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

Alport Syndrome Clinical Trial

— Eurbio-Alport  

Official title:

Study of the Natural History of Alport Syndrome by Establishment of an International Database

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05927467
• Other study ID #: C15-82
• Status: Recruiting
• Start date: May 9, 2017
• Est. completion date: June 30, 2025

Study information

• Verified date: June 2023
• Source: Institut National de la Santé Et de la Recherche Médicale, France
• Contact: Laurence Heidet, PHD
• Phone: 0033 1 44 49 43 82
• Email: laurence.heidet[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 700
• Est. completion date: June 30, 2025
• Est. primary completion date: June 30, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• 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

Exclusion Criteria:

• No exclusion criteria

Related Conditions & MeSH terms

• Alport Syndrome
• Nephritis, Hereditary
• Syndrome

Locations

Country	Name	City	State
France	RaDiCo Eurbio-Alport	Paris	Île-de-France

Sponsors (1)

Lead Sponsor	Collaborator
Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Disease stage	Stratification of patients according to their disease stage; patients' distribution analysis among countries	Throughout the follow-up
Other	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	Through study completion, at 1 year, 2 year, 3 year
Primary	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
Primary	Urine bio-analysis results: Presence or not and quantification of hematuria, microalbuminuria and proteinuria		Through study completion, at 1 year, 2 year, 3 year
Primary	Presence or not of hypertension		Through study completion, at 1 year, 2 year, 3 year
Primary	Level of Hearing loss		Through study completion, at 1 year, 2 year, 3 year
Primary	Ocular symptoms (presence or not of lenticonus, cataract, retina and cornea impairment)		Through study completion, at 1 year, 2 year, 3 year
Secondary	Adverse events for the long-term safety of RAAS blockers treatment		Through study completion, at 1 year, 2 year, 3 year
Secondary	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	Through study completion, at 1 year, 2 year, 3 year
Secondary	Compliance	Compliance will be evaluated using X. Girerd Compliance Questionnaire	Throughout the follow-up