A non-therapeutic study in patients with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression patter

Phase 1

• Conditions: iemann-Pick disease - type C; MedDRA version: 18.0Level: PTClassification code 10029403Term: Niemann-Pick diseaseSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

• Registration Number: EUCTR2014-005194-37-ES
• Lead Sponsor: Orphazyme ApS

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2015-05-08
• Last Update Posted: 21 August 2017

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 40

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 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.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified