Natural History in Primary Mitochondrial Myopathies

Launched by CRISTINA DOMÍNGUEZ GONZÁLEZ · Dec 7, 2022

Keywords

ClinConnect Summary

This clinical trial is studying a condition called Primary Mitochondrial Myopathy, which affects how our cells produce energy. The goal of the study is to better understand how this disease progresses over time and to identify key factors that can help evaluate its severity. By gathering information on patients with a confirmed genetic diagnosis of this condition, researchers hope to provide insights that could help in future clinical trials and treatments.

To be eligible for this study, participants should be experiencing muscle-related symptoms such as tiredness during exercise, muscle pain, or weakness. They must also have a specific genetic mutation linked to this condition. There are no exclusions based on age or gender, which means anyone who meets the criteria can participate. Those who join the study can expect regular assessments to monitor their symptoms and overall health, contributing valuable information to the understanding of this rare disease.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Muscle symptoms: exercise intolerance and fatigue, myalgia, recurrent rhabdomyolysis, chronic progressive external ophthalmoplegia and/or muscular weakness
• • Primary mtDNA mutation or pathogenic mutations in nDNA, especially in genes related to mtDNA maintenance such as TK2, POLG, TWNK and RRM2B, among others.
• Exclusion Criteria:
• • None