Clinical trial NCT06065852: National Registry of Rare Kidney Diseases
Official title: National Registry of Rare Kidney Diseases (RaDaR)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Adenine Phosphoribosyltransferase Deficiency
AH Amyloidosis
AHL Amyloidosis
AL Amyloidosis
Alport Syndrome
Atypical Hemolytic Uremic Syndrome
Autoimmune Distal Renal Tubular Acidosis
Autosomal Recessive Proximal Renal Tubular Acidosis
Autosomal Recessive Distal Renal Tubular Acidosis
Autosomal Dominant Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease
Bartter Syndrome
BK Nephropathy
C3 Glomerulopathy With Monoclonal Gammopathy
C3 Glomerulopathy
Calciphylaxis
Crystalglobulinaemia
Crystal-storing Histiocytosis
Cystinosis
Cystinuria
Dense Deposit Disease
Dent Disease
Denys-Drash Syndrome
Dominant Hypophosphataemia With Nephrolithiasis and/or Osteoporosis
Drug Induced Fanconi Syndrome
Drug-Induced Hypomagnesemia
Drug-Induced Nephrogenic Diabetes Insipidus
Epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy
Fabry Disease
Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis
Familial Primary Hypomagnesemia With Hypocalcuria
Familial Primary Hypomagnesaemia With Normocalciuria
Familial Renal Glucosuria
Fanconi Renotubular Syndrome 1
Fanconi Renotubular Syndrome 2
Fanconi Renotubular Syndrome 3
Fibrillary Glomerulonephritis
Fibromuscular Dysplasia
Focal Segmental Glomerulosclerosis
Generalised Pseudohypoaldosteronism Type 1
Gitelman Syndrome
Heavy-Metal-Induced Fanconi Syndrome
Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes
Hereditary Renal Hypouricemia
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperuricaemic Nephropathy
IgA Nephropathy
Immunotactoid Glomerulonephritis With Organised Microtubular Mononoclonal Immunoglobulin Deposits
Inherited Renal Cancer Syndromes
Intracapillary Monoclonal IgM Without Cryoglobulin
Intraglomerular/Capillary Lymphoma/Leukaemia
Isolated Autosomal Dominant Hypomagnesaemia Glaudemans Type
Liddle Syndrome
Light Chain Cast Nephropathy
Light Chain Proximal Tubulopathy Without Crystals
Light Chain Proximal Tubulopathy With Crystals
Lowe Syndrome
Membranous Nephropathy
Membranoproliferative Glomerulonephritis
Medullary Cystic Kidney Disease
Minimal Change Nephropathy
Mitochondrial Disease Of The Kidney
Monoclonal Immunoglobulin Deposition Disease
Nail Patella Syndrome
Nephrogenic Diabetes Insipidus
Nephrogenic Syndrome of Inappropriate Antidiuresis
Nephronophthisis
Primary Hypomagnesemia With Secondary Hypocalcemia
Primary Hyperoxaluria
Proliferative Glomerulonephritis With Monoclonal IgG Deposits
Proximal Tubulopathy Without Crystals
Pseudohypoaldosteronism Type 1, 2A-2E
Pure Red Cell Aplasia
Retroperitoneal Fibrosis
Sickle Cell Nephropathy
Shiga Toxin Associated Haemolytic Uraemic Syndrome
Steroid Resistant Nephrotic Syndrome
Steroid-Sensitive Nephrotic Syndrome
Thin Basement Membrane Nephropathy
Thrombotic Microangiopathy With Monoclonal Gammopathy
Type 1 Cryoglobulinaemic Glomerulonephritis
Tuberous Sclerosis
Unclassified Monoclonal Gammopathy Of Renal Significance
Vasculitis
Lead sponsor: UK Kidney Association
Sponsor class: OTHER
First posted: 2023-10-04
Enrollment: 35000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Varies for each Rare Disease Group

Brief summary: The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.

The purpose of this research is to:

* Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition.
* Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better.
* Further the development of future treatments.

Participants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.

Detailed description: Background

Rare diseases are arbitrarily defined as having an incidence such that they cannot be studied effectively on patient groups drawn from one or a few medical centres.

A high proportion of such disorders have a genetic background and often these diseases are first expressed in childhood. The success of chronic and end-stage renal failure programmes in childhood permit increased numbers of these patients to survive into adulthood. There are 13 centres for paediatric nephrology in the UK. For a rare disorder that a paediatric nephrologist might diagnosis only once a year, and assuming 100% survival to adulthood, a renal physician might be asked to take over such a case only once in seven or eight years of practice. Research is hampered by this dilution of clinical experience. Similarly in adult practice there are rare complications of diseases or their treatment so that a nephrologist might encounter such an event less often than once in every 5 years. National aggregation of clinical experience is essential to further study.

Research groups investigating a rare disease (Rare Disease Groups, RDGs) have difficulty accessing patients who are widely distributed. While rare disease groups are often successful in identifying novel genotypes in a few individuals, it is more difficult to define phenotype and undertake phenotype-genotype correlations. Moreover, the scarcity of patients makes it difficult to develop biomarkers or identify well-defined cohorts in which to test novel treatments. As a result, the progression and outcome for many rare diseases are unknown and treatment remains underdeveloped.

Purpose

The purpose of the National Registry of Rare Kidney Diseases (RaDaR; rare disease registry) is to facilitate translational and epidemiological research into rare kidney diseases by setting up and maintaining a comprehensive clinical database in partnership with Rare Disease Groups.

RaDaR facilitates the identification of well-characterized cohorts of patients who may be invited to participate in clinical trials, the development of biomarkers, phenotype-genotype correlations or outcome studies. This will inform the development of clinical guidelines for specific rare diseases, audit treatment and outcome and further the development of future therapies.

RaDaR provides an infrastructure to capture both generic and disease-specific clinical information and to collate longitudinal information. Patients and clinicians can view information about the conditions covered by RaDaR on RareRenal.org, which links closely with RaDaR.

RaDaR is predominately aimed at UK patients; however international recruits who are consented in the UK by an NHS hospital are also eligible, subject to local approval.

Eligibility criteria: * Kidney Rare Disease
* Paeds and adults
* Eligibility differs for each rare disease group
* See: https://ukkidney.org/rare-renal/recruitment

Primary outcomes:
measure: Facilitate translational and epidemiological research
timeFrame: 2009-2039
Secondary outcomes:
Other outcomes:
Locations:
city: Bristol
country: United Kingdom
facility: Zoe Plummer
state: South West
Study officials:
References: