PART 4 – SUMMARY OF EVIDENCE Provide an overview of all key journal articles or research published in the public domain related to the proposed service that is for your application (limiting these to the English language only). Please do not attach full text articles, this is just intended to be a summary. Type of study Title of journal article or research project Short description of research Website link to journal Date of publication*** design* (including any trial identifier or study lead if (max 50 words)** article or research (if relevant) available) 1. Retrospective Early angiotensin-converting enzyme ‘This supports the need for early Gross et al. Kidney Int 2015; observational inhibition in Alport syndrome delays renal diagnosis and early 291:494-501 registry failure and improves life expectancy. 274 nephroprotective therapy in people followed for 20 years. ACE inhibitors oligosymptomatic patients’. delayed onset of renal failure 2. Retrospective Outcomes of male patients with Alport 456 males with AS in European Temme et al. Clin JASN observational syndrome undergoing renal replacement registries; delayed age at onset of 2012;7: 1969-76 registry therapy end-stage renal failure 3. Retrospective Incidence of renal failure and 234 Alport mutation carriers in Temme et al. Kid Int 2012; nephroprotection by RAAS inhibition in European registries; figure 5: 81: 779-83 observational heterozygous carriers of X-chromosomal and delayed onset of renal failure with registry autosomal recessive Alport mutations preemptive ACE inhibitors 4. Expert guidelines Expert guidelines for the management of Advocates genetic testing, and Savige et al. JASN 2013; 24: Alport syndrome and Thin basement ACE inhibition 364-375 membrane nephropathy 5. Clinical practice Clinical practice recommendations for the Advocates ACE inhibition even Kashtan et al. Ped Nephrol recommendations treatment of Alport syndrome: a statement of before the onset of proteinuria 2013: 28: 5 - 11 the Alport syndrome research collaborative 6. Animal model Preemptive Ramipril therapy delays renal Advocates ACE inhibition even Gross et al. Kidney Int 2003; failure and reduces renal fibrosis in before the onset of proteinuria in 63: 438-446. mice with Alport syndrome mouse model
PART 4 – SUMMARY OF EVIDENCE Provide an overview of all key journal articles or research published in the public domain related to the proposed service that is for your application (limiting these to the English language only). Please do not attach full text articles, this is just intended to be a summary. Type of study design* Title of journal article or research project (including any trial identifier or study lead if relevant) Short description of research (max 50 words)** Website link to journal article or research (if available) Date of publication*** 1. Retrospective observational registry Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. 274 people followed for 20 years. ACE inhibitors delayed onset of renal failure ‘This supports the need for early diagnosis and early nephroprotective therapy in oligosymptomatic patients’. Gross et al. Kidney Int 2015; 291:494-501 2. Retrospective observational registry Outcomes of male patients with Alport syndrome undergoing renal replacement therapy 456 males with AS in European registries; delayed age at onset of end-stage renal failure Temme et al. Clin JASN 2012;7: 1969-76 3. Retrospective observational registry Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations 234 Alport mutation carriers in European registries; figure 5: delayed onset of renal failure with preemptive ACE inhibitors Temme et al. Kid Int 2012; 81: 779-83 4. Expert guidelines Expert guidelines for the management of Alport syndrome and Thin basement membrane nephropathy Advocates genetic testing, and ACE inhibition Savige et al. JASN 2013; 24: 364-375 5. Clinical practice recommendations Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport syndrome research collaborative Advocates ACE inhibition even before the onset of proteinuria Kashtan et al. Ped Nephrol 2013: 28: 5 - 11 6. Animal model Preemptive Ramipril therapy delays renal failure and reduces renal fibrosis in mice with Alport syndrome Advocates ACE inhibition even before the onset of proteinuria in mouse model Gross et al. Kidney Int 2003; 63: 438-446.
1449-MSAC-Application-(redacted).docx