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Recruiting

NCT Number: NCT06065852

National Registry of Rare Kidney Diseases

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.

Recruiting

Interested in participating?

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Key information

Conditions

Adenine Phosphoribosyltransferase Deficiency AH Amyloidosis AHL Amyloidosis AL Amyloidosis Abnormalities, Multiple Adrenal Gland Diseases Adrenocortical Hyperfunction Alport Syndrome Amino Acid Transport Disorders, Inborn Amyloidosis Anemia Anemia, Hemolytic Arterial Occlusive Diseases Atypical Hemolytic Uremic Syndrome Autoimmune Diseases Autoimmune Distal Renal Tubular Acidosis Autosomal Dominant Polycystic Kidney Disease Autosomal Recessive Distal Renal Tubular Acidosis Autosomal Recessive Polycystic Kidney Disease Autosomal Recessive Proximal Renal Tubular Acidosis BK Nephropathy Bartter Syndrome Blood Platelet Disorders Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn C3 Glomerulopathy C3 Glomerulopathy With Monoclonal Gammopathy Calcinosis Calciphylaxis Calcium Metabolism Disorders Carbohydrate Metabolism, Inborn Errors Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Ciliopathies Collagen Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Crystal-storing Histiocytosis Crystalglobulinaemia Cystinosis Cystinuria Cytopenia Dense Deposit Disease Dent Disease Denys-Drash Syndrome Diabetes Insipidus Diabetes Insipidus, Nephrogenic Disorder of Sex Development, 46,XY Disorders of Sex Development Dominant Hypophosphataemia With Nephrolithiasis and/or Osteoporosis Drug Induced Fanconi Syndrome Drug-Induced Hypomagnesemia Drug-Induced Nephrogenic Diabetes Insipidus Endocrine System Diseases Epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy Fabry Disease Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis Familial Primary Hypomagnesaemia With Normocalciuria Familial Primary Hypomagnesemia With Hypocalcuria Familial Renal Glucosuria Fanconi Renotubular Syndrome 1 Fanconi Renotubular Syndrome 2 Fanconi Renotubular Syndrome 3 Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Fibrillary Glomerulonephritis Fibromuscular Dysplasia Fibrosis Focal Segmental Glomerulosclerosis Generalised Pseudohypoaldosteronism Type 1 Genetic Diseases, Inborn Genetic Diseases, X-Linked Gitelman Syndrome Glomerulonephritis Glomerulonephritis, IGA Glomerulonephritis, Membranoproliferative Glomerulonephritis, Membranous Glomerulosclerosis, Focal Segmental Glucose Metabolism Disorders Glycosuria Glycosuria, Renal Gonadal Disorders Hamartoma Heavy-Metal-Induced Fanconi Syndrome Hematologic Diseases Hematuria, Benign Familial Hemic and Lymphatic Diseases Hemolytic-Uremic Syndrome Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes Hereditary Hypophosphatemic Rickets With Hypercalciuria Hereditary Renal Hypouricemia Heredodegenerative Disorders, Nervous System Hyperaldosteronism Hyperoxaluria Hyperoxaluria, Primary Hyperuricaemic Nephropathy Hypomagnesemia 1, Intestinal Hypomagnesemia primary Hypophosphatemic Rickets with Hypercalciuria, Hereditary IgA Nephropathy Immune System Diseases Immunoglobulin Light-chain Amyloidosis Immunoproliferative Disorders 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 Joint Diseases Kidney Diseases Kidney Diseases, Cystic Kidney Neoplasms Liddle Syndrome Light Chain Cast Nephropathy Light Chain Proximal Tubulopathy With Crystals Light Chain Proximal Tubulopathy Without Crystals Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lowe Syndrome Lymphoproliferative Disorders Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Male Urogenital Diseases Malformations of Cortical Development Malformations of Cortical Development, Group I Medullary Cystic Kidney Disease Membranoproliferative Glomerulonephritis Membranous Nephropathy Metabolic Diseases Metabolism, Inborn Errors Minimal Change Nephropathy Mitochondrial Disease Of The Kidney Monoclonal Immunoglobulin Deposition Disease Musculoskeletal Diseases Nail Diseases Nail Patella Syndrome Nail-Patella Syndrome Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Complex and Mixed Neoplasms, Multiple Primary Neoplasms, Plasma Cell Neoplastic Syndromes, Hereditary Nephritis Nephritis, Hereditary Nephrogenic Diabetes Insipidus Nephrogenic Syndrome of Inappropriate Antidiuresis Nephronophthisis Nephronophthisis, familial juvenile Nephrosis Nephrosis, Lipoid Nephrotic Syndrome Nervous System Diseases Nervous System Malformations Neurocutaneous Syndromes Neurodegenerative Diseases Nutritional and Metabolic Diseases Oculocerebrorenal Syndrome Paraproteinemias Pathologic Processes Pathological Conditions, Signs and Symptoms Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Polycystic Kidney, Autosomal Recessive Primary Hyperoxaluria Primary Hypomagnesemia With Secondary Hypocalcemia Proliferative Glomerulonephritis With Monoclonal IgG Deposits Proteostasis Deficiencies Proximal Tubulopathy Without Crystals Pseudohypoaldosteronism Pseudohypoaldosteronism Type 1, 2A-2E Pure Red Cell Aplasia Red-Cell Aplasia, Pure Renal Aminoacidurias Renal Tubular Transport, Inborn Errors Renal cysts and diabetes syndrome Renal tubular acidosis, distal, autosomal recessive Retroperitoneal Fibrosis SeSAME syndrome Shiga Toxin Associated Haemolytic Uraemic Syndrome Sickle Cell Nephropathy Skin Diseases Skin and Connective Tissue Diseases Sphingolipidoses Steroid Resistant Nephrotic Syndrome Steroid-Sensitive Nephrotic Syndrome Thin Basement Membrane Nephropathy Thrombocytopenia Thrombotic Microangiopathies Thrombotic Microangiopathy With Monoclonal Gammopathy Tuberous Sclerosis Type 1 Cryoglobulinaemic Glomerulonephritis Unclassified Monoclonal Gammopathy Of Renal Significance Uremia Urination Disorders Urogenital Abnormalities Urogenital Diseases Urogenital Neoplasms Urologic Diseases Urologic Neoplasms Vascular Diseases Vasculitis Wilms Tumor

Sex eligibility

All sexes

Study type

Observational

Primary location

Zoe Plummer

Bristol, South West, BS34 7RR, United Kingdom

Location status: Recruiting

Location contact

Zoe Plummer, Dr

CONTACT

[email protected]

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Facilitate translational and epidemiological research

    Time frame: 2009-2039

    Setting up and maintaining a comprehensive clinical database in partnership with Rare Disease Groups.

Study contacts

Contact information is provided by the study sponsor or research team.

Zoe Plummer

CONTACT

[email protected]

Sponsors and collaborators

Lead sponsor

UK Kidney Association

Other

Registry information

Official study title

National Registry of Rare Kidney Diseases (RaDaR)

Acronym: RaDaR

Important dates

Study start
2009
Primary completion
2039
Study completion
2039
First posted
Oct 4, 2023
Registry last updated
Oct 4, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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