Active clinical trials for "Mitochondrial Diseases"

The overarching aim of this observational study is to characterize muscle mitochondrial defects in individuals harboring pathogenic mitochondrial DNA (mtDNA) mutations associated with an insulin-resistant phenotype. In a case-control design, individuals with pathogenic mtDNA mutations will be compared to controls matched for sex, age, and physical activity level. Participants will attend a screening visit and two experimental trials including: An oral glucose tolerance test A hyperinsulinemic-euglycemic clamp combined with measurements of femoral artery blood flow and arteriovenous difference of glucose Muscle biopsy samples

The main goal of the project is provison of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.

The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the solute carrier family 25 member 46 (SLC25A46) gene.

Oxygen is required for an optimal muscle function. In patients with diabetes mellitus, hyperglycemia can cause vascular complications. The endothelium (inter layer of the blood vessels) can be damaged leading to a reduced oxygen flow towards the muscle cells. Besides, it is possible that mitochondrial dysfunction is occuring leading to reduced extraction of oxygen. Both conditions will lead to a reduced flow of oxygen towards the muscle and this can have impact on the production of energy necessary for optimal functioning. In this study, the investigators will examine the functionality of the blood vessels (1) and the uptake of oxygen into the muscles (2) in patients with diabetes mellitus type 1 and type 2 (with and without vascular complications) compared to healthy persons.

The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.

This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks. Once consent is obtained, subjects will be asked to schedule an appointment with radiology to undergo the listed MRIs of the heart and/or muscle. Subjects will also be given instructions on how to use the video recording app on their personal devices, or study provided device. The subjects will be followed regularly over the course of two years, submitting video recordings of their movements and reporting to Mayo Clinic for MRIs as scheduled.

The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research is to: Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better. Further the development of future treatments. Participants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.

The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial diseases are a group of disorders caused by problems with the cell s ability to produce energy. Infection in individuals with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms. 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

The purpose of this study is to perform a "muscle phenotyping" magnetic resonance imaging (MRI) assessment in patients receiving clinical care at the Children's Hospital of Philadelphia (CHOP) for mitochondrial disease that is either suspected (based on clinical presentation) or has a definite genetic diagnosis. The MRI assessment quantifies skeletal muscle oxidative phosphorylation (OXPHOS) capacity. Investigators hope that this study will contribute to our current knowledge of mitochondrial diseases and this study will help create a new diagnostic tool for use in both clinical care and in clinical trials.

The investigators are studying patients with undefined mitochondrial diseases to identify genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA). Most patients with suspected or known mitochondrial diseases have no genetic confirmation. The investigators expect that evaluating tissue samples from patients with mitochondrial disorders will lead us to discover mutations in new or known genes causing mitochondrial dysfunction.