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Active clinical trials for "Mitochondrial Diseases"

Results 41-50 of 104

RG2133 (2',3',5'-Tri-O-Acetyluridine) in Mitochondrial Disease

Mitochondrial Diseases

The objective of the study is to determine the safety and tolerability of RG2133 in patients with Mitochondrial Disease.

Terminated1 enrollment criteria

Phase 2 Study of EPI-743 in Children With Pearson Syndrome

Pearson Syndrome

Treatment of Pediatric Subjects with Pearson syndrome

Terminated10 enrollment criteria

A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release...

Mitochondrial Diseases

A long-term extension study to assess the safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) in children with inherited mitochondrial diseases who previously enrolled into study RP103-MITO-001 (NCT02023866).

Terminated25 enrollment criteria

Muscle OXPHOS and Nutrient Homeostasis

Mitochondrial DiseasesObesity

Investigators are recruiting adults (men and women, ages 18 to 65 years, inclusive) with a confirmed genetic diagnosis of mitochondrial disease. Investigators are also recruiting both obese and normal-weight healthy volunteers (men and women, ages 18 to 65 years, inclusive) without a family history of mitochondrial disease to compare to affected individuals. The study involves non-invasive MRI methods and glucose tests to focus on the relationship between mitochondrial disease, obesity, and the risk of diabetes. All study visit procedures will be completed within 2 days, which includes an overnight stay at the Hospital of the University of Pennsylvania. There are no study medications or sedations, and participants will be continually monitored during minimally-invasive procedures (e.g., blood draws). All participants will be able to receive compensation. Furthermore, it may be possible to provide reimbursement for travel, lodging, and meals for individuals with mitochondrial disease. Investigators hope that this research will contribute to the current knowledge of mitochondrial disease and that it will improve diagnostic and treatment approaches.

Active39 enrollment criteria

Mitochondrial Stress, Brain Imaging, and Epigenetics

Mitochondrial Diseases

The MiSBIE study collects biological, behavioral, psychosocial, neuropsychological, and brain imaging data in participants with either: normal mitochondrial function, individuals with the m.3243A>G mitochondrial DNA (mtDNA) mutation, and individuals a single large-scale mtDNA deletion. These defects induce mitochondrial allostatic load (MAL). The 2-day protocol, plus home-based data collection, will provide a comprehensive assessment of the multi-systemic dysregulation associated with MAL or mitochondrial dysfunction, and the link to physical and mental health-related symptoms. Aim 1: Determine the influence of MAL on systemic AL biomarkers. Aim 2: Establish the influence of MAL on stress reactivity profiles. Aim 3. Examine the association between MAL and psychological functioning.

Suspended11 enrollment criteria

Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers

MELAS SyndromeMitochondrial Respiratory Chain Deficiencies

The purpose of this First In Human study is to investigate the safety and tolerability of KL1333 after a single oral dose and to investigate the pharmacokinetic characteristics of KL1333 after a single oral dose.

Completed20 enrollment criteria

The Effect of Arginine and Citrulline Supplementation on Endothelial Dysfunction in Mitochondrial...

Mitochondrial Diseases

Mitochondrial diseases occur due to inadequate energy production. In addition, nitric oxide (NO) deficiency occurs in mitochondrial diseases. The endothelial layer of blood vessels functions in maintaining blood vessels patency through producing NO which relaxes vascular smooth muscles and therefore maintains the patency of blood vessels and adequate blood perfusion. In mitochondrial diseases, endothelial cells fail to perform their normal function in maintaining the patency of blood vessels (endothelial dysfunction) because of the inability to produce enough NO. Endothelial dysfunction results in decreased blood perfusion in different organs which can contribute to the complications seen in mitochondrial diseases. The amino acids arginine and citrulline act as NO precursors and can increase NO production. In this study we hypothesize that due to the inability to produce enough NO patients with mitochondrial diseases have endothelial dysfunction that will improve after arginine or citrulline supplementation. The investigators will assess endothelial function using peripheral arterial tonometry before and after arginine or citrulline supplementation. The investigators expect that arginine and citrulline supplementation will improve endothelium function. This will support the therapeutic use of arginine and citrulline in mitochondrial diseases.

Completed4 enrollment criteria

Low Residue Diet Study in Mitochondrial Disease

Mitochondrial Diseases

Slow movement of patients guts is referred to as intestinal dysmotility, and is increasingly recognised as a debilitating manifestation of mitochondrial disease both in adults and children. To date, symptoms of slow gut movements have been managed with laxatives and drugs that increase movement of the guts with variable results. A low residue diet is a form of low fibre diet (<10g fibre per day) that is used to minimise symptoms of poor movement of the guts. This reduces fecal volume and bulk, and hence gut workload, ensuring limited bowel activity and colonic rest. It has been shown to be well accepted in other conditions associated with slow gut movements. However, its role in patients with mitochondrial disease is unknown. The investigators are particularly interested in: Does a low residue diet (low fibre) cause a change in the number of stools per week and stool consistency? Is a low residue diet tolerated well and easy to comply with? Does a low residue diet reduce gut symptoms of abdominal pain, bloating, and constipation? Does a low residue diet improve quality of life and disease burden? Does a low residue diet affect the bacteria in the gut? Can we prove by X-ray that movement of food through the gut is slowed in patients with mitochondrial disease, and whether a low residue diet alters the speed of movement of food through the gut? Can a low residue diet change patients physical activity levels? Does a low reside diet change dietary patterns and food intake? Does a low residue diet alter anthropometrics, such as weight, body mass index and waist to hit ratio? Can a low residue diet improve kidney and liver function and lipid profile in blood samples? The investigators hope that by looking at these areas that a low residue diet may be able to improve patients slow gut movements, health, quality of life and disease burden.

Completed14 enrollment criteria

A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial...

Mitochondrial DiseasesMitochondrial Respiratory Chain Deficiencies2 more

This will be a double blind, randomised, placebo controlled, single and multiple oral dose study conducted in 3 parts: Part A, Part B and Part C. Part A and Part B include healthy volunteers only and will be completed before Part C including patients with primary mitochondrial disease will be initiated. The starting dose in the first cohort of Part A will be 25 mg. The dose level in the additional cohorts will be decided following review of data of the previous cohorts.

Completed27 enrollment criteria

Drug-drug Interaction Study of KL1333 in Healthy Subjects

Mitochondrial Disease

A Phase I, Open-label, Fixed-sequence, Crossover, Drug-drug Interaction Study to Investigate the Inhibition Potential of KL1333 on CYP1A2, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, and CYP3A4 in Healthy Subjects

Completed12 enrollment criteria
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