Active clinical trials for "Mitochondrial Diseases"

This pilot study is a prospective, randomized clinical trial to evaluate the effect of anesthesia in the mitochondrial dysfunction patient.

This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders. The objective of the study is to assess the feasibility, acceptability and potential effectiveness of the Zamplo. The primary hypothesis is as follows: The Zamplo platform will significantly increase patient activation at 6 months post-baseline, defined as an individual's knowledge, skill, and confidence for managing their health and health care. The primary outcome is as follows: Patient activation following the use of Zamplo will serve as the primary outcome of interest and will be measured by the Patient Activation Measure (PAM) 13. The PAM 13 shows the degree of the patient's ability to manage their health with confidence by providing a total patient activation score. Brief Background: This project is a randomized controlled trial to use a mobile health journal, called Zamplo, to record patient reported outcomes (PROM) in patients with metabolic disorders. Zamplo is a software as a service (SaaS) digital platform on both iOS and Android platforms that allows real-time entry of patient symptoms and response to medications. It provides the patients with an interface to see their progress, store questions that they will ask at the next clinic visit, record their health data and use their data to engage in their health outcomes. MAGIC Clinic Ltd., which is the largest clinic in Alberta that manages metabolic disorders such as Fabry disease, Pompe disease, and Gaucher disease, will provide access to Zamplo to patients free-of-charge to evaluate its utility in managing the symptoms of their disease. Brief Study Design: The study is a two-armed randomized controlled design with 1:1 allocation to treatment (Zamplo app group) or control (usual care) arms, with assessments at four time points: baseline, 1 month, 3 months (primary outcome), 6 months and 12 months follow-up post-baseline. This is an open-label trial. The investigators intend to recruit 150 participants in this study, with 75 of them being controls. Inclusion Criteria: Adult patients with a diagnosis of metabolic disease Access to a smartphone with data connection Willingness to devote 10-15 mins of time in a day to log medications and notes Able to speak and write English sufficiently to complete questionnaires. Exclusion Criteria: Insufficient cognitive function to participate in the study The use of any electronic application requires some competency with the software on a cellphone, downloading the application and entering the data. Some patients who are elderly may not be familiar with this technology and would be excluded.

The purpose of this study is to determine whether therapy that has been shown to be beneficial for mitochondrial diseases is also beneficial for Chronic Fatigue Syndrome (CFS) patients. This study is a chart review of previous CFS patients who received daily conditioning exercise, a high protein diet and nutraceutical therapy (ENT). Prescribed nutraceutical supplements included alpha-lipoic acid, acetyl-L-carnitine, omega-3fatty acids (maxDHA), coenzyme Q10 (CoQ10), plus a multivitamin. Twelve CFS male and female patients between the ages of 20-70 years will be recruited to participate in this pilot study. Subjects will be eligible to participate if they meet the criteria for CFS of the Centers for Disease Control and Prevention (CDC). These include persistent, unexplained fatigue for at least 6 months, concurrent with four of the following: impaired memory/concentration, sore throat, new headaches, unrefreshing sleep, muscle pain, multi-joint pain, tender lymph nodes, and post-exertional malaise.

This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy. The Investigator will identify potential patients through existing medical records and one on-site visit.

Mitochondrial disorders are a group of inherited disorders causing malfunctional mitochondria. Mitochondria are found in every cell of the body, and the disorders therefore give symptoms from every tissue, especially those with high energy needs as the brain, heart and muscles. The disorders are highly disabling. The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the leg of patients affected by mitochondrial diseases. The hypothesis is that there can be a disrupted relationship between strength and CCSA.

The purpose of this study is to learn about the use of nutritional supplements in patients with mitochondrial disease.

Mitochondrial diseases are the most frequent metabolic diseases (2.5 persons among 10 000) and are clinically heterogeneous making diagnosis particularly challenging for clinicians. Molecular analysis of mitochondrial DNA (mtDNA) is a critical step in diagnosis and genetic counselling of respiratory chain defects. DNA sequencing remains the gold standard but it is time-consuming and fails to detect mutations that may be present at a low heteroplasmic level (20% or below); therefore the diagnosis is yet based on the detection of a few number of pathogenic mutations. The present study aims to evaluate the benefit and the cost of a diagnosis strategy based on the combined use of 2 techniques named "Surveyor Nuclease" and "Mitochip". Surveyor nuclease is a mismatch-specific DNA endonuclease that will be used for screening the entire mtDNA in order to identify heteroplasmic mutations. In absence of any identified mutation, another technique based on the use an oligonucleotide sequencing microarray (MitoChip) will be performed for the identification of homoplasmic mutations. Mitochip is an array-based sequencing platform for rapid and high-throughput analysis of mitochondrial DNA. The economical study will compare the cost of these techniques to the standard diagnosis method in term of direct and indirect costs

This is a developmental protocol to determine the MRI based 31P-MRS changes seen in subjects with mitochondrial myopathy using our dynamic exercise protocol and to identify the ideal variable(s) to represent mitochondrial function.

The purpose of the study is to use a new research imaging technique, a kind of magnetic resonance imaging (MRI), to measure important metabolic features of muscle, including mitochondrial function, in people with mitochondrial disease and in healthy individuals. (Mitochondria are tiny organelles that generate energy for the body.) It is hoped that this new strategy will help physicians to understand better the health problems of people with mitochondrial disease. Eventually, this could lead to better diagnostic and treatment approaches.

The purpose of the study is to investigate possible causes for Gulf War Syndrome. Gulf War Syndrome is associated with increased incidences of amyotrophic lateral sclerosis (Lou Gehrig's Disease), pain syndromes, muscle complaints that include fatigue and myalgias (muscle pain), as well as other neurological symptoms. Abnormalities in the part of the cell known as mitochondria have been delineated in Gulf War Syndrome. Mitochondria are the "power plants" of the body. Mitochondria take the food you eat and break the food down into a form of energy that the body can use. The investigators propose that Gulf War Syndrome is determined by a complex interaction of factors that interfere with mitochondrial function. This study will be the first investigation of mitochondrial function in Gulf War Syndrome. The investigators objective is to establish the cause for symptoms in affected veterans, develop testing that can more easily identify Gulf War Syndrome, and ultimately develop treatment protocols for Gulf War Syndrome.