In short
There are currently 2 clinical trials investigating treatments for Kearns-Sayre syndrome, a rare genetic disorder affecting muscles and eyes. These studies are taking place across several European countries and are exploring different therapeutic approaches to improve patient outcomes.
Clinical trial locations
- Czechia
- France
- Germany
- Hungary
- Italy
- Poland
- Spain
Study on the Effects of Calcium Folinate in Patients with Kearns-Sayre Syndrome and Cerebral Folate Deficiency
This study is evaluating folinic acid, a form of vitamin B9, in children and adolescents who have been diagnosed with both Kearns-Sayre syndrome and cerebral folate deficiency. The trial aims to determine whether folinic acid can improve health outcomes in patients with these conditions.
Who can participate: The study is looking for young patients aged 6 to 17 years who have Kearns-Sayre syndrome that started before age 12. Participants must have low levels of 5-methyltetrahydrofolate (a form of folate) in their cerebrospinal fluid, specifically below 20 nM. They must also show classic symptoms including difficulty moving the eyes, drooping eyelids, and changes in the retina, along with at least one additional feature such as heart rhythm problems, balance and coordination difficulties, or high protein levels in the cerebrospinal fluid. A genetic confirmation showing mitochondrial DNA deletion, duplication, or a specific mutation is required from at least two different cell types.
Who cannot participate: Patients without a confirmed diagnosis of Kearns-Sayre syndrome are not eligible. Pregnant or breastfeeding women cannot join the study. Those currently participating in another clinical trial, individuals who have had recent major surgery or are planning one during the study period, and people with a history of allergic reactions to the study medication or similar drugs are also excluded. Patients must be able to provide informed consent through their legal representatives and understand the nature and implications of the trial.
What the study involves: The trial runs for up to 18 months, during which participants receive calcium folinate either orally or intravenously. Researchers will monitor patients at regular intervals at 3, 6, 9, 12, 15, and 18 months. These assessments include measurements of disease severity using the International Pediatric Mitochondrial Disease Scale, analysis of folate levels in cerebrospinal fluid, and brain imaging using magnetic resonance imaging and spectroscopy to evaluate changes in brain structure and chemistry.
Investigational treatment: The study uses folinic acid (calcium folinate), which is a folate analog that can bypass certain metabolic blocks in the body. This medication supports DNA synthesis and repair, which may help address the cerebral folate deficiency seen in some patients with Kearns-Sayre syndrome.
Study on Nipocalimab for Adults with Active Inflammatory Muscle Diseases
This clinical trial is investigating nipocalimab as a potential treatment for adults with active idiopathic inflammatory myopathies, which are rare conditions causing muscle inflammation and weakness. The study will run for up to 52 weeks and is being conducted across multiple European countries.
Who can participate: Adults with active idiopathic inflammatory myopathies who meet specific diagnostic criteria established in 2017 guidelines are eligible. Participants must have been diagnosed at least 6 weeks before starting the study treatment. The study requires confirmation of specific antibodies related to muscle inflammation in the blood. If using low-strength topical treatments for skin lesions, such as topical glucocorticoids or tacrolimus, the dosage and frequency must remain stable for at least 4 weeks before starting the study and throughout the trial period.
Who cannot participate: The study excludes individuals with other serious health conditions that could interfere with results, pregnant or breastfeeding women, and those with a history of severe allergic reactions to medications. People using certain medications that might affect study outcomes, those with recent infections requiring treatment, or individuals with a history of drug or alcohol abuse cannot participate. Those who have recently joined another clinical trial, have immune system disorders, or have a history of cancer (except certain skin cancers) are also excluded, as are individuals with blood disorders.
What the study involves: Participants receive either nipocalimab or a placebo through intravenous infusion, meaning the medication is administered directly into the bloodstream through a vein. Regular monitoring occurs throughout the 52-week period to assess improvements in symptoms and any potential side effects. The primary goal is to achieve at least minimal improvement in the condition by Week 52, with a reduction in oral steroid use. Any current topical skin treatments must remain at stable doses until the completion of the study.
Investigational treatment: Nipocalimab is a monoclonal antibody that works by targeting and blocking specific proteins involved in the immune response. This action helps reduce inflammation in the muscles. While it is being studied for inflammatory myopathies, it is not yet widely available in standard medical practice.
Summary
The two ongoing clinical trials for Kearns-Sayre syndrome represent different research approaches. The first study specifically targets young patients with this rare genetic disorder and focuses on addressing cerebral folate deficiency using folinic acid. This trial is currently taking place only in Germany and represents a targeted approach to a specific complication of the syndrome.
The second trial takes a broader approach by investigating nipocalimab for inflammatory muscle diseases, which includes conditions that may overlap with or mimic certain aspects of Kearns-Sayre syndrome. This study has a much wider geographical reach, spanning seven European countries including Hungary, Germany, Spain, France, Italy, Czechia, and Poland. The multi-country design suggests a larger patient recruitment goal and may provide more diverse data on treatment effectiveness across different populations.
Both studies focus on improving muscle function and overall quality of life, but use entirely different therapeutic mechanisms. The folinic acid study addresses metabolic deficiencies, while the nipocalimab trial targets immune-mediated inflammation. These complementary approaches reflect the complexity of treating rare mitochondrial disorders and the ongoing search for effective therapeutic options.
