The BAPN is committed to both high quality basic science and translational research, and multicentre clinical trials across all areas of quantitative and qualitative research.The structure of BAPN research is now geared to achieve the latter aspect with maximum efficiency in the current NHS funding environment. The responsibility of the Research Secretary (currently Dr Moin Saleem) is to co-ordinate the UK paediatric nephrology centres in moving clinical trials from ideas to protocol development to funding and implementation,involving as many centres as possible. The structure has recently become embedded within the UK Clinical Research Networks (UKCRN), the research arm of the NHS. One of the six research priority topics for UKCRN is the Medicines
for Children Research Network (MCRN). This is a funded organisation, with dedicated research infrastructure across England, including research nurses, statisticians, pharmacists etc. MCRN has established Clinical Study
Groups (CSG) in paediatric subspecialties, and nephrology now has a CSG, with a dedicated Chair (Moin Saleem), and members from almost all UK nephrology centres.This is an exciting time for clinical research, and means that nephrology is now in a strong position to take forward identified clinical trials,with support for funding applications from the CSG.
A familial study of childhood renal artery stenosis.
We are conducting a familial study of childhood renal artery stenosis at GOSH and would be interested if BAPN research centres could contact Steve Marks at markss2@gosh.nhs.uk if they have patients with renal artery stenosis that they would consider for inclusion into the study. We have started up a DNA bank from over 10 patients seen at GOSH as well as their family members (parents and siblings) and wish to extend the study to all UK centres where RAS is treated. Our aims are to collect DNA from those families and in the future, carry out a genome search to test candidate genes affecting vascular growth in a large population. Please find below an abstract outlining information on the study: Background: Childhood renal artery stenosis (RAS) leading to renovascular hypertension (RVH) is usually associated with fibromuscular dysplasia (FMD). RAS/FMD is most likely a primary disorder of arterial maturation, and two previous studies reported that it can be inherited as a dominant, non-syndromic trait. Aims: To determine the incidence of hypertension in first-degree relatives of a cohort of non-syndromic index cases with RVH as a first step to answering whether RAS/FMD commonly runs in families. Methods: Recruitment of individuals diagnosed with childhood RVH and their first-degree relatives. Exclusion criteria of index cases with defined syndromes (neurofibromatosis, Williams and Alagille syndrome). Family histories were obtained and visits arranged for blood pressure measurement (BPM) and, when indicated, 24-hour ambulatory blood pressure monitoring (ABPM). Results: Ten unrelated index cases (60% male) aged 7-32 (median 14) years were recruited, with 27 first-degree relatives comprising 16 (63% mothers) parents aged 28-58 (median 44) years and 11 (64% sisters) siblings aged 5-30 (median 19) years, including one consanguineous family. Hypertension was evident in 25% of parents from different families (three were on anti-hypertensive medications, with one mother discovered to be hypertensive by BPM and ABPM. All six adult siblings were normotensive. Of the five siblings aged <18 years, one female teenager was pre-hypertensive (90-95th centile BP for age, sex and height). The remaining siblings <18 years were normotensive (two with BP<50th and two with BP 50th-90th centiles). Conclusion: Given that the incidence of hypertension in the general adult population is around 25%, the incidence of hypertension in parents of our index cases was not increased. Although none of the hypertensive parents have had RAS formally excluded by renal angiography, this finding, together with the lack of overt hypertension in siblings, can be interpreted as evidence that familial RAS/FMD leading to hypertension is a rare occurrence.
Familial Hypomagnesemia with hypercalciuria and nephrocalcinosis(FHHNC)
Dear BAPN members, In our laboratory we started an international scientific collaboration aimed at identifying the spectrum of mutations in paracellin-1 gene and other candidate genes that may be involved in the pathogenesis of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). The study would imply the investigation of clinically well-characterized FHHNC isolated cases and pedigrees from different populations and countries: this will allow the inference of the genetic epidemiology of the disorder and the study of the genotype-phenotype relationship. We are trying to expand the number of FHHNC cases enrolled in this study and seek help from the national communities of pediatric nephrologists. All what we need is a blood sample from which DNA could be isolated. Physicians providing cases, blood (or isolated DNA), and basic clinical details will appear as co-authors in all the publications arising from the outcome of the study. All the costs of laboratory investigations and manuscript(s)preparation and submission will be covered by our University. Blood collection shipping costs will be covered by the participating physicians. Many thanks for your kind attention to this proposal of collaboration. Please, let me know if you need further details on the project and the collaboration. Best regards. Roberto Colombo ========================== Roberto Colombo, PhD Professor of Clinical Genetics Head Laboratory of Human Molecular Biology and Genetics Catholic University of the Sacred Heart P.za Buonarroti 30 20145 Milan (Italy) Phone: +39 02 460055 Fax: + 39 02 468629 E-mail: roberto.colombo@unicatt.it
Long-term tapering versus standard prednisolone (steroid) therapy for the treatment of the initial episode of childhood nephrotic syndrome: national multicentre randomised double blind pilot study Short Title: Long-term tapering or standard steroids for nephrotic syndrome |
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Study ID Numbers: |
2004-001813-33 |
Study Type: |
Interventional |
Study Design: |
Randomised double blind pilot study |
| Eligibility : | |
| Ages Eligible for Study: | 1 Years - 15 Years |
| Genders Eligible for Study: | Both Criteria |
Inclusion Criteria: |
» Urine albumin: creatinine ratio > 200mg/mmol, determined quantitatively on a early morning urine sample. » Hypoalbuminemia < 25g/L » Age over 1 year and less than 15 years at the time of diagnosis. » No prior therapy with steroids or cytotoxic agents. » No evidence of underlying systemic disorder or exposure to agents known to be associated with newly presenting steroid sensitive nephrotic syndrome (NS). |
Exclusion Criteria: |
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Link to Protocol
Contact f.bibi@bham.ac.uk
Minutes of the BAPNResearch Meetings |
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12-10-2007 |
Bristol- Minutes |
| 06-03-2008 | Bristol- Minutes |
Executive members receive a cheque for 100k from KKR to pump prime collaborative multicentre clinical and translational research into children's kidney disease.