Trial record 9 of 35 for:    Niemann Pick C

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

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2016 by Orphazyme
Information provided by (Responsible Party):
Orphazyme Identifier:
First received: April 22, 2015
Last updated: February 15, 2016
Last verified: February 2016

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.

Niemann-Pick Disease, Type C

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
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

Resource links provided by NLM:

Further study details as provided by Orphazyme:

Primary Outcome Measures:
  • NP-C clinical disease severity [ Time Frame: at week 0 and week 24-28 ] [ Designated as safety issue: No ]
    Change in NP-C Clinical Severity scale

  • Quality of life questionnaire (EQ-5D-Y) [ Time Frame: at week 0 and week 24-28 ] [ Designated as safety issue: No ]
    Change in the Quality of life

  • Ultrasonographic evaluation of liver and spleen [ Time Frame: at week 0 and week 24-28 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    Change in Oxysterol concentrations

  • NPC clinical symptoms [ Time Frame: at week 0 and week 24-28 ] [ Designated as safety issue: No ]
    Change in NPC clinical symptoms

  • NPC protein [ Time Frame: at week 0 and week 24-28 ] [ Designated as safety issue: No ]
    Change in NPC protein concentrations

Secondary Outcome Measures:
  • Safety Parameters [ Time Frame: at week 0 and week 24-28 ] [ Designated as safety issue: Yes ]
    Adverse events (AEs) (disease related and treatment related), haematology, clinical chemistry, physical examination, vital signs and electrocardiogram (ECG).

Biospecimen Retention:   Samples Without DNA

Estimated Enrollment: 46
Study Start Date: September 2015
Estimated Primary Completion Date: March 2016 (Final data collection date for primary outcome measure)
NP-C Patients
NPC type 1 or 2 patients aged 2-18 years


Ages Eligible for Study:   2 Years to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
NPC1 and NPC2 patients aged 2-18 years

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02435030

Contact: Orphazyme NPC Clinical Trial Information Centre

University Hospital Copenhagen (Rigshospitalet) Recruiting
Copenhagen, Denmark, 2100
Contact: Christine Dali    +45 25 22 91 55 / +45 35 45 40   
Contact: Pernille Stroem   
Principal Investigator: Christine Dali         
CHU de Montpellier Not yet recruiting
Montpellier, France
Contact: Agathe Roubertie, Dr    33 4 67 33 01 82   
Principal Investigator: Agathe Roubertie, Dr         
Hôpital Trousseau Not yet recruiting
Paris, France
Contact: Bénédicte Héron    01 44 73 66 93/ 74 30   
Principal Investigator: Bénédicte Héron         
Villa Metabolica Mainz Recruiting
Mainz, Germany, 55131
Contact: Sibel Koctuerk   
Contact: Eugen Mengel    +49 6131 17 27 81   
Principal Investigator: Eugen Mengel         
Klinikum der Universistat, Munchen Not yet recruiting
Munich, Germany
Contact: Esther Maier    9-4400-55110   
Istituto Carlo Besta (Milano) Recruiting
Milan, Italy, 20133
Contact: Anna Ardissone    +39 0223943043   
Principal Investigator: Anna Ardissone         
Azienda Ospedaliera San Gerardo Recruiting
Monza, Italy, 20900
Contact: Rossella Parini    '+39 0392333286   
Principal Investigator: Rossella Parini         
Università Federico II Not yet recruiting
Napoli, Italy, 80138
Contact: Giancarlo Parenti    +39 081 7461111   
Principal Investigator: Giancarlo Parenti         
Ospedale Pediatrico Bambino Gesù Recruiting
Rome, Italy, 00146
Contact: Federica Deodato    +39 0668592225   
Principal Investigator: Federica Deodato         
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" Recruiting
Udine, Italy
Contact: Bruno Bembi    +39 0432 559914   
Principal Investigator: Bruno Bembi         
The Children´s Memorial Istitute Warsaw Recruiting
Warsaw, Poland, 04-730
Contact: Anna Tylki-Szymanska    48 22 815 74 90   
Contact: Barbara Perkowska-Sumiła    +48 60 543 05 32   
Principal Investigator: Anna Tylki-Szymanska         
Sub-Investigator: Barbara Perkowska-Sumiła         
Sub-Investigator: Paulina Pokora         
Sub-Investigator: Dariusz Rokicki         
Hospital Vall D'Hebron Recruiting
Barcelona, Spain, 08035
Contact: Mireia del Toro    +34 93 489 31 56 / +34 93 489   
Principal Investigator: Mireia del Toro         
Hospital Quirón Not yet recruiting
Zaragoza, Spain, 50006
Contact: Pilar Giraldo    +34 976 76 55 46   
Principal Investigator: Pilar Giraldo         
Inselspital, University Hospital Bern Recruiting
Bern, Switzerland, 3010
Contact: Matthias Gautschi    +41 (0) 31 632 01 47   
Principal Investigator: Matthias Gautschi         
United Kingdom
Birmingham Children's Hospital Recruiting
Birmingham, United Kingdom, B4 6NH
Contact: Saikat Santra    '+44 (0) 121 333 9999 ext 9907   
Principal Investigator: Saikat Santra         
Great Ormond Street Hospital Recruiting
London, United Kingdom, WC1N 3JH
Contact: Stephanie Grünewald    +44 (0) 207 405 9200 ext 5193   
Principal Investigator: Stephanie Grunewald         
Sponsors and Collaborators
Principal Investigator: Karl-Eugen Mengel Villa Metabolica, Mainz, Germany
  More Information

Responsible Party: Orphazyme Identifier: NCT02435030     History of Changes
Other Study ID Numbers: CT-ORZY-NPC-001  2014-005194-37 
Study First Received: April 22, 2015
Last Updated: February 15, 2016
Health Authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé
Germany: Federal Institute for Drugs and Medical Devices
Spain: Agencia Española de Medicamentos y Productos Sanitarios

Keywords provided by Orphazyme:
lysosomal storage disorder
lysosomal storage disease
Niemann-Pick Type C

Additional relevant MeSH terms:
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Niemann-Pick Diseases
Pick Disease of the Brain
Aphasia, Primary Progressive
Frontotemporal Dementia
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Communication Disorders
Frontotemporal Lobar Degeneration
Genetic Diseases, Inborn
Histiocytosis, Non-Langerhans-Cell
Language Disorders
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lymphatic Diseases
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Mental Disorders
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Neurobehavioral Manifestations
Neurocognitive Disorders processed this record on May 24, 2016