RECRUITING

Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2020-10-21
Study Completion:2025-05-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT04419870

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:2 Months to 115 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Participants must be two months of age or older.
  2. 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. 3. At the time of enrollment, participants must have suspected or confirmed acute infection as defined by
  4. 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.
  5. 2. Laboratory confirmed positive testing for an infectious disease as performed at a local healthcare setting.
  6. 1. Participants must be two months of age or older.
  7. 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.
  8. 3. At the time of enrollment, participants may not have evidence of any acute infection.
  9. 1. Participants must be two months of age or older.
  10. 2. Participants must weigh greater than 4 kilograms.
  11. 3. Participants must be household or family member of a participant in Group 1 above.
  1. 1. Participants who are less than two months of age.
  2. 2. Participants who do not have mitochondrial disease.
  3. 3. Study team may decline to enroll a participant for other reasons based on clinical judgement.
  4. 1. Participants who are less than two months of age.
  5. 2. Participants who are not household or family members of Group 1.
  6. 3. Study team may decline to enroll a participant for other reasons based on clinical judgement.

Contacts and Locations

Study Contact

Shannon 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

Principal Investigator

Eliza M Gordon-Lipkin, M.D.
PRINCIPAL_INVESTIGATOR
National Human Genome Research Institute (NHGRI)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Human Genome Research Institute (NHGRI)

  • Eliza M Gordon-Lipkin, M.D., PRINCIPAL_INVESTIGATOR, National Human Genome Research Institute (NHGRI)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2020-10-21
Study Completion Date2025-05-01

Study Record Updates

Study Start Date2020-10-21
Study Completion Date2025-05-01

Terms related to this study

Keywords Provided by Researchers

  • Genetics
  • Phenotype
  • Virus
  • Natural History

Additional Relevant MeSH Terms

  • Mitochondrial Disease