2023-503730-45-00招募中2 期
Folinic acid therapy in patients with Kearns-Sayre syndrome (KSS) and cerebral folate deficiency - mitoFolat
Universitaetsmedizin Goettingen, Universitaetsmedizin Goettingen6 个研究点 分布在 1 个国家目标入组 18 人开始时间: 2023年10月25日最近更新:
试验速览
- 阶段
- 2 期
- 状态
- 招募中
- 发起方
- 入组人数
- 18
- 试验地点
- 6
- 主要终点
- International Pediatric Mitochondrial Disease Scale (IPMDS) will be measured at 7 time points (baseline, months 3, 6, 9, 12, 15, and 18). Primary endpoint is the baseline adjusted mean difference between experimental treatment and no-treatment control group after 6 months. Changes between baseline value and the measurements after treatment start at month 6, 12, 18, respectively will also be analysed
研究概览
简要总结
To assess the efficacy of folinic acid administration in comparison to no treatment to the clinical outcome with regard to KSS
研究设计
- 分配方式
- Randomized
- 主要目的
- Group 1
- 盲法
- Single (Analyst)
入排标准
- 年龄范围
- 0 years 至 17 years（0-17 Years）
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •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
结局指标
主要结局
International Pediatric Mitochondrial Disease Scale (IPMDS) will be measured at 7 time points (baseline, months 3, 6, 9, 12, 15, and 18). Primary endpoint is the baseline adjusted mean difference between experimental treatment and no-treatment control group after 6 months. Changes between baseline value and the measurements after treatment start at month 6, 12, 18, respectively will also be analysed
International Pediatric Mitochondrial Disease Scale (IPMDS) will be measured at 7 time points (baseline, months 3, 6, 9, 12, 15, and 18). Primary endpoint is the baseline adjusted mean difference between experimental treatment and no-treatment control group after 6 months. Changes between baseline value and the measurements after treatment start at month 6, 12, 18, respectively will also be analysed
次要结局
- Biomarker (5-methyltetrahydrofolate, 5MTHF) concentration in CSF
- Regional brain volume, size and extension of white matter alterations and myelination assessed by magnetic resonance imaging (MRI)
- Concentrations of choline, myo-inositol assessed by 1H magnetic resonance spectroscopy (MRS)
- Baseline adjusted mean differences between Newcastle Paediatric Mitochondrial Disease Scale (NPMDS)
研究者
Clinical Trials Unit UMG
Scientific
Universitaetsmedizin Goettingen
研究点 (6)
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