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 enrollmentApril 28, 2015

DrugsMIglustat

Overview

Phase: Phase 1
Intervention: Not specified
Conditions: Not specified
Sponsor: Orphazyme ApS
Enrollment: 40
Status: Active, not recruiting
Last Updated: 7 years ago

Overview Investigators Eligibility Criteria Outcomes Similar Trials

Overview

Brief Summary

No summary available.

Registry

who.int

Start Date

April 28, 2015

End Date

TBD

Last Updated

7 years ago

Study Type

Interventional clinical trial of medicinal product

Sex

All

Investigators

Sponsor

Orphazyme ApS

Eligibility Criteria

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.

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)