The hereditary type IV collagen disease Alport syndrome leads to kidney failure early in life. Currently there are no specific medications approved for treatment, however, several therapies have been evaluated preclinically and could improve outcome. For that reason, this non-interventional, observational study investigates, if medications (1) delay disease progression; (2) delay time to kidney failure; (3) improve life-expectancy compared to untreated patients (relatives). This observational study started in 2006 as an European registry. Since 2019, this registry has been expanded to "Alport XXL" via the International Alport Alliance as a global effort across all continents. From 2020 on to present, "Alport XXL" has a special focus on the outcomes of early therapy in young patients on ACE-inhibitors vs. Angiotensin-receptor blockers vs. their combination.
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For Alport XXL, eligible patients were children or young adults with a definitive diagnosis of AS by genetic analysis or kidney biopsy and at early stages of AS (stages 0, I or II) at baseline. AS stages were defined as: Stage 0 Microhematuria without microalbuminuria Stage I Microalbuminuria: UACR 30-300 mg/gCreatinine Stage II Proteinuria: UACR \>300 with eGFR\>60 ml/min/1.73m2 Stage III eGFR\<60 ml/min/1.73m2 Stage IV end stage kidney failure Stage V death (from all causes)
Cohort
Cross-sectional
ACE-inhibitor
Drugobservational study
Angiotensin-receptor blocker (ARB)
Drugobservational study
HMG-Coenzyme inhibitor (statin)
Drugobservational study
Spironolactone or Finerenone
Drugobservational study
Paricalcitol
Drugobservational study!
SGLT2 inhibitor
Drugobservational study
6
Treatment groupsSee each treatment group below.
age at onset of end stage kidney failure (need for renal replacement therapy)
kidney disease in Alport syndrome starts at birth, age at onset of end stage kidney failure in years
life-expectancy in years (age at death)
Alport syndrome starts at birth, age at death of patients in years
yearly loss of estimated glomerular filtration rate (eGFR)
kidney disease in Alport syndrome starts at birth, eGFR-loss per year in ml/min/1.73m2
time in years until doubling or tripling of urinary albumin to creatinine ratio (UACR)
kidney disease in Alport syndrome starts at birth; time since birth to doubling (AS stages I or II) or tripling (AS stage 0) of UACR in years.
amount of albuminuria over time
kidney disease in Alport syndrome starts at birth; change in albuminuria after birth
amount of proteinuria over time
kidney disease in Alport syndrome starts at birth; change in proteinuria after birth
number of patients with X-chromosomal or autosomal inheritance
specific genetic variant: X-linked, digenic, autosomal heterozygous, homozygous, compound heterozygous
number of patients experiencing side effects (AEs)
AEs of special interest: acute kidney renal failure, angioedema, hyperkalemia, dry cough, symptomatic hypotension (orthostatic collapse) and others, and death from all causes.
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University Hospital Goettingen
Lead sponsor
Society for Pediatric Nephrology (Germany)
Collaborator
