CovidResearchTrials by Shray Alag


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Report for D028361: Mitochondrial Diseases NIH

(Synonyms: Mitochondrial Diseases)

Developed by Shray Alag
Clinical Trial MeSH HPO Drug Gene SNP Protein Mutation


Correlated Drug Terms (0)


Name (Synonyms) Correlation

Correlated MeSH Terms (1)


Name (Synonyms) Correlation
D007239 Infection NIH 0.05

Correlated HPO Terms (0)


Name (Synonyms) Correlation

There is one clinical trial.

Clinical Trials


1 Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic

Background: Mitochondrial disease is a rare disorder. It can cause poor growth, developmental delays, muscle weakness, and other symptoms. The disease is usually inherited. It can be present at birth or develop later in life. Infection is a major cause of disease and death in people with this disease. Researchers want to learn more about how infection and the declining health of people who have this disease may be related to the COVID-19 pandemic. To do this, researchers will study the DNA of people who become ill with suspected or confirmed coronavirus. Their DNA will be compared to the DNA of their family members. Objective: To learn more about how genes may play a role in how COVID-19 affects people with mitochondrial disease. Eligibility: People age 2 months and older with mitochondrial disease and a suspected or confirmed diagnosis of COVID-19. Design: Participants will complete a questionnaire about their health history. Their medical records may be reviewed. They will give a blood sample. If the participant becomes ill, they may have a videoconference with a doctor or nurse at the NIH to perform a physical exam. They may be contacted after their illness to give updates on their health. They may be asked to give extra blood samples or complete extra questionnaires. Participants genetic data will be put into a database. The data will be labeled with a code and not their name. The data will be shared with other researchers. Participation lasts about 1 year. This may be extended if the participant is very ill.

NCT04419870 Mitochondrial Disease
MeSH:Infection Mitochondrial Diseases

Primary Outcomes

Description: To identify immune signatures that associate with host responses todisease that would allow improved patient stratification and identification of potential therapeutic targets to mitigate the severesymptoms and sequelae of infection in mitochondrial disease.

Measure: We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling.

Time: Undefined for natural history study

Secondary Outcomes

Description: to stratify severity of illness based on clinical factors (e.g. intensive care status, ventilatory support, clinical laboratory data, radiologyrecords)

Measure: Patient Medical Records for Data Abstraction

Time: Undefined for natural history study

Description: to understand functional status, healthcare resource access and other sociodynamic factors as they affect the mitochondrial disease community.

Measure: Patient centered outcomes data via questionnaires

Time: Undefined for natural history study


HPO Nodes