is now open to a new condition – BK Nephropathy.

No new approvals are needed to start recruiting these patients.

Detailed instructions on the inclusion criteria and data entry are available to download from https://tinyurl.com/BK-Neph-data or on request from Melanie.Dillon@renalregistry.nhs.uk

Hyperoxaluria research trials

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 Melanie.dillon@renalregistry.nhs.uk

RSM meeting – 8th May

The Royal Society of Medicine (RSM) are hosting an event on Rare diseases and the kidney on the 8th May 2019 at Salford University, Media City Campus. This high quality meeting will bring experts from a wide variety of rare disease areas together to present the latest updates and developments in rare diseases.

The meeting will be of relevance to medical students, trainees and consultants as it provides a unique opportunity to keep up to date with latest clinical developments, opportunities and research being conducted and MDT and patient partnerships for these conditions.

Topics include:

  • Expert overview of a number of rare diseases affecting the kidney
  • Best medical management and potential treatments 
  • Latest research, developments and opportunities for future research using the RaDaR network

Poster