EUCTR2014-005194-37-ES进行中（未招募）1 期
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 - Characterisation of Niemann-Pick disease type C
Orphazyme ApS0 个研究点目标入组 40 人开始时间: 2015年5月8日最近更新:
适应症
相关药物
试验速览
- 阶段
- 1 期
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 40
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Interventional clinical trial of medicinal product
入排标准
- 性别
- All
入选标准
- •? Written informed consent (and assent if appropriate to local laws and
- •regulations) prior to any study-related procedures
- •? Willing to participate in all aspects of trial design including serial blood
- •sampling, skin biopsies and imaging (ultrasonography and magnetic
- •resonance imaging/magnetic resonance spectroscopy (MRI/MRS)
- •collections
- •? Males and females aged from 2 years to 18 years and 11 months
- •? Patients of any ethnic background will be eligible for this study
- •? Diagnosis of Niemann-Pick disease type C (NP-C), NPC1/NPC2
- •? NP-C diagnosis genetically confirmed (deoxyribonucleic acid [DNA]
- •sequence analysis);
- •? 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)
- •? Treated or non-treated with miglustat; if the 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 this study
- •? Patient weight ? 15th percentile of body mass index (BMI) for age
- •according to the World Health Organisation (WHO) standards
- •? Ability to walk either independently or with assistance.
- •Are the trial subjects under 18? yes
- •Number of subjects for this age range: 35
- •F.1.2 Adults (18-64 years) yes
- •F.1.2.1 Number of subjects for this age range 5
- •F.1.3 Elderly (>=65 years) no
- •F.1.3.1 Number of subjects for this age range
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 enrolment,
- •or during the study
- •? Current participation in another trial is not permitted unless it is a noninterventional
- •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 [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.
研究者
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