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Biomarker for Niemann Pick Type C Disease (BioNPC)

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2015 by University of Rostock
Centogene AG Rostock
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock Identifier:
First received: March 1, 2011
Last updated: May 7, 2015
Last verified: May 2015

Niemann Pick Syndrome Type C is a lysosomal storage disorder, caused by a pathological overload of cells with unesterified cholesterol as a result of impaired lipid transport into the cell, has still the problem of the difficulties of a simple and reliable analysis for the primary diagnosis but also for the follow-up of the disease. Therefore the primary aim of our project called "BioNPC" is the development of a new plasma biomarker for the early and sensitive diagnosis of the disease. The secondary aim is the testing for clinical robustness, specificity and long-term stability of the biomarker.

Within the scope of the study the investigators would like to collect in the next 12 months from about 80 patient's plasma and parallel a simple documentation of the clinical data.

Niemann-Pick Disease
Niemann-Pick Disease, Type C

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Niemann Pick Type C Disease an International, Multicenter, Epidemiological Study

Resource links provided by NLM:

Further study details as provided by University of Rostock:

Primary Outcome Measures:
  • Development of a new MS-based biomarker for the early and sensitive diagnosis of Niemann Pick Type C disease from plasma and saliva [ Time Frame: 24 month ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 24 month ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

For the development of the new biomarkers using the technique of Mass-spectometry 20ml EDTA and a dry blood spot filter card. To proof the correct NPC nosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of NPC1 and/or NPC2 will be done. The analyses are done in the Albrecht-Kossel-Institute for Neuroregeneration (AKos) Gehlsheimerstr.20, 18055 Rostock (Germany)

Estimated Enrollment: 80
Study Start Date: March 2011
Estimated Study Completion Date: October 2016
Estimated Primary Completion Date: September 2016 (Final data collection date for primary outcome measure)
Patients from the first day of life with Niemann Pick Type C syndrome NPC1/NPC2 or profound suspicion for Niemann Pick Type C syndrome NPC1/NPC2 disease

Detailed Description:

Niemann-Pick disease type C (NPC) is a lipid storage disease that can present in infants, children, or adults. Neonates can present with ascites and severe liver disease from infiltration of the liver and/or respiratory failure from infiltration of the lungs. Other infants, without liver or pulmonary disease, have hypotonia and developmental delay. The classic presentation occurs in mid-to-late childhood with the insidious onset of ataxia, vertical supranuclear gaze palsy (VSGP), and dementia. Dystonia and seizures are common. Dysarthria and dysphagia eventually become disabling, making oral feeding impossible; death usually occurs in the late second or third decade from aspiration pneumonia. Adults are more likely to present with dementia or psychiatric symptoms. The diagnosis of NPC is confirmed by biochemical testing that demonstrates impaired cholesterol esterification and positive fillipin staining in cultured fibroblasts. Biochemical testing for carrier status is unreliable. Most individuals with NPC have NPC1, caused by mutations in the NPC1 gene; fewer than 20 individuals have been diagnosed with NPC2, caused by mutations in the NPC2 gene. Molecular genetic testing of the NPC1 genes detects disease-causing mutations in approximately 94% of individuals with NPC. Such testing is available clinically.

NPC is inherited in an autosomal recessive manner. Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. The phenotype (i.e., age of onset and severity of symptoms) usually runs true in families. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible when the two disease-causing mutations have been identified in the family. Since the only accepted and easily accessible lab test, Fillipin staining of skin fibroblasts, is invasive and has a rather low sensitivity and specificity and genetic sequencing is tome-consuming and expensive there is an urgent need for the improvement of diagnostic biomarkers. New methods, like mass-spectometry give a good chance to characterize in the blood (plasma) of affected patents specific metabolic alterations that allow to diagnose in the future the disease earlier, with a higher sensitivity and specificity. The development of new biochemical markers from the plasma of the affected patients is the goal of the study.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

Patients with a diagnosis of Niemann Pick Type C syndrome NPC1/NPC2 or profound suspicion for Niemann Pick Type C syndrome NPC1/NPC2 disease


Inclusion Criteria:

  • Written informed consent will be obtained from the patient or their parents before any study related procedures
  • Patients from the first day of life
  • The patient has a diagnosis of Niemann Pick Type C syndrome NPC1/NPC2 or profound suspicion for Niemann Pick Type C syndrome NPC1/NPC2 disease

High-grade suspicion present, if one or more criteria are valid:

  • Positive family anamnesis for NPC1/NPC2
  • Splenomegaly without identifiable cause
  • Hepatomegaly without identifiable cause
  • Neurological symptoms without identifiable cause
  • Psychiatric symptoms without identifiable cause

Exclusion Criteria:

  • No written informed consent will be obtained from the patient or their parents before any study related procedures
  • No diagnosis of NPC1/NPC2 or no valid criteria for high-grade suspicion of NPC1/ NPC2
  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: NCT01306604

Contact: Arndt Rolfs, MD +49 381 494 ext 9540
Contact: Susanne Zielke +49 381 494 ext 4739

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Sponsors and Collaborators
University of Rostock
Centogene AG Rostock
Principal Investigator: Arndt Rolfs, MD University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration
  More Information

Additional Information:
No publications provided

Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock Identifier: NCT01306604     History of Changes
Other Study ID Numbers: BN04/2011
Study First Received: March 1, 2011
Last Updated: May 7, 2015
Health Authority: Germany: Ethics Commission

Keywords provided by University of Rostock:
Lysosomal Storage Diseases
Genetic Diseases
Lipid Metabolism
Metabolic Diseases
Lipid Metabolism Disorders

Additional relevant MeSH terms:
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Niemann-Pick Diseases
Aphasia, Primary Progressive
Frontotemporal Dementia
Pick Disease of the Brain
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Communication Disorders
Delirium, Dementia, Amnestic, Cognitive 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 processed this record on October 02, 2015