EUCTR2014-005194-37-ES
Active, not recruiting
Phase 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 enrollmentMay 8, 2015
Conditionsiemann-Pick disease - type CMedDRA version: 18.0Level: PTClassification code 10029403Term: Niemann-Pick diseaseSystem Organ Class: 10010331 - Congenital, familial and genetic disordersTherapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
DrugsMIglustat
Overview
- Phase
- Phase 1
- Intervention
- Not specified
- Conditions
- iemann-Pick disease - type C
- Sponsor
- Orphazyme ApS
- Enrollment
- 40
- Status
- Active, not recruiting
- Last Updated
- 8 years ago
Overview
Brief Summary
No summary available.
Investigators
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]
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
Outcomes
Primary Outcomes
Not specified
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