Arms
: Alport Syndrome Rare Disease Group
The evidence base in Alport Syndrome is small, but there is a very important education
gap which it is the group's priority.
Our first priorities are to assemble and make available clear information for clinicians
caring for patients, as well as for patients themselves including making it clear for
Commissioners 'Who should be tested' establish contact details for advice on specific
issues make it clear how to approach the group for clinical advice and how to enrol
patients in the group.
In time this may lead to specialised regional clinics, made possible by recruiting more
interested clinicians as the project develops.
: APRT Deficiency Rare Disease Group
Aims:
1. To collect clinical data on patients with APRT Deficiency in a Registry. This will
allow us to:
study the causes, natural history and outcome of the condition develop patient
cohorts for future studies
2. To collect biological samples for future studies in a Biobank. This will allow us
to:
identify factors influencing the course of APRT Deficiency determine the role of
various genes
3. To develop new methods to measure urinary purine excretion. This will improve tools
that allow us to:
study the effectiveness of pharmacological and dietary interventions identify
factors influencing the course of the condition
4. To work with patient organisations, health care professionals and researchers:
to enhance the education and training aspect of this project to develop strategies to
increase the awareness and early detection of APRT Deficiency and improve patient
outcomes.
: ARPKD & NPHP Rare Disease Group
Aims:
The Autosomal Recessive Polycystic Kidney Disease (ARPKD)/Nephronophthisis (NPHP) Rare
Disease Group (RDG) aims to:
Develop and advocate best practice guidelines for the treatment of ARPKD and NPHP Provide
up-to-date, best practice patient information and group support Support research into
basic science, genetic, translational, psychosocial and clinical aspects of ARPKD and
NPHP Foster collaborations with European and international groups and partner
: Atypical Haemolytic Uraemic Syndrome Rare Disease Group
Aims:
To establish and maintain a registry of all individuals affected by aHUS in the UK To
provide information to clinicians on the investigation and management of aHUS To provide
information to affected individuals and their families on aHUS To facilitate
collaborative research into all aspects of aHUS
: Autosomal Dominant Polycystic Kidney Disease Rare Disease Group
Aims:
To develop the ADPKD RaDaR registry To develop best practice guidelines in regards to the
treatment of ADPKD To provide better patient information and support To develop
international collaborations to enable the above aims To support research, in
collaboration with international groups, into basic science, disease progression models
and clinical trials
: Autosomal Dominant Tubulointerstitial Kidney Disease Rare Disease Group
The group was established as part of the RaDaR initiative, in light of the increasing
numbers of families being identified with this syndrome and following the pioneering work
undertaken by Dr Anne Simmonds and others in the Purine Laboratory at Guy's Hospital,
London.
: BK Nephropathy Rare Disease Group
The BK Nephropathy (BKN) Rare Disease Group aims to:
collate contemporary information from UK kidney transplant recipients with BK Nephropathy
use this information to develop current and relevant information for patients disseminate
this information to the renal and transplant communities establish a national consensus
to identify recipients at high risk of developing BK Nephropathy develop a recommendation
for the optimal screening frequency for the presence of BK viraemia by PCR of peripheral
blood produce guidance on the modification of immunosuppressive regimens and use of
additional agents to treat BK Nephropathy develop a strategy for patient recruitment to
observational and interventional clinical trials
: Calciphylaxis rare Disease Group
The Calciphylaxis Rare Disease Group aims to:
Develop a comprehensive clinical database of Calciphylaxis patients via the RaDaR Rare
Disease Registry Collaborate with international registries, particularly the German
registry Form an expert panel of interested clinicians to review future clinical trials
and research programmes Develop diagnostic and treatment algorithms
: CKD due to Genetic Factors in people of African ancestry Rare Disease Group
People of African or Afro-Caribbean ancestry are five times more likely to have kidney
disease. They also develop kidney failure when they are about ten years younger than
white people. The connection between ethnicity and kidney disease is complex. There have
been some new scientific discoveries which may help us to begin to understand the cause
of this problem and develop treatments, but much more work is needed.
This group will allow us to find lots of people with African or Afro-Caribbean ancestry
with CKD living in the UK that can take part in research.
: Cystinosis Rare Disease Group
Aims:
To improve the care for all patients with cystinosis in the UK To collaborate with the
National Designation Centres for Cystinosis To work together with Cystinosis Foundation
UK and other patient groups To register every willing patient with cystinosis onto RaDaR
To promote research for the benefit of patients with cystinosis, and their families To
promote educational resources for patients with cystinosis, and their families
: Cystinuria Rare Disease Group
To improve our understanding of kidney stone formation in Cystinuria, develop best
practice in the care of patients with this condition and to develop new ways to prevent
and treat Cystinuria.
