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Folinic acid therapy in patients with Kearns-Sayre syndrome (KSS) and cerebral folate deficiency - mitoFolat
EU CTIS ID: 2023-503730-45-00
What this study is testing
To assess the efficacy of folinic acid administration in comparison to no treatment to the clinical outcome with regard to KSS
- Therapeutic exploratory (Phase II)
A plain-language read of the study's public EU CTIS listing. The study team confirms the details.
Who can take part
You may be able to join if
- Children and adolescents with KSS 6 to17 years of age
- Disease onset at < 12 years of age
- 5MTHF concentration < 20 nmol/L in CSF at screening. Result not older than 6 months
- Diagnosed with a symptom complex consisting of progressive external ophthalmoplegia, ptosis, and pigmentary retinopathy, plus additionally one of: cardiac conduction defects, cerebellar syndrome or elevated CSF protein (>100mg/dl)
- Identification of a single large-scale mtDNA deletion and/or duplication or mtDNA m.3243A>G mutation (rs199474667) in at least 2 different cell types (blood cells, urine cells)
- Written informed consent of the legally designated representatives as of the minor who is capable to comprehend the nature, significance and implications of the clinical trial and to form a rational intention in the light of these facts
You likely can't join if
- Current and previous folic and folinic acid therapy (within the last 6 months before begin of the trial)
- Pregnancy and/or breastfeeding.
- Subjects dependent on sponsor, investigator or trial sites
- Persons deprived of liberty or placed in an institution by judicial or administrative order
- Consumption of synthetic folic or folinic acid (within the last 6 months before begin of the trial)
- Acute infections (e.g. pneumonia, sepsis)
See the full eligibility criteria
- Children and adolescents with KSS 6 to17 years of age
- Disease onset at < 12 years of age
- 5MTHF concentration < 20 nmol/L in CSF at screening. Result not older than 6 months
- Diagnosed with a symptom complex consisting of progressive external ophthalmoplegia, ptosis, and pigmentary retinopathy, plus additionally one of: cardiac conduction defects, cerebellar syndrome or elevated CSF protein (>100mg/dl)
- Identification of a single large-scale mtDNA deletion and/or duplication or mtDNA m.3243A>G mutation (rs199474667) in at least 2 different cell types (blood cells, urine cells)
- Written informed consent of the legally designated representatives as of the minor who is capable to comprehend the nature, significance and implications of the clinical trial and to form a rational intention in the light of these facts
- Willingness to use contraception to avoid pregnancy during trial
- Current and previous folic and folinic acid therapy (within the last 6 months before begin of the trial)
- Pregnancy and/or breastfeeding.
- Subjects dependent on sponsor, investigator or trial sites
- Persons deprived of liberty or placed in an institution by judicial or administrative order
- Consumption of synthetic folic or folinic acid (within the last 6 months before begin of the trial)
- Acute infections (e.g. pneumonia, sepsis)
- Contraindications for MRI/MRS (e.g. cochlear implant, pacemaker, etc.)
- Pernicious anemia
- Current medication with one or more of the following: phenobarbital, phenytoin, primidone, succinimides
- Simultaneous participation in other interventional trials which could interfere with this trial; simultaneous participation in registry and diagnostic trials is allowed
- Hypersensitivity to the active substance of the IMP or any other ingredient
- Participation in any other interventional clinical trial within the last 30 days or 5 half-lifes of the investigational product of the other clinical trial, whichever is loinger, before the start of this trial
The study team makes the final eligibility decision.
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 0-17 years. The study team makes the final eligibility decision.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from EU CTIS; the study team decides eligibility.