NCT02435030已完成不适用
A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Signo-symptomatology Progression Pattern
ZevraDenmark16 个研究点 分布在 8 个国家目标入组 35 人开始时间: 2015年9月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 35
- 试验地点
- 16
- 主要终点
- NPC protein
研究概览
简要总结
This is a prospective non-therapeutic observational study in NP-C patients. The aim is to characterize the individual patient disease progression profile through the historical and 6 months prospective evaluation of clinical, imaging, biological(biomarkers) and quality of life data.
Patients will be offered enrollment into a Phase II/III study on arimoclomol at the end of the study.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Written informed consent (and assent if appropriate to local laws and regulations) prior to any study-related procedures;
- •Males and females aged from 2 years to 18 years and 11 months;
- •Patients of any ethnic background will be eligible for this study;
- •Patient weight ≥15th percentile of body mass index (BMI) for age according to the World Health Organisation (WHO) standards;
- •Diagnosis of Niemann Pick disease Type C (NP-C), either NPC1 or NPC2;
- •NP-C diagnosis genetically confirmed (deoxyribonucleic acid [DNA] sequence analysis);
- •Both NPC1 and NPC2 patients are eligible;
- •Presenting at least one neurological symptom of the disease (for example, but not limited to, hearing loss, vertical supranuclear gaze palsy, ataxia, dementia, dystonia, seizures, dysarthria, or dysphagia);
- •Ability to walk either independently or with assistance;
- •Ability to travel to the corresponding clinical trial site repeatedly (every 6 months) for evaluation and follow-up;
- •Treated or non-treated with miglustat;
- •If a patient is under prescribed treatment with miglustat, it has to be under stable dose of the medication for ≥ 3 continuous months prior to inclusion in the study;
- •Sexually active patients must be willing and able to use an adequate method of contraception throughout the study, for example: diaphragm + spermicide; intrauterine contraceptive device; oral contraceptives; implant; injection of a progestogen medication;
- •Ability to comply with the protocol-specified procedures/evaluations and scheduled visits;
- •Willing to participate in all aspects of trial design including serial blood sampling, skin biopsies and imaging (ultrasonography) collections.
排除标准
- •No written informed consent obtained from the patient or their parent(s)/legal guardian(s) (and assent if appropriate to local laws and regulation) before any study related procedures;
- •Recipient of a liver transplant or planned liver transplantation;
- •Patients with uncontrolled severe epileptic seizures period (at least 3 consecutive severe epileptic seizures that required medication) within 2 months prior to the written consent. This includes patients with ongoing seizures that are not stable in frequency or type or duration over a 2 month period prior to enrollment, requiring change in dose of antiepileptic medication (other than adjustment for weight) over a 2 month period prior to enrollment, or requiring 3 or more antiepileptic medications to control seizures;
- •Neurologically asymptomatic patients;
- •Severe liver insufficiency (defined as hepatic laboratory parameters, aspartate transaminase [AST] and alanine transaminase [ALT] greater than three-times the upper limit of normal for age and gender;
- •Severe renal insufficiency, with serum creatinine level greater than 1.5 times the upper limit of normal ;
- •Severe manifestations of NP-C disease that would interfere with the patient's ability to comply with the requirements of this protocol;
- •In the opinion of the Investigator, the patient's clinical condition does not allow for the required blood collection and/or skin biopsies as per the protocol-specified procedures;
- •Treatment with any IMP within 4 weeks prior to the study enrollment;
- •Treatment with any IMP during the study in an attempt to treat NP-C;
- •Current participation in another trial is not permitted unless it is a non-interventional study and the sole purpose of the trial is for long-term follow up/survival data (registry);
- •Patients will be excluded if there is a confirmed risk linked to the MRI procedure to be performed in the subsequent therapeutic interventional study [i.e.: implanted cardiac pacemaker or implantable cardioverter defibrillator, implanted neural pacemakers, cochlear implants, implanted metallic foreign bodies in the eye or CNS (such as a CNS aneurysmal clip), any form of implanted wire or metal device that may concentrate radio frequency fields and/or confirmed history of unexpected serious adverse reaction to sedation or anesthesia (if sedation is necessary)];
- •Patients will be excluded if there is a confirmed risk linked to the skin punch biopsy procedure like severe thrombocytopaenia, at investigator's discretion.
结局指标
主要结局
NPC protein
时间窗: at week 0 and week 24-28
Change in NPC protein concentrations
NP-C clinical disease severity
时间窗: at week 0 and week 24-28
Change in NP-C Clinical Severity scale
Quality of life questionnaire (EQ-5D-Y)
时间窗: at week 0 and week 24-28
Change in the Quality of life
Ultrasonographic evaluation of liver and spleen
时间窗: at week 0 and week 24-28
Changes in the size and/or characteristics of the liver and spleen (assessed by ultrasound).
NPC clinical symptoms
时间窗: at week 0 and week 24-28
Change in NPC clinical symptoms
Oxysterol
时间窗: at week 0 and week 24-28
Change in Oxysterol concentrations
次要结局
- Safety Parameters(at week 0 and week 24-28)
研究者
研究点 (16)
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