Alport SyndromeEurbio-AlportNCT05927467
Eurbio-Alport (RaDiCo Cohort) (RaDiCo Eurbio-Alport)
An observational study of Alport Syndrome, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Alport Syndrome
- How many people
- 700 participants
- Where
- 1 siteFrance
- Study dates
- 9 May 2017to 30 Sep 2027
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- Diagnosis of AS based on electron microscopic examination of the renal biopsy and/or molecular studies and/or abnormal expression of type IV collagen chains on skin and/or glomerular basement membranes.
- Signed informed consent
Who cannot join
- No exclusion criteria
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Bertrand Knebelmann, PHD contact
France1 site, 1 recruiting
- Recruiting
RaDiCo Eurbio-Alport
Paris, Île-de-France Region, 75012
Sonia Gueguen, PHD, 0033 6 88 34 54 08, sonia.gueguen@radico.fr
Laurence Heidet, PHD
About this study
Official title: Study of the Natural History of Alport Syndrome by Establishment of an International Database
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:
Read more
- 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.
- Conditions
- Alport Syndrome
- Keywords
- Alport Syndrome, Rare disease, European database, Quality of life, Kidney disease, Molecular diagnostics, Predictive biomarkers
- Medical subject headings
- Nephritis, Hereditary, Rare Diseases, Kidney Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Renal function: eGFR, age at ESRD, requirement of Renal Replacement Therapy (RRT) and type of RRT
Measured: Through study completion, at 1 year, 2 year, 3 year
Urine bio-analysis results: Presence or not and quantification of hematuria, microalbuminuria and proteinuria
Measured: Through study completion, at 1 year, 2 year, 3 year
Presence or not of hypertension
Measured: Through study completion, at 1 year, 2 year, 3 year
Level of Hearing loss
Measured: Through study completion, at 1 year, 2 year, 3 year
Ocular symptoms (presence or not of lenticonus, cataract, retina and cornea impairment)
Measured: Through study completion, at 1 year, 2 year, 3 year
Secondary outcomes (3)
Adverse events for the long-term safety of RAAS blockers treatment
Measured: 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
Measured: Through study completion, at 1 year, 2 year, 3 year
Compliance
Compliance will be evaluated using X. Girerd Compliance Questionnaire
Measured: Throughout the follow-up
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Jul 2023
- Study start9 May 2017
- Primary completion30 Sep 2027 (estimated)
- Study completion30 Sep 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Alport SyndromeStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 700 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Laurence Heidet, PHD, Principal investigator, INSERM U933
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05927467
- Sponsor's protocol ID
- C15-82
- Acronym
- Eurbio-Alport
- Status last verified
- Sep 2026
- First submitted
- 20 Dec 2021
- Last updated
- 21 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided