An Open Label, Exploratory Study to Investigate the Treatment Effect og Glatiramer Acetate (Copaxone ®) on Girls Woth Rett Syndrome
试验速览
- 阶段
- 1 期
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Improvement of epileptiform activity as recorded in a 24-hours EEG.
研究概览
简要总结
Primary Objective: To test the hypothesis that 6 months treatment with glatiramer acetate (GA) decreases epileptiform activity in young girls with Rett syndrome.
Primary Safety Objective:To evaluate the safety and tolerability of 6 months treatment with GA in these patients.
Secondary Objectives:
- To test the hypothesis that 6 months treatment with glatiramer acetate (GA) improves respiratory dysfunction.
- To evaluate the effect of GA treatment on general behaviour communication, hand stereotyping, feeding, sleep and other autonomic symptoms: gastrointestinal and cardiac.
- To assess the effect of GA treatment on bodily development.
Primary Endpoint:Improvement of epileptiform activity as recorded in a 24-hours EEG.
Primary Safety Endpoint:Frequency and severity of treatment-related AEs (including safety lab parameters).
Secondary Endpoints:
- Improvement in the scoring of breath holds and hyperventilation, as measured with non-invasive respiratory inductance plethysmography (NoxT3 device) and parents' diaries.
- Changes in general behaviour, communication, feeding and motor skills as assessed by the investigator (based on Kerr and Naidu validated severity scores) and recorded in parents' diary.
- Decrease in seizure frequency as reported in parents' diary.
- Improvement in sleep schedule as recorded in a sleep diary.
- Change in height and weight. Population:Ten girls, 6 to 15 years old, diagnosed with Rett syndrome (RTT) Study Design:This is a single - center, exploratory, open-label, study in 10 girls diagnosed with RTT. The study will consist of four parts: Screening and baseline assessments, initial and final dose-setting period, treatment period and end-of study follow-up.
Investigational Product:Glatiramer Acetate (Copaxone® , Teva Pharmaceutical Industries Ltd.) Sample Size Consideration: The planned sample size of 10 patients was considered adequate by the investigator for this phase I exploratory proof-of-concept study. The study is not expected to show statistical significance or statistical power, only a trend for the study endpoints. Each patient will serve as her own control.
Duration of Study: Approximately 8 months per patient (including up to 2 weeks pre-treatment assessment, 6 months initial dose and treatment periods and end-of study visit).
Overall study duration: the study is expected to be completed within 12 months (dependent on rate of recruitment).
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 6 Years 至 15 Years（Child）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Females, age 6-15 years (inclusive).
- •Patients whose parents or legal custodians have provided written informed consent to participate in the study.
- •A diagnosis of RTT (classical or variant), defined according to the internationally agreed 2010 RetSearch criteria [4].
- •Evidence of a genetically defined pathological change in the MECP2 gene (point mutation or deletion)
- •Patients with known epileptiform activity as recorded on EEG.
- •Blood pressure and heart rate within normal limits (blood pressure: systolic 90-140 mmHg; diastolic 50-90 mmHg, heart rate 40-120 beats per minute
- •An electrocardiogram (ECG) which, according to the Investigator's judgment does not contraindicate participation in the study.
- •No clinically significant abnormalities in haematology, blood chemistry lab tests at screening.
- •Parents must be able to understand the requirements of the study and must be willing to comply with the requirements of the study
排除标准
- •Any medical problem or chronic illness beyond those known to be associated with Rett Syndrome which, in the investigator's judgment, contraindicates administration of the study medication.
- •Severe respiratory dysfunction (defined as tracheostomy and/or chronic oxygen therapy at least 4 hours a day and/or repeated aspiration pneumonia - at least 4 in the last year).
- •Intractable seizures that started during the last 6 months prior to beginning of the study.
- •Known hypersensitivity to glatiramer or mannitol.
- •Participation in another clinical study.
- •Parents of a patient who are unable to communicate well with the investigator and staff and comply with study procedures and follow-up
- •Parents of a patient who are unwilling to sign consent form.
研究组 & 干预措施
Copaxone
Glatiramer Acetate (Copaxone® , Teva Pharmaceutical Industries Ltd.) 20 mg daily or in an interval determined in the Dose Setting period. Administration will be subcutaneous to various areas on the body: back of the upper arms (2 areas), front and outside of thighs (2 areas), upper buttocks/rear hips (2 areas), and stomach (the abdomen).
干预措施: Glatiramer Acetate (Copaxone®) (Drug)
结局指标
主要结局
Improvement of epileptiform activity as recorded in a 24-hours EEG.
时间窗: 6 months
次要结局
- 1.Improvement in the scoring of breath holds and hyperventilation, as measured with non-invasive respiratory inductance plethysmography (NoxT3 device) and parents' diaries.(8 months)
- 2. Changes in general behaviour, communication, feeding and motor skills as assessed by the investigator (based on Kerr and Naidu validated severity scores) and recorded in parents' diary.(8 months)
- Decrease in seizure frequency as reported in parents' diary.(8 months)
- Improvement in sleep schedule as recorded in a sleep diary.(8 months)
- Change in height and weight(8 months)
研究者
Prof. Bruria Ben-Zeev MD
Head of pediatric neurology unit and Israeli Rett Cener
Sheba Medical Center