Acute Infection in Mitochondrial Disease: Metabolism Infection and Immunity During the COVID19 Pandemic

STATUS

Recruiting
days left to enroll

21
participants needed

200
sponsor

National Human Genome Research Institute (NHGRI)

Send

Updated on 19 February 2024

See if I qualify

fever

diarrhea

vomiting

coronavirus

cough

fatigue

covid-19

acute illness

rare diseases

muscle biopsy

sore throat

vomit

muscle weakness

biochemical testing

mitochondrial diseases

Summary

Show definitions

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.<TAB>

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.

Description

Infection is a major cause of morbidity and mortality individuals with mitochondrial disease, frequently triggering metabolic decompensation, multiorgan dysfunction, and neurologic deterioration. In the context of the recent COVID19 pandemic, people with mitochondrial disease are at increased risk for severe disease and poor outcomes if infected. However, the mechanisms for this link between infection and clinical decline are incompletely understood. Given that people with mitochondrial disease are particularly susceptible to infection and may experience delayed recovery, we hypothesize that this is in part due to immune factors that influence host-pathogen interactions. The purpose of this protocol is to collect biological specimens to identify immune signatures that contribute to the phenotype of infection and outcomes in patients with mitochondrial disease who become ill during the COVID19 pandemic. In order to compare these cases with others of similar genetic backgrounds and environmental exposures, we will also collect specimens from family members. We will then examine how these signatures correlate with comprehensive quantifiable clinical measures throughout the course of disease, from presenting symptoms, through acute decompensation, stabilization and convalescence. While this protocol is developed during the COVID-19 pandemic with a focus on a specific infectious pathogen, we hope that this study will extend beyond the pandemic in an effort to more broadly understand acute infectious illness in patients with mitochondrial disease. Additionally, it will serve as a remote adjunct to the NIH MINI Study, a natural history study focused on the immunophenotype of mitochondrial disease that is conducted at the NIH Clinical Center.

Details

Condition	Metabolic disorder, Mitochondrial Diseases
Age	1years - 100years
Clinical Study Identifier	NCT04419870
Sponsor	National Human Genome Research Institute (NHGRI)
Last Modified on	19 February 2024

How understandable was the trial content above?

Hard to understand

Easy to understand

Eligibility		Yes	No	Not Sure
Inclusion Criteria
	In order to be eligible to participate in this study, an individual must meet
	all of the following criteria
	Group 1
	Participants must be two months of age or older
	Participants must have a diagnosis of mitochondrial disease based on a determination by a physician with expertise in genetics and/or neurology. Supportive evidence may include genetic testing, muscle biopsy, biochemical testing, neuroimaging or enzyme analysis consistent with mitochondrial disease
	Participants must have suspected or confirmed COVID-19 as defined by
	New onset of any of the following symptoms after January 2020 without an alternative diagnosis: fever, cough, shortness of breath, fatigue, sore throat, rhinorrhea, musculoskeletal pain, vomiting, diarrhea, anosmia, neurologic decline
	AND report that testing for COVID-19/SARS-COV-2 is clinically indicated based
	on evaluation by a healthcare provider
	OR
	\. Laboratory confirmed positive testing for COVID-19/SARS-Cov-2 performed at
	a local healthcare setting
	Note: It is well recognized at the time of this protocol that testing for
	COVID-19/SARS-Cov-2 is not consistently available or efficient throughout the
	United States, particularly in low healthcare resource settings. In order to
	avoid bias by limiting recruitment to only those individuals with access to
	these healthcare resources, inclusion criteria for participants with acute
	illness have intentionally been kept
	broad. Participants in Group 1 who are initially suspected to have COVID-19
	but are later found to have an alternative infectious illness will be used for
	comparison studies. Please also note that there is no minimum weight
	requirement for Group 1. However, there is a minimum weight requirement for
	phlebotomy procedures (See Sections 1.2 and 7.3.1). Group 1 participants who
	do not meet minimum weight requirements may enroll for records and
	questionnaires only
	Group 2
	Participants must be two months of age or older
	Participants must weigh greater than 4 kilograms
	Participants must be genetically related family member of a participant in Group 1 above
Exclusion Criteria
	An individual who meets any of the following criteria will be excluded from
	participation in this study
	Group 1
	Participants who are less than two months of age
	Participants who do not have mitochondrial disease
	Study team may decline to enroll a participant for other reasons based on clinical judgement
	Group 2
	Participants who are less than two months of age
	Participants who are not family members of Group 1
	Study team may decline to enroll a participant for other reasons based on clinical judgement

How to participate?

Step 1 Connect with a study center

Send a message

Enter your contact details to connect with study team

First name*

Last name*

Email*

Phone number*

Other language

I am at least 18 years old.

By sending a message, I agree to share my information with the study team for the selected site and consent to receive emails and text messages for trial updates, notifications, and related communication. TrialX values your privacy; your information will be handled in accordance with our Privacy Policy

Step 2 Get screened

Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

Step 3 Enroll in the clinical study

If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

Learn more

Step 4 Get your study results

Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

Learn more

Similar trials to consider

Cardio-Oncology Registry

0
19 Feb, 2024
1 site

PROtocol of Metabolic and Cryptogenic livEr Disease regisTry for intEgration of Omic Studies

0
19 Feb, 2024
1 site

Hyperlactatemia During and After Tumorcraniotomy

0
19 Feb, 2024
1 site

Non-randomized Prospective Comparison Between SASI Bipartition and RYGB

0
19 Feb, 2024
1 site

Gut Microbiota SCFAs and Glucolipid Metabolism in Pregnant Women With Abnormal Fetal Size and Their Newborns

0
19 Feb, 2024
1 site

Browse trials for

mitochondrial diseases

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Acute Infection in Mitochondrial Disease: Metabolism Infection and Immunity During the COVID19 Pandemic