An observational study in Alport Syndrome, sponsored by Institut National de la Santé Et de la Recherche Médicale, France. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2026-09-21.
Sponsored by Institut National de la Santé Et de la Recherche Médicale, France · Observational
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:
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.
38 studies on the registry are indexed under Nephritis, Hereditary; 14 are open to participants now.
This study's planned enrollment of 700 is close to the median of 655 across 17 observational studies indexed under Nephritis, Hereditary.
Browse Nephritis, Hereditary studies →Institut National de la Santé Et de la Recherche Médicale, France is the lead sponsor of 378 studies on the registry; 81 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The countries that are potentially interested in joining the project have identified in their local records about 100 (Germany), 200 (Spain), 100 (United Kingdom), 785 (Italy), 100 (Belgium) patients. The database ASTOR in USA have included 800 patients. For France, the CEMARA database contains currently 680 Alport Syndrome patients while there are 950 identified patients in France. These patients are followed in nephrology and paediatric nephrology services belonging to the French network for rare renal diseases. Prevalent cases will include cases already registered in the different existing databases in the different countries, after monitoring that the inclusion criteria are respected. There is no known estimated incident rate, but according to the available information and the estimated prevalence rate (1/5,000), it is expected to enrol roughly between 100 and 200 incident patients/year in the study.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
- No exclusion criteria
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Renal 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
Disease stage
Stratification of patients according to their disease stage; patients' distribution analysis among countries
Time frame: Throughout the follow-up
Urinal concentration of specific molecules
Correlation assessment between the urinal concentration of the five molecules recently described by Terzi's lab as predicting progression of CKD (or other putative biomarkers) with the rate of decline of the GFR (according of the estimated GFR) on a 3 year- period
Time frame: Through study completion, at 1 year, 2 year, 3 year
Plan to share: Undecided
No publications or documents are linked to this record.
Started May 2017 (actual). Primary completion is estimated for Sep 2027, 124 months after the start.
How these figures are worked out, and which studies are left out of them.
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