Simulated and Synthetic Health Data: Improving Clinical Research on Rare Diseases. A Real-World Data Simulation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) Trials. A Retrospective, Observational Study

NCT07016282 | Active Not Recruiting

• 1 other identifier: SAILING-ADPKD
• Study Type: observational
• Target: 100
• Locations: 2 countries
• Sites: 2

Brief Summary

This is a no-profit, retrospective observational study involving real-world data (RWD), retrieved from ADPKD-related electronic health records stored at Mario Negri Institute IRCCS. RWD will be used to generate simulated and synthetic datasets, using AI tools. RWD and generated data (GD) will be used to conduct three virtual RCTs, which main outcome is change in Total Kidney Volume (TKV). Statistical tests will be performed to assess quality and privacy preservation of GD compared with RWD. GD will be also evaluated in exploratory sample size estimations.

Conditions

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Keywords

rare diseases; RCTs; Monte Carlo simulation; generative AI; ADPKD

Outcome Measures

Primary Outcomes (1)

• Changes in total kidney volume (TKV)

  Changes in TKV in mL.

  At baseline, and immediately after data generation procedure.

Study Arms (3)

Real-world data form ADPKD patients

Real-world data from ADPKD-related electronic health records (EHR) stored at the Istituto di Ricerche Farmacologiche Mario Negri IRCCS, primarily based on the ALADIN (NCT00309283) and ALADIN 2 (NCT01377246) studies

Simulated data

Data based on RWD from the ADPKD patients and derived from predefined statistical models (e.g., normal distribution for continuous variables, binomial distribution for categorical variables).

Synthetic data

Data generated from the RWD of the ADPKD patients using generative large languages models (LLMs)

Eligibility Criteria

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

Study Population

Data from ADPKD patients collected in the form of electronic health records (EHR) stored at the Istituto di Ricerche Farmacologiche Mario Negri IRCCS, primarily based on two completed studies performed at the Mario Negri Institue i.e., the ALADIN Study (NCT00309283) and the ALADIN 2 Study (NCT01377246), which enrolled ADPKD-patients treated either with Octreotide-LAR or placebo.

You may qualify if:

• Adult (\>18 years) men and women with ADPKD according to Ravine criteria25
• Estimated glomerular filtration rate (eGFR) between 15 and 40 mL/min/1.73 m2 (CKD stage: G3b-G4) or higher (CKD stage: G1-G3a), as calculated by the Modification of Diet in Renal Disease study four variables equation

You may not qualify if:

• confounding factors that could affect renal function loss independent of kidney growth and treatment allocation (i.e., diabetes mellitus, urinary protein excretion rate \>3 g/24 h)
• Abnormal urinalysis suggestive of concomitant, clinically significant glomerular disease, and urinary tract lithiasis or infection
• Patients with major systemic disease
• Patients unable to provide informed consent
• Pregnant, lactating, or potentially childbearing women without adequate contraception

Sponsors & Collaborators

• Mario Negri Institute for Pharmacological Research: lead

Study Sites (2)

Clinical Research Centre for Rare Diseases Aldo e Cele Daccò

Ranica, BG, 24020, Italy

Location

Department of Global Public Health (GPH), Karolinska Institutet

Stockholm, 171 77, Sweden

Location

Related Publications (27)

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MeSH Terms

Conditions

Polycystic Kidney, Autosomal Dominant; Rare Diseases

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; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Giuseppe Remuzzi, M.D.

  Istituto Di Ricerche Farmacologiche Mario Negri

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 27, 2025
• First Posted: June 11, 2025
• Study Start: June 12, 2025
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): June 1, 2027
• Last Updated: September 2, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

SE (1); IT (1)