Overview

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.

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
               1. 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
               2. 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.