Objectives
This study seeks to query EHR and PHIS data across a network of participating institutions in an automated fashion to develop a large-scale library of clinically pertinent natural history data for individuals with a confirmed diagnosis of leukodystrophy. Data collection and analysis methodologies will undergo face validation, inter-rater reliability, reproducibility, longitudinal stability, internal validation and construct validity under the careful oversight of a Data Integration Core (DIC) based at the Children's Hospital of Philadelphia.
This project is expected to generate a robust natural history data set that can be further queried to better characterize known disease progression or even identify new trends and/or milestones that may hold significance in refining approaches to routine clinical care, as well as developing more meaningful outcome measures for future clinical trials. It is anticipated that an automated approach, as opposed to more traditional chart search and abstraction approaches, will allow investigators to identify a far larger cohort and more efficiently extract the data elements of interest.
Study Design
This is an observational protocol that seeks to query clinical data both retrospectively and prospectively. Data abstraction algorithms will be developed by the GLIA- CTN Data Integration Core (DIC) at the Children’s Hospital of Philadelphia and shared with participating institutions for approval and deployment in their local EHR. The project will initially be limited to institutions using Epic due to potential barriers around recoding programming language for use within non- EPIC EHR platforms. Investigators hope to be able to include institutions using non-EPIC platforms in a future phase of this project.
The project will also include analyses of data extracted from the Pediatric Health Information System (PHIS), a nationwide administrative database comprising inpatient, emergency department, ambulatory surgery, and other clinical data from 52 not-for-profit, tertiary care pediatric hospitals, to assess health care utilization and cost metrics within subject cohorts at Children’s Hospital of Philadelphia and Primary Children’s Medical Center/University of Utah Health, and evaluate the degree to which these are accurately captured by PHIS.
This protocol was approved with a Waiver of Consent (45 CFR 46.116(f)(3)), a Waiver of Assent (45 CFR 46.408(a)), and a Waiver of HIPAA Authorization (45 CFR 164.512(i)(2)(ii)).
Participants
The overall study population will include patients of any age with a confirmed leukodystrophy diagnosis followed at any of the participating pediatric institutions, including the Children's Hospital of Philadelphia, across the United States. The study will ultimately include approximately 20,000 evaluable individuals with a clinically confirmed leukodystrophy diagnosis.
Inclusion Criteria
- Male or female of any age;
- Diagnosis of leukodystrophy confirmed by molecular and/or biochemical;
- Minimum of two (2) clinical encounters available in the subject’s EMR.
Exclusion Criteria
- Insufficient and/or inconclusive evidence of a confirmed leukodystrophy diagnosis based on information available in a subject's EMR;
- Fewer than two (2) clinical encounters available in the subject's EMR
Study Activities
Study procedures are limited to retrospective and prospective abstraction and review of charts from the EHR at eight major pediatric care centers across the United States. Additionally, PHIS data will be queried at the Children’s Hospital of Philadelphia and Primary Children’s Medical Center/University of Utah Health.