RecruitingRare disease

Study on the Effects of Calcium Folinate in Patients with Kearns-Sayre Syndrome and Cerebral Folate Deficiency

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying the effects of a treatment for two specific conditions: Kearns-Sayre syndrome and cerebral folate deficiency. The treatment being tested is called folinic acid, which is a form of vitamin B9. The purpose of the study is to evaluate how effective folinic acid is in improving the health outcomes of patients with these conditions compared to no treatment at all.

The study will involve participants taking folinic acid either by mouth or through an intravenous (IV) method. The trial will last for a period of up to 18 months, during which participants will have their health monitored at several points in time. This will help researchers understand any changes in the participants' condition and how folinic acid might be helping. The study will also look at various health markers, such as brain volume and certain chemicals in the brain, using techniques like magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS).

Participants in the study will be children and adolescents who have been diagnosed with Kearns-Sayre syndrome, a rare genetic disorder that affects the muscles and other parts of the body. The study aims to provide valuable insights into whether folinic acid can be a beneficial treatment option for these patients, potentially improving their quality of life and managing symptoms associated with their conditions.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Joining the study
Upon joining the study, the patient will be assessed to ensure they meet the inclusion criteria. This includes being between 6 to 17 years old, having Kearns-Sayre syndrome (KSS) with disease onset before 12 years of age, and a specific concentration of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid (CSF).
Step 2
Baseline assessment
The initial assessment involves measuring the International Pediatric Mitochondrial Disease Scale (IPMDS) and other health indicators. This serves as a reference point for future evaluations.
Step 3
Treatment phase
The patient will receive calcium folinate either orally or intravenously. The specific dosage and frequency will be determined by the study protocol. This phase aims to evaluate the effectiveness of folinic acid in improving the patient's condition.
Step 4
Follow-up assessments
The patient's progress will be monitored at 3, 6, 9, 12, 15, and 18 months. These assessments will include repeating the IPMDS and measuring 5MTHF concentration in the CSF, as well as brain imaging and spectroscopy to evaluate changes in brain structure and chemistry.
Step 5
Completion of the study
The study is expected to conclude by December 31, 2026. At the end of the study, the data collected will be analyzed to determine the efficacy of the treatment compared to no treatment.

Who can join the trial?

7 criteria

Children and adolescents aged 6 to 17 years with **Kearns-Sayre Syndrome (KSS)**.
The disease must have started before the age of 12.
A **5MTHF concentration** of less than 20 nM in the **cerebrospinal fluid (CSF)** during screening. The test result should not be older than 6 months. **5MTHF** is a form of folate, a type of vitamin B, and **CSF** is the fluid around the brain and spinal cord.
Diagnosed with a group of symptoms including **progressive external ophthalmoplegia** (difficulty moving the eyes), **ptosis** (drooping eyelids), and **pigmentary retinopathy** (changes in the retina of the eye), plus at least one of the following: heart rhythm problems, **cerebellar syndrome** (problems with balance and coordination), or high **CSF protein** levels (more than 100 mg/dl).
Identification of a single large-scale **mtDNA deletion** and/or duplication or **mtDNA m.3243A>G mutation** in at least two different cell types (such as blood cells or urine cells). **mtDNA** refers to mitochondrial DNA, which is genetic material found in mitochondria, the energy-producing parts of cells.
Written informed consent from the legally designated representatives of the minor, who must be able to understand the nature, importance, and implications of the clinical trial and make a rational decision based on this information.
Willingness to use contraception to prevent pregnancy during the trial.

Who cannot join the trial?

8 criteria

Patients who are not diagnosed with Kearns-Sayre Syndrome cannot participate. This is a specific condition that affects the body's energy production.
Individuals who are not within the specified age range for the study are excluded. The age range is not specified here, but it is important for eligibility.
Participants who are unable to provide informed consent, meaning they cannot understand the study and agree to participate, are not eligible.
People with other medical conditions that might interfere with the study or its results may be excluded. This ensures the study's accuracy and safety.
Pregnant or breastfeeding women are typically excluded from clinical trials to protect the health of the mother and child.
Individuals who are currently participating in another clinical trial may not be eligible, as this could affect the study's results.
Patients who have had a recent major surgery or are planning to have one during the study period might be excluded to avoid complications.
Those with a history of allergic reactions to the study medication or similar drugs are not eligible to ensure their safety.

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Verified sites

All sites with verified contact details – recruitment status may not be available; ask directly

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Medical Center - University Of Freiburg
Freiburg Im Breisgau, Germany
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Universitaetsklinikum Duesseldorf AöR
Duesseldorf, Germany
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Universitaetsklinikum Heidelberg AöR
Heidelberg, Germany

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Investigated drugs

Folinic Acid is being studied for its potential benefits in patients with Kearns-Sayre syndrome and cerebral folate deficiency. This therapy involves administering folinic acid to see if it can improve the clinical outcomes for individuals with these conditions.

ANHYDROUS CALCIUM FOLINATE

What is already known about the treatment

Folinic Acid – Folinic acid is administered orally or through injection, depending on the specific needs of the patient. It is currently being studied in clinical trials for its potential benefits in treating Kearns-Sayre syndrome, a rare mitochondrial disorder. The main therapeutic indication for folinic acid in this context is to address cerebral folate deficiency associated with the syndrome. At the molecular level, folinic acid works by providing a form of folate that can bypass certain metabolic blocks, supporting DNA synthesis and repair. It is classified pharmacologically as a folate analog and is often used to enhance the effects of certain chemotherapy drugs or to treat folate deficiency.

Investigated diseases

Kearns-Sayre Syndrome – Kearns-Sayre Syndrome is a rare genetic disorder that primarily affects the muscles and eyes. It typically begins before the age of 20 and is characterized by progressive external ophthalmoplegia, which is a weakness or paralysis of the eye muscles, leading to drooping eyelids and difficulty moving the eyes. Individuals with this syndrome may also experience heart conduction problems, muscle weakness, and ataxia, which is a lack of muscle coordination. The disease progresses slowly, and symptoms can vary widely among affected individuals. Other possible features include hearing loss, diabetes, and kidney problems. The condition is caused by defects in the mitochondrial DNA, which affect the energy production in cells.