National Registry of Rare Kidney Diseases : National Registry of Rare Kidney Diseases (RaDaR)
BackgroundRare 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.PurposeThe 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..
| Medienart: |
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Klinische Studie| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
ClinicalTrials.gov - (2023) vom: 04. Okt. Zur Gesamtaufnahme - year:2023 |
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| Sprache: |
Englisch |
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| Links: |
Volltext [kostenfrei] |
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| Anmerkungen: |
Source: Link to the current ClinicalTrials.gov record., First posted: October 4, 2023, Last downloaded: ClinicalTrials.gov processed this data on October 11, 2023, Last updated: October 11, 2023 |
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| Study ID: |
NCT06065852 |
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| Veröffentlichungen zur Studie: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
CTG009450637 |
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| 035 | |a (UBBS_Klinische_Studien)RaDaR | ||
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| 245 | 1 | 0 | |a National Registry of Rare Kidney Diseases |b National Registry of Rare Kidney Diseases (RaDaR) |
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| 500 | |a Source: Link to the current ClinicalTrials.gov record., First posted: October 4, 2023, Last downloaded: ClinicalTrials.gov processed this data on October 11, 2023, Last updated: October 11, 2023 | ||
| 520 | |a BackgroundRare 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.PurposeThe 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. | ||
| 650 | 2 | |a Kidney Neoplasms | |
| 650 | 2 | |a Tuberous Sclerosis | |
| 650 | 2 | |a Immunoglobulin Light-chain Amyloidosis | |
| 650 | 2 | |a Denys-Drash Syndrome | |
| 650 | 2 | |a Osteoporosis | |
| 650 | 2 | |a Arthrogryposis | |
| 650 | 2 | |a Rickets | |
| 650 | 2 | |a Rickets, Hypophosphatemic | |
| 650 | 2 | |a Familial Hypophosphatemic Rickets | |
| 650 | 2 | |a Nail-Patella Syndrome | |
| 650 | 2 | |a Deafness | |
| 650 | 2 | |a Hearing Loss, Sensorineural | |
| 650 | 2 | |a Fabry Disease | |
| 650 | 2 | |a Oculocerebrorenal Syndrome | |
| 650 | 2 | |a Inappropriate ADH Syndrome | |
| 650 | 2 | |a Kidney Diseases | |
| 650 | 2 | |a Nephrotic Syndrome | |
| 650 | 2 | |a Nephrosis | |
| 650 | 2 | |a Polycystic Kidney Diseases | |
| 650 | 2 | |a Glomerulonephritis, IGA | |
| 650 | 2 | |a Glomerulonephritis | |
| 650 | 2 | |a Polycystic Kidney, Autosomal Dominant | |
| 650 | 2 | |a Glomerulonephritis, Membranous | |
| 650 | 2 | |a Nephrolithiasis | |
| 650 | 2 | |a Glomerulosclerosis, Focal Segmental | |
| 650 | 2 | |a Azotemia | |
| 650 | 2 | |a Hemolytic-Uremic Syndrome | |
| 650 | 2 | |a Hyperoxaluria, Primary | |
| 650 | 2 | |a Atypical Hemolytic Uremic Syndrome | |
| 650 | 2 | |a Diabetes Insipidus | |
| 650 | 2 | |a Nephritis, Hereditary | |
| 650 | 2 | |a Cystinuria | |
| 650 | 2 | |a Glomerulonephritis, Membranoproliferative | |
| 650 | 2 | |a Nephrocalcinosis | |
| 650 | 2 | |a Dent Disease | |
| 650 | 2 | |a Diabetes Insipidus, Nephrogenic | |
| 650 | 2 | |a Acidosis, Renal Tubular | |
| 650 | 2 | |a Polycystic Kidney, Autosomal Recessive | |
| 650 | 2 | |a Fanconi Syndrome | |
| 650 | 2 | |a Gitelman Syndrome | |
| 650 | 2 | |a Pseudohypoaldosteronism | |
| 650 | 2 | |a Bartter Syndrome | |
| 650 | 2 | |a Kidney Diseases, Cystic | |
| 650 | 2 | |a Renal Tubular Transport, Inborn Errors | |
| 650 | 2 | |a Nephrosis, Lipoid | |
| 650 | 2 | |a Liddle Syndrome | |
| 650 | 2 | |a Glycosuria, Renal | |
| 650 | 2 | |a Vasculitis | |
| 650 | 2 | |a Fibromuscular Dysplasia | |
| 650 | 2 | |a Histiocytosis | |
| 650 | 2 | |a Paraproteinemias | |
| 650 | 2 | |a Monoclonal Gammopathy of Undetermined Significance | |
| 650 | 2 | |a Thrombotic Microangiopathies | |
| 650 | 2 | |a Red-Cell Aplasia, Pure | |
| 650 | 2 | |a Fanconi Anemia | |
| 650 | 2 | |a Cystinosis | |
| 650 | 2 | |a Diabetes Mellitus | |
| 650 | 2 | |a Amyloidosis | |
| 650 | 2 | |a Acidosis | |
| 650 | 2 | |a Mitochondrial Diseases | |
| 650 | 2 | |a Hypocalcemia | |
| 650 | 2 | |a Hypophosphatemia | |
| 650 | 2 | |a Calciphylaxis | |
| 650 | 2 | |a Syndrome | |
| 650 | 2 | |a Hypercalciuria | |
| 650 | 2 | |a Retroperitoneal Fibrosis | |
| 650 | 4 | |a Study Type: Observational | |
| 650 | 4 | |a Recruitment Status: Recruiting | |
| 650 | 4 | |a 610 | |
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