: Dent Disease & Lowe Syndrome Rare Disease Group
The group aims to advance our knowledge of Dent Disease and Lowe Syndrome by:
establishing a registry of patients developing clinical guidelines regarding diagnosis
and treatment providing a platform for clinical and molecular research into these
disorders empowering affected patients and their families by facilitating contacts
between patient/families and by the development of educational material
: Fabry Disease Rare Disease Group
The main objectives of the Fabry Disease Rare Disease Group are to:
Provide reliable information for patients and relatives regarding the condition Provide
referral information for clinicians, including details about where to send samples
Improve referral pathways between the relevant specialties in each geographical area e.g.
cardiology and nephrology Design and implement studies to determine the burden of
undiagnosed disease and make testing for Fabry more accessible nationwide Organise
patient information days to promote face-to-face contact between clinicians and
patients/families
: Fibromuscular Dysplasia Rare Disease Group
The main objectives of the Fibromuscular Dysplasia Rare Disease Group are to:
Raise awareness and provide advice about the best strategy for the diagnosis and
management of this still underdiagnosed disease.
Study the presentation of the disease and baseline patient demographics. Study the
prevalence of different subtypes of Fibromuscular Dysplasia, the incidence and
determinants of disease progression/extension and complications Develop a Register of
long term impact of intervention, as part of RaDaR
: Haemolytic Uraemic Syndrome Rare Disease Group
1. To identify key issues and challenges facing the field of Haemolytic Uraemic
Syndrome, specifically in the development of an informatics framework within the UK
2. To stimulate and encourage industry partnerships.
3. To identify the needs and priorities for basic, clinical, translational and social
research
4. To identify suitable funding opportunities and help support appropriate strategies
for successful applications.
: Hepatic Nuclear Factor 1B Mutation Rare Disease Group
The HNF1B rare disease group (RDG) covers all diseases associated with mutations and
deletions in this gene. These include renal developmental disorders, most commonly renal
cysts. The most common problem outside the kidneys is diabetes. When diabetes and renal
cysts occur together this is known as the renal cysts and diabetes (RCAD) syndrome. Other
clinical features may include hyperuricaemia and gout, hypomagnesaemia, abnormal liver
function tests, pancreatic exocrine deficiency and genital tract malformations.
We aim to increase clincians' awareness of these presentations, improve recognition and
streamline diagnosis, particularly at a genetic level. To do this we are studying genetic
information on patients with well-defined clinical features. We hold open meetings to
inform and support patients and their families.
: Hyperoxaluria Rare Disease Group
The Hyperoxaluria Rare Disease Group aims to:
The Hyperoxaluria Rare Disease Group aims to:
Provide up to date support for patients and their families. Increase the knowledge and
understanding of Primary Hyperoxaluria and Oxalosis to improve its clinical management.
Provide clinical information on dialysis and transplantation. Increase the knowledge of
clinical presentation and outcome of Primary Hyperoxaluria.
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.'
: IgA Nephropathy Rare Disease Group
The IgA Nephropathy (IgAN) Rare Disease Group aims to:
collate avaliable information on IgAN and develop new information for both patients and
carers implement a communications strategy for the wider renal community about all
aspects of the RDG's work programme develop a strategy for patient recruitment to
clinical trials in IgAN
: Inherited Renal Cancer Syndromes Rare Disease Group
The development of evidence based clinical care pathways in inherited RCC has been
identified as a priority owing to the lack of fully commissioned screening programmes
nationally. Several published expert led disease management guidelines are being
evaluated. Therefore the familial RCC RDG will set as a priority the development and
validation of evidence based care pathways that reflect both national and international
opinion and can be adopted by NHS commissioning groups.
The familial RDG will work closely with other RDGs, the Renal Registry and the Renal
Association to produce advice for commissioners that relate to specific aspects of these
diseases as well as more general advice that relates to rare diseases, CKD and renal
replacement therapy.
: Lupus Nephritis Rare Disease Group
: Membranous Nephropathy Rare Disease Group
Aims:
1. To develop evidence based clinical care pathways. Current treatment for Membranous
Nephropathy (MN) is based on knowledge and drugs available in the 1990's.
2. To empower and inform patients and families.
3. To audit clinical outcomes:
Establish a registry of biopsy proven prevalent cases and new incident cases of both
primary and secondary MN starting from Jan 2013. In total we seek to capture data on
2000 patients during the next 5 years with a minimum of one complete data return per
patient per year.
4. To promote and develop research.
: Mitochondrial disease affecting the kidney Rare Disease Group
This group is to promote the recognition of patients with mitochondrial disease affecting
the kidney.
