Mitochondrial myopathy – European Clinical Trials Information Network https://clinicaltrials.eu Bridging Patients with Clinical Trials Wed, 24 Jun 2026 04:15:51 +0000 en-US hourly 1 https://wordpress.org/?v=7.0 https://clinicaltrials.eu/wp-content/uploads/2024/12/cropped-EU_icon-32x32.png Mitochondrial myopathy – European Clinical Trials Information Network https://clinicaltrials.eu 32 32 A study testing sonlicromanol in adults with genetically confirmed mitochondrial DNA 3243A>G variant causing mitochondrial disease https://clinicaltrials.eu/trial/a-study-testing-sonlicromanol-in-adults-with-genetically-confirmed-mitochondrial-dna-3243ag-variant-causing-mitochondrial-disease/ Wed, 29 Apr 2026 15:08:14 +0000 https://clinicaltrials.eu/trial/a-study-testing-sonlicromanol-in-adults-with-genetically-confirmed-mitochondrial-dna-3243ag-variant-causing-mitochondrial-disease/ This study involves people with Primary Mitochondrial Disease caused by a specific genetic change called the mitochondrial DNA 3243A>G variant. This genetic variant can lead to different forms of the disease, including MIDD (a form that can affect diabetes and hearing), MELAS (a condition that can cause stroke-like episodes and other symptoms), and conditions affecting multiple body systems. People with this genetic change often experience ongoing tiredness and muscle weakness that affects their daily activities. The study will test a medication called sonlicromanol, which is also known by its code name KH176, and compare it to a placebo to see if it helps improve symptoms.

The purpose of this study is to find out if sonlicromanol can help reduce physical tiredness and improve muscle strength and balance in adults with this genetic form of mitochondrial disease. The study will also look at whether the medication affects quality of life and overall well-being. Participants will take either sonlicromanol tablets or placebo tablets by mouth for 52 weeks. The maximum daily dose of the study medication is 180 milligrams.

During the study, participants will complete questionnaires on electronic devices to report how they are feeling, including questions about tiredness, daily activities, mood, and overall health. They will also perform a physical test called the 5 Times Sit-to-Stand Test, which measures how long it takes to stand up and sit down five times in a row. This test helps assess leg muscle strength and balance. Additional assessments will include heart examinations using standard echocardiography or cardiac MRI to check heart wall thickness. Participants will need to maintain their usual exercise routine throughout the study and attend regular appointments for safety checks and to monitor how well the treatment is working.

]]> Study on the Effect and Safety of Autologous Mesoangioblasts for Patients with Mitochondrial Myopathy Due to m.3243A>G Mutation https://clinicaltrials.eu/trial/study-on-the-effect-and-safety-of-autologous-mesoangioblasts-for-patients-with-mitochondrial-myopathy-due-to-m-3243ag-mutation/ Wed, 29 Apr 2026 14:57:34 +0000 https://clinicaltrials.eu/trial/study-on-the-effect-and-safety-of-autologous-mesoangioblasts-for-patients-with-mitochondrial-myopathy-due-to-m-3243ag-mutation/ This clinical trial is focused on studying a condition known as G mutation, which leads to a disease called . This disease affects the muscles and can cause weakness and fatigue. The study will use a treatment involving , which are special cells derived from a patient’s own muscle tissue. These cells are prepared as a and are also known by the code name .

The purpose of the study is to assess the effect and safety of administering these cells directly into the arteries of the upper arm in patients with the G mutation. The study will involve three administrations of the treatment to the left arm. Researchers will evaluate the strength and fatigue of the muscles in both arms before and after the treatment. They will also monitor for any serious side effects, blockages in blood vessels, and changes in neurological signs, which are indicators of the nervous system’s health.

Throughout the study, participants will have their muscle strength and fatigue measured using a special device. Additionally, muscle samples will be taken to examine muscle mass, structure, the load of the G mutation, and the ability of the muscles to use oxygen. The study is expected to continue until June 2026, with recruitment starting in November 2023.

]]> Study of doxecitine and doxribtimine oral solution for adult patients with Thymidine Kinase 2 (TK2) Deficiency https://clinicaltrials.eu/trial/study-on-the-effects-of-doxecitine-and-doxribtimine-in-adults-with-thymidine-kinase-2-deficiency/ Wed, 29 Apr 2026 14:27:32 +0000 https://clinicaltrials.eu/trial/study-on-the-effects-of-doxecitine-and-doxribtimine-in-adults-with-thymidine-kinase-2-deficiency/ The study focuses on a rare genetic condition called Thymidine Kinase 2 (TK2) Deficiency, which affects muscle function and breathing. This disorder is caused by genetic mutations that impact how cells produce energy, leading to muscle weakness and respiratory problems. The study will test a combination of two medications: doxecitine and doxribtimine (also known as MT1621), which are given as an oral solution that patients drink.

The purpose of this research is to determine how well this combination treatment works and how safe it is for adults with TK2 Deficiency. The study will follow participants for 24 months while they receive the medication. During this time, the maximum daily dose will be 800 milligrams per kilogram of body weight.

This is a single-arm study, which means all participants will receive the same treatment combination. The medications will be taken by mouth according to a specific schedule. Participants will need to visit the study center regularly for check-ups to monitor their muscle strength, breathing function, and overall health while taking the medication.

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