Taking Steps Towards Understanding the Economic Impact of Ultra Rare Diseases: Using Patient Insights from an Autosomal Dominant Leukodystrophy (ADLD) Patient Registry to Develop a Framework for Assessing Economic Burden

Magtoto, Krizchelle Arellano (2024) Taking Steps Towards Understanding the Economic Impact of Ultra Rare Diseases: Using Patient Insights from an Autosomal Dominant Leukodystrophy (ADLD) Patient Registry to Develop a Framework for Assessing Economic Burden. Master Essay, University of Pittsburgh.

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Abstract

Background: Autosomal Dominant Leukodystrophy (ADLD) is an ultra-rare genetic disorder that affects the central nervous system. Understanding the epidemiology and healthcare utilization of ADLD patients is critical for improving patient outcomes and resource allocation.

Objectives: The first study aim is to evaluate and report novel information collected from the ADLD Center patient registry. aims to analyze the healthcare utilization patterns of ADLD patients in the United States and identify gaps in current research that hinder comprehensive care strategies. The second study aim is to create a framework intended for future analysis to quantify the direct healthcare utilization and costs for individuals with ADLD.

Methods: Data were obtained from a de-identified Excel sheet provided and given permission of use by the ADLD Center. The dataset includes demographic information and ADLD-specific patient symptom management experience and patient and caregiver and social experience. R Studio and Excel were used to visualize the information collected.

Results: The essay revealed that the symptoms and treatments of current ADLD patients are consistent with the published data. Novel data on the subjective experiences and demographic information on patients that completed the survey were also reported. A retrospective sum diagnosis-specific approach to analysis of direct healthcare costs with matched control approach is proposed.

Conclusion: The findings underscore the need for increased funding and resources dedicated to ADLD-related research and analysis to enable a more comprehensive understanding and fill the existing knowledge gaps on ADLD.

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Details

Item Type:	Other Thesis, Dissertation, or Long Paper (Master Essay)
Status:	Unpublished
Creators/Authors:	Creators Email Pitt Username ORCID Magtoto, Krizchelle Arellano kam557@pitt.edu kam557 0009-0003-9709-5324
Contributors:	Contribution Contributors Name Email Pitt Username ORCID Committee Chair Padiath, Quasar qpadiath@pitt.edu qpadiath UNSPECIFIED Committee Member Buchanich, Jeanine jeanine@pitt.edu jeanine UNSPECIFIED Committee Member Donohue, Julie jdonohue@pitt.edu jdonohue UNSPECIFIED
Date:	26 June 2024
Date Type:	Completion
Submission Date:	21 June 2024
Access Restriction:	2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages:	57
Institution:	University of Pittsburgh
Schools and Programs:	School of Public Health > Public Health Genetics
Degree:	MPH - Master of Public Health
Thesis Type:	Master Essay
Refereed:	Yes
Uncontrolled Keywords:	autosomal dominant leukodystrophy, adld, direct health care utilization
Date Deposited:	27 Jun 2024 02:51
Last Modified:	27 Jun 2024 02:51
URI:	http://d-scholarship.pitt.edu/id/eprint/46613

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