: Monoclonal Gammopathy of Renal Significance Rare Disease Group
To promote the RaDaR registration of patients affected by Monoclonal Gammopathy of Renal
Significance (MGRS) To develop standard operating procedures in regards to the treatment
of Paraprotein Associated Kidney Diseases To provide better patient information and
support To support research, in collaboration with international groups, into basic
science, disease progression models and clinical trials
: MPGN, DDD & C3 Glomerulopathy Rare Disease Group
To bring together clinicians, scientists and consumers for the purposes of:
Undertaking clinical research into the causes of and treatment for MPGN and C3
glomerulopathies Promoting best clinical practice for patients with MPGN and C3
glomerulopathies Facilitating support for patients and families affected by MPGN and C3
glomerulopathies
: Nephrotic Syndrome Rare Disease Group
To compile a comprehensive UK registry of childhood and adult Nephrotic Syndrome, which
includes detailed clinical information, laboratory results and genetic testing
information where available. The information will be available to the patients/parents,
their clinicians, and, in an anonymised form, to the Nephrotic Syndrome Rare Disease
Group for research purposes.
To investigate the underlying cause of Nephrotic Syndrome by comprehensive genetic
testing of all patients (with full informed consent), and the study of patient plasma for
biomarkers of disease To inform patients about the latest research and educational
advances regarding the disease To put patients in touch with recognised support groups
and charities To develop treatment and investigation guidelines for clinicians and
patients To enable clinical trials to be designed and carried out to further management
of the disease
: Pregnancy and Chronic Kidney Disease Rare Disease Group
Increasing numbers of women with chronic kidney disease (CKD) are thinking about
pregnancy. It has been known for over 50 years that CKD can affect how a pregnancy
progresses and that a pregnancy can have a negative effect on damaged kidneys. However,
outcomes have been improving decade by decade.
The group will develop care pathways for women with CKD throughout pregnancy.
Specific areas of research interest include:
What is the best blood pressure target during pregnancy for women with CKD? Is
preconception counselling for women with CKD useful? How should we prevent blood clots
during pregnancy in women with CKD? What is the effect of protein loss in the urine on
pregnancies? Which women with CKD are most likely to develop pre-eclampsia? What is the
best way to measure kidney function in pregnant women with CKD? What happens to mothers
with CKD and their babies after pregnancy?
: Pure Red Cell Aplasia Rare Disease Group
To increase awareness of Pure Red Cell Aplasia (PRCA). To streamline the diagnostic
process. To investigate and implement measures to reduce the incidence of the disease. To
empower affected patients in seeking help and support. To establish international
collaborations to promote research into the causes and management of the disease.
: Retroperitoneal Fibrosis Rare Disease Group
The Retroperitoneal Fibrosis (RPF) Rare Disease Group aims to:
establish a registry of patient data and biological samples (plasma, urine, biopsy
tissue) collate available information on RPF and develop new information for both
patients and carers improve upon observational data in terms of the presentation, natural
history and outcomes in RPF patients nationally develop multi-disciplinary consensus care
pathways and clinical guidelines for RPF develop a strategy for patient recruitment to
trials
: Tuberous Sclerosis Rare Disease Group
There are a number of unanswered questions relating to Tuberous Sclerosis Complex (TSC),
which the RDG hopes to be able to address:
What is the frequency and severity of renal involvement in patients with TSC,
particularly as they grow older? What is the frequency of multiple renal AMLs in
individuals without other features of TSC? What is the frequency of renal impairment or
renal haemorrhage in patients with renal AMLs, and how does this relate the lesion size,
number and distribution? What is the frequency of bleeding or renal impairment in
patients with multiple renal AMLS treated with mTOR inhibitors or other interventions?
What is the frequency of impaired GFR (CKD stage 2 or higher), and what are the causes?
What is the efficacy of treatment of renal AMLs in preventing bleeding and preserving
GFR? What are the optional treatment regimes with mTOR inhibitors?
: Tubulopathy Rare Disease Group
The newly renamed Tubulopathy Rare Disease Group, previously known as Hypokalaemic
Alkaloses, has recently expanded it's inclusion criteria for RaDaR to include a large
number of conditions.
: Vasculitis Rare Disease Group
The Vasculitis Rare Disease Group has developed from the UK and Ireland Vasculitis
registry initiative UKIVAS. The group members represent Vasculitis units across the UK
and participate in Vasculitis research and care.
We have a number of aims:
To promote collaboration and sharing of expertise and resources in clinical research
To develop guidelines for the management of Vasculitis
To develop a nationwide registry of anonymized demographic, treatment and outcome data
for patients with Vasculitis in the UK and Ireland
To develop high quality patient and clinician information via the Rare Renal and
Vasculitis UK websites
To link with interested patient groups, research collaborations and industry.
Interventions
