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A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02435030
Recruitment Status : Completed
First Posted : May 6, 2015
Last Update Posted : May 18, 2017
Sponsor:
Information provided by (Responsible Party):
Orphazyme

Tracking Information
First Submitted Date April 22, 2015
First Posted Date May 6, 2015
Last Update Posted Date May 18, 2017
Study Start Date September 2015
Actual Primary Completion Date May 2017   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: September 3, 2015)
  • NP-C clinical disease severity [ Time Frame: at week 0 and week 24-28 ]
    Change in NP-C Clinical Severity scale
  • Quality of life questionnaire (EQ-5D-Y) [ Time Frame: at week 0 and week 24-28 ]
    Change in the Quality of life
  • Ultrasonographic evaluation of liver and spleen [ Time Frame: at week 0 and week 24-28 ]
    Changes in the size and/or characteristics of the liver and spleen (assessed by ultrasound).
  • Oxysterol [ Time Frame: at week 0 and week 24-28 ]
    Change in Oxysterol concentrations
  • NPC clinical symptoms [ Time Frame: at week 0 and week 24-28 ]
    Change in NPC clinical symptoms
  • NPC protein [ Time Frame: at week 0 and week 24-28 ]
    Change in NPC protein concentrations
Original Primary Outcome Measures
 (submitted: April 30, 2015)
  • NP-C clinical disease severity [ Time Frame: at week 0 and week 24-28 ]
    Change in NP-C Clinical Severity scale
  • Quality of life questionnaire (EQ-5D-Y) [ Time Frame: at week 0 and week 24-28 ]
    Change in the Quality of life
  • CNS changes (MRI and MRS) [ Time Frame: at week 0 and week 24-28 ]
    Changes in the central nervous system (CNS) structure and function (assessed by magnetic resonance imaging [MRI] and magnetic resonance spectroscopy [MRS]);
  • Ultrasonographic evaluation of liver and spleen [ Time Frame: at week 0 and week 24-28 ]
    Changes in the size and/or characteristics of the liver and spleen (assessed by ultrasound).
  • Oxysterol [ Time Frame: at week 0 and week 24-28 ]
    Change in Oxysterol concentrations
  • NPC clinical symptoms [ Time Frame: at week 0 and week 24-28 ]
    Change in NPC clinical symptoms
  • NPC protein [ Time Frame: at week 0 and week 24-28 ]
    Change in NPC protein concentrations
Change History Complete list of historical versions of study NCT02435030 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: April 30, 2015)
Safety Parameters [ Time Frame: at week 0 and week 24-28 ]
Adverse events (AEs) (disease related and treatment related), haematology, clinical chemistry, physical examination, vital signs and electrocardiogram (ECG).
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
Official Title 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
Brief Summary

This is a prospective non-therapeutic observational study in NP-C patients. The aim is to characterize the individual patient disease progression profile through the historical and 6 months prospective evaluation of clinical, imaging, biological(biomarkers) and quality of life data.

Patients will be offered enrollment into a Phase II/III study on arimoclomol at the end of the study.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples Without DNA
Description:
Plasma
Sampling Method Probability Sample
Study Population NPC1 and NPC2 patients aged 2-18 years
Condition Niemann-Pick Disease, Type C
Intervention Not Provided
Study Groups/Cohorts NP-C Patients
NPC type 1 or 2 patients aged 2-18 years
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: April 3, 2017)
35
Original Estimated Enrollment
 (submitted: April 30, 2015)
46
Actual Study Completion Date May 2017
Actual Primary Completion Date May 2017   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Written informed consent (and assent if appropriate to local laws and regulations) prior to any study-related procedures;
  • Males and females aged from 2 years to 18 years and 11 months;
  • Patients of any ethnic background will be eligible for this study;
  • Patient weight ≥15th percentile of body mass index (BMI) for age according to the World Health Organisation (WHO) standards;
  • Diagnosis of Niemann Pick disease Type C (NP-C), either NPC1 or NPC2;
  • NP-C diagnosis genetically confirmed (deoxyribonucleic acid [DNA] sequence analysis);
  • Both NPC1 and NPC2 patients are eligible;
  • 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);
  • Ability to walk either independently or with assistance;
  • Ability to travel to the corresponding clinical trial site repeatedly (every 6 months) for evaluation and follow-up;
  • Treated or non-treated with miglustat;
  • If a 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 the study;
  • Sexually active patients must be willing and able to use an adequate method of contraception throughout the study, for example: diaphragm + spermicide; intrauterine contraceptive device; oral contraceptives; implant; injection of a progestogen medication;
  • Ability to comply with the protocol-specified procedures/evaluations and scheduled visits;
  • Willing to participate in all aspects of trial design including serial blood sampling, skin biopsies and imaging (ultrasonography) collections.

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 enrollment;
  • Treatment with any IMP during the study in an attempt to treat NP-C;
  • 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 to be performed in the subsequent therapeutic interventional study [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.
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Years to 18 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Denmark,   France,   Germany,   Italy,   Poland,   Spain,   Switzerland,   United Kingdom
Removed Location Countries  
 
Administrative Information
NCT Number NCT02435030
Other Study ID Numbers CT-ORZY-NPC-001
2014-005194-37 ( EudraCT Number )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Orphazyme
Study Sponsor Orphazyme
Collaborators Not Provided
Investigators
Principal Investigator: Karl-Eugen Mengel Villa Metabolica, Mainz, Germany
PRS Account Orphazyme
Verification Date May 2017