This study is currently recruiting participants.
Number
13-HG-0053
Sponsoring Institute
National Human Genome Research Institute (NHGRI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 2 Years Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Mitochondrial Disorders; Leigh Disease; Subacute Necrotizing Encephalopathy; Disorders of Oxidative Phosphorylation (OXPHOS); Natural History
Recruitment Keyword(s)
Condition(s)
Oxidative Phosphorylation Deficiencies; Electron Transport Chain Disorders, Mitochondrial; Mitochondrial Disorders; Leigh Disease
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Human Genome Research Institute
Goals:
The main goal of our study is to understand the relationship between infection and clinical decline in patients with mitochondrial disease. Mitochondrial diseases can affect many different parts of the body, including the immune system and its ability to respond to infection. Therefore, we perform a comprehensive evaluation of participants including a detailed immunologic assessment.
We are not testing any new medicine or procedure to treat or cure IEM or mitochondrial diseases. However, by understanding the relationship between infection and mitochondrial disease, we hope to develop treatments in the future. At the NIH, we are interested in research. Although we do provide advice and care for people enrolled in our study, we are not able to take over the long-term care of participants. To enroll in our study, you (your child) must already have a confirmed diagnosis of a mitochondrial disease. We are not able to provide a "first time" diagnosis or regular metabolic care.
What is involved?
Once you contact our team members, you will be asked to provide medical records to determine eligibility. Our team will review the records and notify you if you (your child is) eligible to join the study.
-Onsite participation: You (your child) will be invited to visit the National Institutes of Health in Bethesda, Maryland. This first visit will typically last 3-5 days. Depending on the level of participation, additional visits may be requested. Our team members will work with you and your child to coordinate the supports needed during your stay at NIH. Study participants may be seen in the clinic, day hospital or inpatient setting.
When you (your child) arrive at the NIH we will have an informed consent discussion to confirm willingness to participate, answer questions and review the risks and benefits of the study. You (your child) will meet with a physician who will ask about medical and family history and do a physical exam (like in any doctor's office). We will ask all study participants to allow us to collect urine, draw blood, swab your (your child s) nose, and perform a detailed assessment. We may suggest additional evaluations or specialty consults for some participants based on clinical manifestations, age and level of independence. We will explain these studies to you (your child). They may include items such as- imaging studies, DEXA or MRI scan, energy expenditure or metabolic testing, developmental neuropsychological logical testing, physiatry, ophthalmology, or other consults. In some cases, we may request a skin biopsy (if one has not been done). You will receive the results of your (your child's) clinical testing and notes from any clinical consultations.
-Remote participation: If you (your child) are unable to travel, you (your child) may be enrolled remotely for records review, questionnaires, and telethealth exams. Blood or other samples collection may be requested in coordination with local providers or lab testing companies
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INCLUSION and EXCLUSION CRITERIA Patients of any gender and ethnicity age 2 years and older with a diagnosis of MD or a related disorder are eligible to enroll in this protocol. Patients will be diagnosed based on a determination of several parameters that may include DNA mutation or enzyme analysis known or pending. Participants need to be medically managed by a local provider. We will obtain written consent from the patient to review medical records from their home physician to confirm eligibility. In certain situations we may elect to enroll unaffected first degree family members of patients with MD for the delineation of a patient s phenotype. Healthy volunteers of any gender and ethnicity 2 years and older may also be eligible to enroll in the protocol. Healthy volunteers may be from the local community, or family members of patients with MD. Patient and healthy volunteer exclusion criteria include: less than 2 years of age. The Principal Investigator may decline to enroll a patient for other reasons based on clinical judgment. Other criteria that may lead to exclusion include, for example, residing in a hospital. Furthermore for MD patients, any patient who does not have a regular/local physician with expertise in mitochondrial disease and/or a family physician, pediatrician, or internist will also be excluded. For MD patients, a study team member will obtain pertinent medical history and may contact each potential patient s local metabolic/specialty physician to discuss the details of their last visit, and their current clinical status to determine whether the patient is an appropriate candidate for this protocol. Closer to a scheduled visit, the study team will confirm the details of the patient s medications. Lastly, each family will be contacted by a member of the study staff prior to a pending inpatient admission to confirm that the patient is metabolically stable and ready to visit the NIH in a state of relative health, with an adequate supply of special formulas, medications and supplements.
Patients of any gender and ethnicity age 2 years and older with a diagnosis of MD or a related disorder are eligible to enroll in this protocol. Patients will be diagnosed based on a determination of several parameters that may include DNA mutation or enzyme analysis known or pending. Participants need to be medically managed by a local provider. We will obtain written consent from the patient to review medical records from their home physician to confirm eligibility. In certain situations we may elect to enroll unaffected first degree family members of patients with MD for the delineation of a patient s phenotype.
Healthy volunteers of any gender and ethnicity 2 years and older may also be eligible to enroll in the protocol. Healthy volunteers may be from the local community, or family members of patients with MD.
Patient and healthy volunteer exclusion criteria include: less than 2 years of age. The Principal Investigator may decline to enroll a patient for other reasons based on clinical judgment. Other criteria that may lead to exclusion include, for example, residing in a hospital. Furthermore for MD patients, any patient who does not have a regular/local physician with expertise in mitochondrial disease and/or a family physician, pediatrician, or internist will also be excluded. For MD patients, a study team member will obtain pertinent medical history and may contact each potential patient s local metabolic/specialty physician to discuss the details of their last visit, and their current clinical status to determine whether the patient is an appropriate candidate for this protocol. Closer to a scheduled visit, the study team will confirm the details of the patient s medications.
Lastly, each family will be contacted by a member of the study staff prior to a pending inpatient admission to confirm that the patient is metabolically stable and ready to visit the NIH in a state of relative health, with an adequate supply of special formulas, medications and
supplements.
Principal Investigator
Referral Contact
For more information: