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Protocol Details

Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

20-HG-0120

Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Mo
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

Genetics;
Phenotype;
Virus;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Mitochondrial Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Human Genome Research Institute

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.

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Eligibility

INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following

criteria:

Group 1a

1. Participants must be two months of age or older.

2. 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.

3. At the time of enrollment, participants must have suspected or confirmed acute infection as defined by

a. New onset of any of the following symptoms within one month of enrollment 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 infection (e.g. respiratory viral panel, SARS15 COV-2 testing) is clinically indicated based on evaluation by a healthcare provider.

OR

b. Laboratory confirmed positive testing for an infectious disease as performed at a local healthcare setting.

Note: At the time of initial approval of this protocol, testing for COVID-19/SARSCov-2 was not consistently available. 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 were intentionally kept broad. Participants in Group 1 who were initially suspected to have COVID-19 but later found to have an alternative infectious illness were used for comparison studies. In 2023, after the end of the COVID-19 emergency, inclusion criteria for this study were broadened to focus on all acute infections in mitochondrial disease in order to characterize relationships between specific pathogens, immunophenotypes and clinical phenotypes in mitochondrial disease. Please also note that there is no minimum weight requirement for Group 1. However, there is a minimum weight requirement for phlebotomy procedures. Group 1 participants who do not meet minimum weight requirements may enroll for records and questionnaires only.

Group 1b

1. Participants must be two months of age or older.

2. 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.

3. At the time of enrollment, participants may not have evidence of any acute infection.

Note: Some participants may initially enroll in Group 1b and later experience acute infection, in which case they may be moved from Group 1b to Group 1a.

Group 2

1. Participants must be two months of age or older.

2. Participants must weigh greater than 4 kilograms.

3. Participants must be household or 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:

Groups 1 a&b

1. Participants who are less than two months of age.

2. Participants who do not have mitochondrial disease.

3. Study team may decline to enroll a participant for other reasons based on clinical judgement.

Group 2

1. Participants who are less than two months of age.

2. Participants who are not household or family members of Group 1.

3. Study team may decline to enroll a participant for other reasons based on clinical judgement.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Eliza M. Gordon-Lipkin, M.D.
National Human Genome Research Institute (NHGRI)
NIHBC 10 - CRC BG RM 5-1485
10 CENTER DR
BETHESDA MD 20892
(301) 204-4028
eliza.gordon-lipkin@nih.gov

Shannon Kruk, R.N.
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 10
Room 5-1485A
10 Center Drive
Bethesda, Maryland 20892
(301) 451-9145
shannon.kruk@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT04419870

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