Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 400
- 试验地点
- 1
- 主要终点
- We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling.
研究概览
简要总结
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.
详细描述
Study Description:
A prospective longitudinal natural history study of acute illness in participants with Mitochondrial Disease and household/family members.
Objectives:
Primary Objectives: 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.
Secondary Objectives:
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Months 至 115 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •INCLUSION CRITERIA:
- •In order to be eligible to participate in this study, an individual must meet all of the following
- •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, SARS 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.
- •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
- •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.
- •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.
- •Participants must be two months of age or older.
- •Participants must weigh greater than 4 kilograms.
- •Participants must be household or family member of a participant in Group 1 above.
排除标准
- •An individual who meets any of the following criteria will be excluded from participation in this study:
- •Groups 1a&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.
- •Participants who are less than two months of age.
- •Participants who are not household or family members of Group
- •Study team may decline to enroll a participant for other reasons based on clinical judgement.
研究组 & 干预措施
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.
Group 1a
Patients with mitochondrial disease who are acutely ill.
结局指标
主要结局
We will perform whole blood transcriptomic analysis, humoral response profiling and soluble mediator profiling.
时间窗: Undefined for natural history study
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.
次要结局
- Patient Medical Records for Data Abstraction(Undefined for natural history study)
- Patient centered outcomes data via questionnaires(Undefined for natural history study)