Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes

TL;DR

This paper discusses how a collaborative conference helped collect data on a rare mitochondrial DNA disorder, improving understanding and future treatment possibilities.

Contribution

The study introduces a novel model for rare disease data collection through patient-researcher partnerships.

Findings

Common psychiatric manifestations in SLSMDS patients were identified.

Variability in self-care and quality of life among affected individuals was described.

Potential biomarkers for SLSMDS were emphasized.

Abstract

The SLSMDS Research Network is a collaborative network comprising patient advocates, researchers, clinicians, and affected families seeking to improve outcomes for individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Building off of jointly developed research infrastructures, including a patient registry and natural history study, advocates and clinicians cohosted the SLSMDS Family and Scientific Conference, enabling the collection of patient data from an ultra-rare and geographically dispersed patient population. Here we describe the data collection procedures for single-time point laboratory assessments and patient reported outcomes for a subset of individuals with SLSMDS.

Utilizing a reproducible model of rare disease data collection, we expand our understanding of the common psychiatric manifestations, describe variability in terms of self-care and quality of life, and emphasize potential biomarkers for individuals with SLSMDS.

Our study describes how efficient patient-researcher partnerships can develop and sustain novel mechanisms to collect rare disease data, improve our understanding of the natural history of these disorders, and support development of future treatments.

The online version contains supplementary material available at 10.1186/s13023-025-03632-4.

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