A Possible Founding PKD2 Mutation Associated With Variable Phenotypes of ADPKD in Bergamo Province

NCT06594367 | Completed

• 1 other identifier: POPULAR
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

This is an observational study aimed at assessing if a new and specific heterozygous deletion detected at PKD2 gene is associated to a "founder effect" in 10 Autosomal dominant polycystic kidney disease (ADPKD) patients, and at investigating the genotype-phenotype correlation in the families sharing the same PKD2 breakpoint site.

Conditions

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Keywords

PKD2 mutation; founder effect; Bergamo province; variable phenotype

Outcome Measures

Primary Outcomes (2)

• Evidence of a deletion

  Evidence of an heterozygous copy number variation (CNV) indicative of a deletion of at least 11,000 base pairs (bp) and spanning exons 1-2 (DNA amplification by long-range PCR).

  At day 1

• Genetic counseling

  All the patients sharing the same PKD2 deletion will be interviewed about their personal and familial anamnesis. Starting from the pedigree and the detailed family medical history, the genotype-phenotype correlation will be defined and other potentially affected family members, if any, will be identified.

  At day 1

Study Arms (1)

Patients

10 patients from di 7 families living in 3 villages of the Bergamo province i.e., Torre de Roveri, Albano S. Alessandro and Scanzorosciate who during genetic tests for ADPKD have revealed the presence of a new heterozygous deletion in the PKD2 gene will be included in this study.

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

Italian cohort of ADPKD patients who were referred to the Clinical Research Centre for Rare Diseases Aldo e Cele Daccò for genetic analysis through the Italian National Health Service.

You may qualify if:

• Patients with ADPKD

You may not qualify if:

• Healthy patients

Sponsors & Collaborators

• Mario Negri Institute for Pharmacological Research: lead

Study Sites (1)

Clinical Research Centre for Rare Diseases Aldo e Cele Daccò

Ranica, BG, 24020, Italy

Location

Related Publications (3)

• Orisio S, Noris M, Rigoldi M, Bresin E, Perico N, Trillini M, Donadelli R, Perna A, Benigni A, Remuzzi G. Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement. Nephron. 2024;148(5):273-291. doi: 10.1159/000530657. Epub 2023 May 25.

  PMID: 37231942 BACKGROUND

• Willey CJ, Blais JD, Hall AK, Krasa HB, Makin AJ, Czerwiec FS. Prevalence of autosomal dominant polycystic kidney disease in the European Union. Nephrol Dial Transplant. 2017 Aug 1;32(8):1356-1363. doi: 10.1093/ndt/gfw240.

  PMID: 27325254 BACKGROUND

• Cornec-Le Gall E, Audrezet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, Guillodo MP, Grall-Jezequel A, Saliou P, Ferec C, Le Meur Y. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013 May;24(6):1006-13. doi: 10.1681/ASN.2012070650. Epub 2013 Feb 21.

  PMID: 23431072 BACKGROUND

MeSH Terms

Conditions

Polycystic Kidney, Autosomal Dominant

Condition Hierarchy (Ancestors)

Polycystic Kidney Diseases; Kidney Diseases, Cystic; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ciliopathies; Genetic Diseases, Inborn

Study Design

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

Study Record Dates

• First Submitted: September 2, 2024
• First Posted: September 19, 2024
• Study Start: January 22, 2025
• Primary Completion: October 17, 2025
• Study Completion: October 31, 2025
• Last Updated: March 23, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)