The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Jan 29, 2013

Keywords

ClinConnect Summary

The NIH MINI Study is a research project aimed at understanding how infections affect individuals with mitochondrial diseases, which are disorders that impact the body’s ability to produce energy. The study focuses on how these infections can lead to worsening symptoms, especially in the nervous system. While the study does not involve testing new treatments, the information gathered may help develop future therapies for these conditions.

To participate, you or your child must be at least 12 months old and have a confirmed diagnosis of a mitochondrial disease. Healthy volunteers over the age of 2 are also welcome to join. Participants will visit the National Institutes of Health in Maryland for a few days, where doctors will conduct various tests and evaluations, including blood and urine samples. If traveling is difficult, remote participation options are available, allowing for assessments through telehealth and local labs. This study is a chance to contribute to important research that could improve understanding and treatment of mitochondrial diseases in the future.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• In order to be eligible to paraticipant in this study, an individual must meet all of the following criteria:
• • 1. Stated willingness to comply with all study procedures and availability for the duration of the study.
• • 2. Male or female, \>12 months of age.
• • 3. Diagnosis of mitochondrial disease with documented molecular evidence of disease.
• • 4. Healthy volunteers of any gender and ethnicity \>2 years of age may also be eligible to enroll in the protocol. Healthy volunteers may be from the local community, or family members of patients with MtD.
• • 5. Agreement to adhere to Lifestyle considerations throughout study duration.
• • 6. Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.
• EXCLUSION CRITERIA:
• • 1. Lack of a local MtD provider (For participants with MtD only)
• • 2. \<12 months of age
• • 3. Pregnancy or lactation
• • 4. Discretion and clinical judgement of the Principal Investigator