Retrospective Chart Review Screening Algorithm to Assess the Prevalence of PNH-clones

Retrospective Electronic Chart Review to Assess the Prevalence of PNH-clones Among Patients Identified With PNH Risk Factors

The present study is a non-interventional retrospective chart review study assessing the prevalence of PNH-clones in patients with PNH risk-factors aged ≥14 years and treated at our hospital. The objective of this study is to develop a PNH screening tool on the hospital Electronic Health Record (EHR) system. An algorithm defining PNH risk groups is developed.

Study Overview

• Status: Completed
• Conditions: Thrombosis; PNH
• Intervention / Treatment: Other: No intervention

Detailed Description

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a life-threatening hematological disorder, but with an effective therapy. Prevalence is estimated between 1-5 per million people, often manifested by cardiovascular, gastrointestinal, neurological or haematological symptoms. Referral is therefore typically to several specialists, resulting in PNH underdiagnosis.

This chart review study consists primarily of developing an algorithm to identify a high-risk cohort of potential PNH patients who need treatment from all registered patients, with maximum ability to find relevant cases. Secondly, this cohort will be manually reviewed by clinicians for final screening. The challenge hence is maximizing the ability to find all relevant PNH patients yet limiting the number to ensure manual review is possible.

• Study Type: Observational
• Enrollment (Actual): 568

Contacts and Locations

Study Locations

• Belgium
  • West-Vlaanderen
    • Roeselare, West-Vlaanderen, Belgium, 8800
      • AZ Delta

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

Eligible patients will be identified by retrospective screening of the hospital's electronic patients records using data search queries based on ICD-10 codes, lab results, keyword search in questionnaires, medical reports, notes, radiology reports & medical diagnoses corresponding to one of the PNH Risk factors described:

1. Patients with evidence of haemolysis without obvious cause
2. Patients with evidence of bone marrow dysfunction
3. Patients with thrombosis

Description

Inclusion Criteria:

• Patient ≥14 years of age
• At least 1 record encoded in the General Hospital Delta (AZ Delta) patient database (HiX) between 20 April 2018 and 1 March 2022
• A history or presence of at least one PNH risk factors identified following retrospective screening of electronic patient records

Exclusion Criteria:

• None

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
group 1; patients with evidence of haemolysis without obvious cause	Other: No intervention; No interventions
group 2; patients with evidence of bone marrow dysfunction (AA, MDS, unexplained cytopenia)	Other: No intervention; No interventions
group 3; patients with thrombosis	Other: No intervention; No interventions
group 4; patient group that needs to be eliminated from final high risk cohort: patients with cirrhosis, patients wit septic embolisms & embolisation	Other: No intervention; No interventions

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of patients identified with high risk for PNH clone and per type of screening criteria by developing a computational screening algorithm	A computational algorithm was employed for a retrospective EHR analysis, to identify high-risk cohorts of potential PNH patients who need treatment from all registered patients, with maximum ability to find relevant cases. Three main PNH risk sub-cohorts were constructed, representing patients exhibiting PNH risk factors such as hemolytic anemia (group 1), bone marrow dysfunction (group 2) and thrombosis (group 3). These sub-cohorts were validated by two hematologists who reviewed randomly selected patients, resulting in several iterations and query optimizations. Sub-cohorts were subsequently merged and refined into high risk cohorts that undergo further analysis and manual review. Two hematologists independently reviewed and rated medical records to achieve a manual risk stratification of the high risk cohorts.	2022
PNH risk factors translation into query codes that can be interpreted by a computer system for analysis	Three main PNH risk sub-cohorts were constructed, representing patients exhibiting PNH risk factors such as hemolytic anemia (group 1), bone marrow dysfunction (group 2) and thrombosis (group 3). To build these sub-cohorts, queries were created using a combination of structured and unstructured electronic health record (EHR) data, including lab results, diagnoses, medication, questionnaire data, text from medical and radiology reports, notes, and Internation Classification Codes (ICD-10). These sub-cohorts were validated by two hematologists who reviewed randomly selected patients, resulting in several iterations and query optimizations.	2022

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The number of patients at high risk for PNH, categorized by risk factor, across each medical department	To increase awareness of PNH risk factors by medical departments that need to consider PNH lab testing	2023

Collaborators and Investigators

• Sponsor: AZ Delta
• Collaborators: Alexion
• Investigators: Principal Investigator: Dries Deeren, MD, AZ Delta

Study record dates

Study Major Dates

• Study Start (Actual): April 20, 2018
• Primary Completion (Actual): March 1, 2022
• Study Completion (Actual): March 1, 2022

Study Registration Dates

• First Submitted: May 10, 2023
• First Submitted That Met QC Criteria: May 30, 2023
• First Posted (Actual): June 1, 2023

Study Record Updates

• Last Update Posted (Actual): June 2, 2023
• Last Update Submitted That Met QC Criteria: June 1, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Keywords: anemia; Thrombosis; aplastic anemia; PNH; myelodysplastic syndrome (MDS)
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Embolism and Thrombosis; Thrombosis
• Other Study ID Numbers: B1172022000017

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No