Eurbio-Alport (RaDiCo Cohort) (RaDiCo Eurbio-Alport)

NCT05927467 | Recruiting

• 1 other identifier: C15-82
• Study Type: observational
• Target: 700
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Alport Syndrome

Keywords

Alport Syndrome; Rare disease; European database; Quality of life; Kidney disease; Molecular diagnostics; Predictive biomarkers

Outcome Measures

Primary Outcomes (5)

• Renal function: eGFR, age at ESRD, requirement of Renal Replacement Therapy (RRT) and type of RRT

  Through study completion, at 1 year, 2 year, 3 year

• Urine bio-analysis results: Presence or not and quantification of hematuria, microalbuminuria and proteinuria

  Through study completion, at 1 year, 2 year, 3 year

• Presence or not of hypertension

  Through study completion, at 1 year, 2 year, 3 year

• Level of Hearing loss

  Through study completion, at 1 year, 2 year, 3 year

• Ocular symptoms (presence or not of lenticonus, cataract, retina and cornea impairment)

  Through study completion, at 1 year, 2 year, 3 year

Secondary Outcomes (3)

• Adverse events for the long-term safety of RAAS blockers treatment

  Through study completion, at 1 year, 2 year, 3 year

• Quality of life questionnaires

  Through study completion, at 1 year, 2 year, 3 year

• Compliance

  Throughout the follow-up

Other Outcomes (2)

• Disease stage

  Throughout the follow-up

• Urinal concentration of specific molecules

  Through study completion, at 1 year, 2 year, 3 year

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

RaDiCo Eurbio-Alport

Paris, Île-de-France Region, 75012, France

RECRUITING

MeSH Terms

Conditions

Nephritis, Hereditary; Rare Diseases; Kidney Diseases

Condition Hierarchy (Ancestors)

Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Nephritis; Urologic Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Laurence Heidet, PHD

  INSERM U933

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Laurence Heidet, PHD

CONTACT

0033 1 44 49 43 82; laurence.heidet@aphp.fr

Bertrand Knebelmann, PHD

CONTACT

bertrand.knebelmann@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 20, 2021
• First Posted: July 3, 2023
• Study Start: May 9, 2017
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): June 30, 2026
• Last Updated: September 18, 2025

Record last verified: 2025-09

Locations

FR (1)