Ongoing Clinical Trials for Mitochondrial Myopathy
Three clinical trials are currently investigating new treatments for mitochondrial myopathy, a rare genetic condition that causes muscle weakness and breathing problems. These studies are testing different approaches including oral medications, stem cell therapy, and antibody treatments to help improve muscle function and quality of life for patients. The trials are being conducted across several European countries including Spain, Netherlands, Germany, France, Italy, Hungary, Czechia, and Poland.
Clinical trial locations
- Czechia
- France
- Germany
- Hungary
- Italy
- Netherlands
- Poland
- Spain
Study of doxecitine and doxribtimine oral solution for adult patients with Thymidine Kinase 2 (TK2) Deficiency
This trial is investigating a combination treatment for adults with Thymidine Kinase 2 Deficiency, a rare genetic condition that affects muscle function and breathing. The study tests two medications, doxecitine and doxribtimine, given together as an oral solution that patients drink.
Who can participate: Adults over 18 years old with a confirmed genetic diagnosis of TK2 deficiency are eligible. Participants must show evidence of moderate to severe disease, which can be demonstrated through poor performance on movement tests, reduced walking distance, breathing problems, or worsening symptoms. Women who can become pregnant must use reliable birth control during the study and for 30 days after, and agree to pregnancy testing. Men with partners who can become pregnant must use effective birth control including condoms with spermicide during the study and for 90 days after the last dose. Participants must be willing to attend all study visits and follow all procedures.
Who cannot participate: People with a history of severe allergic reactions to the study medications, pregnant or breastfeeding women, and those who participated in another clinical trial within the past 30 days are excluded. The study also excludes people with severe liver or kidney problems, uncontrolled heart disease, active or untreated cancer, significant mental health conditions, or recent alcohol or drug abuse. Anyone unable to follow study procedures or attend scheduled visits cannot participate.
Study focus: The research aims to determine how well the combination treatment works and how safe it is for adults with TK2 Deficiency. Participants will receive the medication for 24 months, with a maximum daily dose of 800 milligrams per kilogram of body weight. During this time, researchers will regularly monitor muscle strength, breathing function, and overall health. This is a single-arm study, meaning all participants will receive the same treatment combination rather than comparing it to a placebo.
Investigational drugs: The study uses doxecitine and doxribtimine. These medications work by helping to restore normal function of an enzyme called thymidine kinase 2, which is essential for producing DNA building blocks in cells. Together, they aim to improve muscle function and overall quality of life by supporting cellular energy production and DNA synthesis in patients with this genetic condition.
Study on the Effect and Safety of Autologous Mesoangioblasts for Patients with Mitochondrial Myopathy Due to m.3243A>G Mutation
This clinical trial is testing a novel stem cell therapy for people with a specific type of mitochondrial myopathy caused by the m.3243A>G genetic mutation. The treatment uses special cells called mesoangioblasts that are derived from the patient’s own muscle tissue.
Who can participate: Adults between 18 and 64 years old can join this study. Both men and women are eligible. Participants must have the specific m.3243A>G genetic mutation that causes mitochondrial myopathy. Before joining, participants must provide written informed consent, meaning they agree to participate after being fully informed about the study.
Who cannot participate: People without the m.3243A>G mutation cannot participate. The study also excludes people who fall outside the specified age range and those considered part of vulnerable populations who might need special protection or care. Anyone with other medical conditions or factors that the study team believes would make participation unsafe or inappropriate is also excluded.
Study focus: The research evaluates whether injecting these specialized cells directly into the arteries of the upper left arm can improve muscle strength and reduce fatigue. Participants will receive three separate administrations of the cell therapy. Before and after treatment, researchers will measure muscle strength and fatigue in both arms using a device called a Biodex dynamometer. Muscle samples will be taken to examine muscle structure, the severity of the genetic mutation, and how well the muscles use oxygen. The study will also monitor for any serious side effects, blood vessel blockages, and changes in neurological health throughout the treatment period, which continues until June 2026.
Investigational treatment: The therapy involves autologous myogenic stem cells, which are stem cells taken from the patient’s own body. These cells are believed to help with muscle repair and regeneration. The treatment is classified as an advanced therapy medicinal product and is administered three times directly into the arteries of the upper left arm.
Study on Nipocalimab for Adults with Active Inflammatory Muscle Diseases
This trial focuses on Idiopathic Inflammatory Myopathies, a group of rare conditions that cause muscle inflammation and weakness. The study tests whether nipocalimab, a medication given through an intravenous infusion, can help manage these conditions.
Who can participate: Adults with active Idiopathic Inflammatory Myopathies who meet specific diagnostic criteria established in 2017 guidelines are eligible. The diagnosis must be confirmed at least 6 weeks before starting the study treatment. Participants must have specific antibodies related to muscle inflammation in their blood. If antibody tests are negative or show more than one type, they will be repeated, and if the same results occur, the person cannot join. Both men and women can participate, including people from vulnerable populations. If participants are using low-strength topical treatments for skin lesions, the dosage must remain stable for at least 4 weeks before starting the study and stay the same until Week 52.
Who cannot participate: The study excludes people with other serious health conditions that could interfere with the research, pregnant or breastfeeding women, and those with a history of severe allergic reactions to medications. People taking certain medications that might affect study results, those with recent infections requiring treatment, or those with a history of drug or alcohol abuse cannot participate. The study also excludes people who participated in another clinical trial recently, those with conditions affecting the immune system, people with a history of cancer (except some types of skin cancer), and those with blood disorders.
Study focus: The research aims to assess how effective and safe nipocalimab is compared to a placebo in treating Idiopathic Inflammatory Myopathies. Participants will receive either nipocalimab or a placebo and will be monitored for up to 52 weeks with regular check-ups. Researchers will look for improvements in muscle strength and overall health, with the primary goal of achieving at least minimal improvement by Week 52 along with a reduction in the use of oral prednisone or its equivalent. The study is expected to conclude by March 2027.
Investigational drug: Nipocalimab is a monoclonal antibody given directly into a vein. It works at the molecular level by targeting and blocking specific proteins involved in the immune response, helping to reduce inflammation. While being studied in clinical trials, it is not yet widely available in medical practice.
Summary
The three clinical trials for mitochondrial myopathy represent diverse therapeutic approaches targeting different aspects of this complex condition. Two trials focus on specific genetic forms of the disease: one investigating an oral medication combination for TK2 Deficiency in Spain, and another testing stem cell therapy for the m.3243A>G mutation in the Netherlands. The third trial, conducted across seven European countries (Hungary, Germany, Spain, France, Italy, Czechia, and Poland), examines an antibody treatment for inflammatory muscle diseases, demonstrating the broadest geographical reach.
Each study addresses different patient populations with varying severity levels and specific genetic profiles, reflecting the heterogeneous nature of mitochondrial myopathies. The trials employ different treatment modalities—oral medications, cellular therapy, and intravenous antibody infusion—indicating that researchers are exploring multiple pathways to address muscle weakness and breathing problems associated with these conditions. The longest trial extends to 24 months, while others run for approximately 12 to 24 months, allowing researchers adequate time to evaluate both effectiveness and safety of these experimental treatments.
