Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity

NCT04419870 | Recruiting

• 2 other identifiers: 20012020-HG-0120
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

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 these infections and the declining health of people who have this disease. To do this, researchers will study the DNA of people who become ill. Their DNA will be compared to the DNA of their household/family members. Objective: To learn more about how genes affect people with mitochondrial disease. Eligibility: People age 2 months and older with mitochondrial disease and their household/family members. .\<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.

Conditions

Mitochondrial Disease

Keywords

Genetics; Phenotype; Virus; Natural History

Outcome Measures

Primary Outcomes (1)

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

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

  Undefined for natural history study

Secondary Outcomes (2)

• Patient Medical Records for Data Abstraction

  Undefined for natural history study

• Patient centered outcomes data via questionnaires

  Undefined for natural history study

Study Arms (3)

Group 1a

Patients with mitochondrial disease who are acutely ill.

Group 1b

Patients with mitochondrial disease who are NOT ill with acute infection.

Group 2

Family members of patients with mitochondrial disease in Group 1.

Eligibility Criteria

• Age: 2 Months - 115 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Three study populations will be recruited. (Group 1a) Participants with mitochondrial disease in any location who are two months of age or older and become acutely ill; (Group 1b) Participants with mitochondrial disease in any location who are two months of age or older and are not acutely ill (Group 2) Household and family members of group 1 to serve as controls. We anticipate approximately 50 participants in group 1 and up to 150 participants in Group 2.

You may qualify if:

• In order to be eligible to participate in this study, an individual must meet all of the following
• criteria:
• Group 1a
• 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.
• At the time of enrollment, participants must have suspected or confirmed acute infection as defined by
• 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.
• Laboratory confirmed positive testing for an infectious disease as performed at a local healthcare setting.
• Group 1b
• 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.
• 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
• Participants must be two months of age or older.

You may not qualify if:

• An individual who meets any of the following criteria will be excluded from participation in this study:
• Groups 1 a\&b
• 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 household or family members of Group 1.
• Study team may decline to enroll a participant for other reasons based on clinical judgement.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Mitochondrial Diseases; Virus Diseases

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Infections

Study Officials

• Eliza M Gordon-Lipkin, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Shannon K Kruk, R.N.

CONTACT

(301) 451-9145; shannon.kruk@nih.gov

Eliza M Gordon-Lipkin, M.D.

CONTACT

(301) 204-4028; eliza.gordon-lipkin@nih.gov

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 5, 2020
• First Posted: June 9, 2020
• Study Start: October 21, 2020
• Primary Completion: May 1, 2026
• Study Completion: May 1, 2026
• Last Updated: April 28, 2026

Record last verified: 2026-04-24

Locations

US (1)