EUCTR2014-005194-37-DEActive, not recruitingPhase 1
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 sites40 target enrollmentStarted: April 28, 2015Last updated:
Drugs
Trial Snapshot
- Phase
- Phase 1
- Status
- Active, not recruiting
- Sponsor
- Enrollment
- 40
Study Overview
Brief Summary
No summary available.
Study Design
- Study Type
- Interventional clinical trial of medicinal product
Eligibility Criteria
- Sex
- All
Inclusion Criteria
- •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
Exclusion Criteria
- •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 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 [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.
Investigators
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