Analysis of Patients With Autosomal Dominant Polycystic Kidney

NCT06759142 | Recruiting

• 1 other identifier: ADPKD-TO2020
• Study Type: observational
• Target: 180
• Locations: 1 country
• Sites: 1

Brief Summary

The main objective of the study is to establish a database of clinical data and genetic data of patients diagnosed with ADPKD, with particular focus on those who have undertaken a specific therapy (Tolvaptan or Octreotide), afferent to the Integrated Renal Genetic Diseases Outpatient Clinic of the U.O. Nephrology, Dialysis and Transplantation of the Sant'Orsola-Malpighi Polyclinic directed by Prof. La Manna. In-depth analysis and comparison on clinical, laboratory and instrumental outcomes will be performed within this population. A thorough personal and family history will be obtained, and once informed consent is obtained, data will be entered and updated during subsequent outpatient monitoring. Attention is paid to the clinical course of the disease in relation to genetic variants (genotype-phenotype correlation) and treatments performed by patients, in order to monitor the progression of the disease to end-stage renal failure (ESRD) and the impact that specific therapy has on various parameters identified as indicating such progression. In particular, monitoring of the reduction in renal function, as assessed by creatinine, eGFR, 24-hour proteinuria, and urinary osmolarity values, with attention to comparing developmental trends toward ESDR between patients not receiving therapy and patients on specific therapy, and monitoring of the numerical and/or volumetric increase in renal cysts, as assessed by imaging comparison of the TKV value at the time of diagnosis of polycystic kidney disease and at subsequent re-evaluation, with attention to the extent of progression following the initiation of specific therapy, will be performed.

Conditions

Autosomal Dominant Polycystic Kidney; ADPKD

Keywords

ADPKD

Outcome Measures

Primary Outcomes (1)

• To establish a database of clinical data and genetic data of patients diagnosed with ADPKD

  The main objective of the study is to establish a database of clinical data and genetic data of patients diagnosed with ADPKD, with particular focus on those who have undertaken a specific therapy (Tolvaptan or Octreotide), afferent to the Integrated Renal Genetic Diseases Outpatient Clinic of the U.O. Nephrology, Dialysis and Transplantation of the Sant'Orsola-Malpighi Polyclinic directed by Prof. La Manna. In-depth analysis and comparison on clinical, laboratory and instrumental outcomes will be performed within this population.

  5 years

Eligibility Criteria

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

Study Population

All patients with a definite diagnosis of ADPKD referred to the Integrated Renal Genetic Disease Outpatient Clinic of theTU.O. Nephrology, Dialysis and Transplantation of Policlinico Sant'Orsola-Malpighi directed by Prof La Manna from 01/01/2017 to 01/06/2025.

You may qualify if:

• Age-matched subjects with a diagnosis of ADPKD defined on the basis of the Unified Criteria of Pei. Diagnosis in subjects with a positive family history is based on age-differentiated ultrasound criteria. The presence of a "total of 3 or more cysts" in subjects aged 18-39 years and "2 or more cysts in each kidney" in at-risk subjects aged 40-59 years are sufficient to make the diagnosis of ADPKD.In the absence of family history, the presence of more than 10 cysts per kidney on ultrasound is typically considered diagnostic. Where the picture appears unclear, and particularly where the diagnosis has a major fallout (related to family planning, renal donation, initiation of specific drug treatment), genetic confirmation is strongly recommended.
• Obtaining Informed Written Consent.

You may not qualify if:

• None.

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, 40138, Italy

RECRUITING

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 Officials

• Gaetano La Manna, MD

  IRCCS Azienda Ospedaliero-Universitaria di Bologna

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Gaetano La Manna, MD

CONTACT

+390512144577; gaetano.lamanna@unibo.it

Study Design

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

Study Record Dates

• First Submitted: December 30, 2024
• First Posted: January 6, 2025
• Study Start: February 20, 2021
• Primary Completion: June 1, 2025
• Study Completion: June 1, 2025
• Last Updated: January 6, 2025

Record last verified: 2024-12

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)