Alport syndrome is a rare, inherited condition characterized by a combination of glomerular nephropathy progressing to kidney failure, deafness, and eye involvement. This disease is associated with mutations in the genes encoding one of the three IV collagen chains expressed in the glomerular basement membrane. Significant progress has been made in understanding the molecular mechanisms responsible for the disease, but relatively little in understanding the progression of renal failure and in the area of therapeutics. We have shown in a retrospective European study that blockers of the renin angiotensin system may slow disease progression, but no controlled studies have been performed. Finally, innovative therapies (anti-micro-RNA, stem cells) have recently shown their effectiveness in animal models of the disease, and industrials are planning to quickly carry out phase 1 trials to test molecules. Carrying out therapeutic trials in humans will require full knowledge of the natural history of the disease (isolated hematuria, microalbuminuria, macroalbuminuria, renal failure and its progression) and gathering a sufficient number of patients, especially in the early stages. These trials and the indications for treatments would be greatly facilitated by the discovery of biomarkers that make it possible to predict the progression to renal failure earlier than the onset of proteinuria. The study aims to: * Establish a European database on Alport syndrome to assess the natural history of the disease. * To investigate the impact of the disease on the educational and professional life of patients and their families, and on the adherence and tolerance to renin-angiotensin system blockers prescribed to proteinuric patients. * Investigate access to molecular diagnostics and genetic counseling, as well as identify biomarkers that can predict progression of kidney disease. This project will be carried out at a French level with the support and participation of the very active renal rare disease sector, in collaboration with various countries wishing to participate.
Study Type
OBSERVATIONAL
Enrollment
700
RaDiCo Eurbio-Alport
Paris, Île-de-France Region, France
RECRUITINGRenal function: eGFR, age at ESRD, requirement of Renal Replacement Therapy (RRT) and type of RRT
Time frame: Through study completion, at 1 year, 2 year, 3 year
Urine bio-analysis results: Presence or not and quantification of hematuria, microalbuminuria and proteinuria
Time frame: Through study completion, at 1 year, 2 year, 3 year
Presence or not of hypertension
Time frame: Through study completion, at 1 year, 2 year, 3 year
Level of Hearing loss
Time frame: Through study completion, at 1 year, 2 year, 3 year
Ocular symptoms (presence or not of lenticonus, cataract, retina and cornea impairment)
Time frame: Through study completion, at 1 year, 2 year, 3 year
Adverse events for the long-term safety of RAAS blockers treatment
Time frame: Through study completion, at 1 year, 2 year, 3 year
Quality of life questionnaires
Impact of disease on quality of life will be evaluated through scores of quality of life questionnaires SF36 for Adult et SF10 for paediatric patients
Time frame: Through study completion, at 1 year, 2 year, 3 year
Compliance
Compliance will be evaluated using X. Girerd Compliance Questionnaire
Time frame: Throughout the follow-up
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