View clinical trials related to Mitochondrial Diseases.
Filter by:The study objectives are to evaluate the safety of a single intravenous (IV) infusion of autologous CD34+ cells enriched with placenta-derived allogeneic mitochondria in participant with primary mitochondrial disease associated with mitochondrial DNA mutations or deletions. 6 participants aged from 4 to 18 years old on the day of screening visit with primary mitochondrial disease associated with mitochondrial DNA mutations or deletions will be enrolled.
Mitochondrial diseases (MDs) are the commonest group of inborn errors resulting from primary dysfunction of mitochondrial respiratory chain (MRC). High phenolics-containing extra-virgin olive oil (EVOO) can be one of the potential dietary supplements for the treatment of MD. Previous reports demonstrated that phenolics including oleuropein, oleocanthal, hydroxytyrosol and tyrosol found in EVOO have strong antioxidant properties against the oxidative stress in brain tissue and showed a protective effect on mitochondria by restoring mitochondrial enzymatic activities. This proposed study is an open-label pilot/ feasibility clinical trial using hydroxytyrosol (HT) as dietary supplements in a cohort of 12 MD patients recruited from the Hong Kong Children's Hospital (HKCH). The objective is to explore the longitudinal effect of receiving hydroxytyrosol (HT) as dietary supplements over a 12-month period and the change on a 6-month period after withdrawal. The applicability of the outcome measures will be evaluated in the current trial for future clinical studies and obtain relevant data for the next phase of the clinical trial on hydroxytyrosol (HT) efficacy. Besides, the tolerability of hydroxytyrosol (HT) in MD patients will be evaluated. The primary outcome measure is the functional assessment of the patient's clinical outcomes by International Paediatric Mitochondrial Disease Score (IPMDS). Secondary outcome measures included the measurement of biochemical and radiological parameters. Besides, tolerability and quality of life of the subjects will be determined. Relevant data including the feasibility of subject recruitment, withdrawal rate, feasibility of data collection of outcome measures, longitudinal effect of hydroxytyrosol (HT) on the outcome measures in the trial can be collected and analysed in this pilot study providing important information for the future clinical trials. The ultimate goal is to develop effective therapies to lower mortality, improve the clinical outcomes and quality of life in MD patients.
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 how infection and the declining health of people who have this disease may be related to the COVID-19 pandemic. To do this, researchers will study the DNA of people who become ill with suspected or confirmed coronavirus. Their DNA will be compared to the DNA of their family members. Objective: To learn more about how genes may play a role in how COVID-19 affects people with mitochondrial disease. Eligibility: People age 2 months and older with mitochondrial disease and a suspected or confirmed diagnosis of COVID-19.<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.
This is a parallel-arm, double-blind, placebo-controlled study with a screening phase that includes a 28-day run-in phase to establish baseline seizure frequency, followed by a 24-week, randomized, placebo-controlled phase. After completion of the randomized, placebo-controlled phase, participants may enter a 48-week, long-term, extension phase during which they will receive open-label treatment with vatiquinone.
Researchers in the Neurodevelopmental Division at Phoenix Children's Hospital are conducting a study about mitochondrial function in children with autism spectrum disorder (ASD). The study involves up to 5 visits to Phoenix Children's Hospital with fasting blood draws, behavioral assessments, and/or questionnaires. Other samples may be collected when appropriate. This study is currently recruiting. There is no cost for visits or study-related exams.
This study evaluates metabolic and functional parameters in the skeletal muscle of Parkinson's disease patients for comparison to a set of healthy age-matched controls.
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.
Mitochondrial diseases, estimated prevalence 1 in 4,300 adults, is caused by pathogenic mutations in genes finally encoding for mitochondrial proteins of the various enzyme complexes of the OXPHOS. Among these mutations, the 3243A>G nucleotide change in the mitochondrially encoded transfer RNALeu(UUR) leucine 1 gene (MT TL 1) is the most prevalent one. The OXPHOS dysfunction resulting from such mutations leads to increased production of reactive oxygen species (ROS), ultimately leading to irreversible oxidative damage of macromolecules, or to more selective and reversible redox modulation of cell signaling that may impact (adult) neurogenesis. Despite advances in the understanding of mitochondrial disorders, treatment options are extremely limited and, to date, largely supportive. Therefore, there is an urgent need for novel treatments. KH176, a new active pharmaceutical ingredient (API), is an orally bio-available small molecule under development for the treatment of these disorders (see Section 1.4). The current study will further evaluate the effect of KH176 in various cognitive domains and evaluate the effect of different doses of KH176 (See Section 1.5). In view of the growing recognition of the importance of mitochondrial function in maintaining cognitive processes in the brain, as well as the understanding of the safety profile and pharmacokinetics of KH176 following the two clinical studies described above, a more detailed study is indicated of the effects of KH176 in various cognitive domains, using the confirmed safe and well-tolerated KH176 dose of 100 mg bid, as well as a lower dose of 50 mg bid. The primary objective is an evaluation of KH176 in the attention domain of cognitive functioning, as assessed by the visual identification test score of the Cogstate computerised cognitive testing battery.
The Investigator proposes to record the fetal and postnatal development of children conceived using Mitochondrial Donation (MD) and to perform expert assessment of development at 18 months (corrected for gestational age) using the internationally validated Bayley-III developmental assessment tool.
Past mitochondrial disease treatment studies have been unsuccessful in determining treatment efficacy, and a major factor has been the lack of validated biomarkers in mitochondrial myopathy (MM). There is currently a growing number of potential new treatments to be tested through MM clinical intervention trials, which has created a pressing need for quantitative biomarkers that reliably reflect MM disease severity, progression, and therapeutic response. The purpose of the study is to measure the efficacy of an electrochemical oxygen nanosensor to measure in vivo mitochondrial function in human muscle tissue, and its ability to discriminate MM patients from healthy volunteers. The data and results from this nanosensor study may contribute to current and future research, including improved diagnostic and therapeutic approaches for patients with mitochondrial disease.