View clinical trials related to Mitochondrial Diseases.
Filter by:Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide synthesis. MDS are phenotypically heterogeneous and usually classified as myopathic, encephalomyopathic, hepatocerebral or neurogastrointestinal. No efficacious therapy is available for any of these disorders. Affected individuals should have a comprehensive evaluation to assess the degree of involvement of different systems. Treatment is directed mainly toward providing symptomatic management. No treatment for MDS. Clinical trials studies and in vitro/in vivo research studies showed that the enhancement of the salvage pathway by increasing the availability of deoxyribonucleosides needed for each specific genetic defect prevents mtDNA depletion. Early recognition and immediate therapy to restore mitochondrial function could potentially improve clinical course. Confirming the benefit of deoxynucleosides as a safe and potentially efficacious therapy, will lead to the availability of the first specific and effective treatment for Mitochondria Depletion Disorders. In this phase II Trial a mix of Deoxynucleosides Pyrimidine (Deoxycytidine dC and Deoxythymidine dT) will be used as early treatment of MDS. The dose used has been already used in other clinical trials, and appears to effective and well-tolerated. The subjects included are children (0-18Y), with positive MDS diagnosis and express mutations in one of the following genes: POLG, C10orf2, RRM2B, MPV17, SUCLA2, SUCLG1, FBXL4. Subjects with MDS expressing neurological phenotypes dysfunction.
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 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.
Choosing to participate in an expanded access program is an important personal decision. Talk with your doctor to learn more about this program. The treating physician must contact StealthBiotherapeutics using the Expanded Access Program Contacts provided. Elamipretide will only be made available after careful review of an individual request submitted by the treating physician. The initiation and conduct of the treatment with elamipretide for an individual patient, and compliance with this treatment guideline, will be under the full and sole responsibility of the treating physician.
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
This is an open-label, multi-centre study in subjects with a genetically confirmed mitochondrial deoxyribonucleic acid (DNA) transfer ribonucleic acid (tRNA)Leu(UUR) m.3243A>G mutation who completed study KH176-202. In the KH176-203 study subjects will be receiving KH176 100 mg BID or KH176 50 mg bid in die (BID) (as determined by the investigator based on safety / tolerability considerations) for a year, thereby ensuring continued treatment with KH176 after study KH176-202. A final follow-up visit is scheduled 4 weeks after the intake of the last dose of study medication for patients not rolling over into the compassionate use program. Primary safety data and secondary efficacy (endpoint) data will be monitored and reviewed every three months by an independent Data Safety Monitoring Board (DSMB) to evaluate potential risks and benefits.
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.
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 ferredoxin reductase gene.
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.