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

ABSTRACT:

Background

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.

Results

Utilizing a reproducible model of rare disease data

SUBMITTER: MacMullen LE 

PROVIDER: S-EPMC12323275 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature