Biomarker for Niemann Pick Type C Disease (BioNPC)
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ClinicalTrials.gov Identifier: NCT01306604 |
Recruitment Status
:
Recruiting
First Posted
: March 2, 2011
Last Update Posted
: May 4, 2017
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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.
Condition or disease |
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Niemann-Pick Disease Niemann-Pick Disease, Type C |
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.
Study Type : | Observational |
Estimated Enrollment : | 80 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Biomarker for Niemann Pick Type C Disease an International, Multicenter, Epidemiological Study |
Study Start Date : | March 2011 |
Estimated Primary Completion Date : | September 2018 |
Estimated Study Completion Date : | October 2018 |

Group/Cohort |
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Observation
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
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- 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 ]
- Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 24 month ]
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | Child, Adult, Senior |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01306604
Contact: Arndt Rolfs, MD | +49 381 494 ext 9540 | arndt.rolfs@med.uni-rostock.de | |
Contact: Susanne Zielke | +49 381 494 ext 4739 | susanne.zielke@med.uni-rostock.de |
Algeria | |
Pediatric practice | Recruiting |
Oran, Algeria, 31000 | |
Contact: Abdelmadjid Benmansour, MD benmansour_b@yahoo.com | |
Principal Investigator: Abdelmadjid Benmansour, MD | |
Argentina | |
Juan Fernandez Hospital, Department of Neurology | Recruiting |
Buenos Aires, Argentina, Cerviño 3356 | |
Contact: Juan Politei, MD +54 11 480 82600 jpolitei@hotmail.com | |
Sub-Investigator: Juan Politei, MD | |
Brazil | |
Health Technology Assessment in Clinical Genetics Research Group | Recruiting |
Porto Alegre -RS, Brazil, 90035-003 | |
Contact: Ida Vanessa Schwartz, Prof idadschwartz@gmail.com | |
Principal Investigator: Ida Vanessa Schwartz, Prof. | |
Hospital de Clinicas de Porto Alegre-Servico de Genetica Medica | Recruiting |
Porto Alegre, Brazil, 90035-903 | |
Contact: Roberto Giugliani, MD +55 51 3316 ext 8011 rgiugliani@hcpa.ufrgs.br | |
Principal Investigator: Roberto Giugliani, MD | |
Clinics Hospital of Ribeirao Preto- University of Sao Paulo | Recruiting |
Sao Paulo, Brazil, 14048-900 | |
Contact: Charles Marques Lourenco, MD charlesgenetica@gmail.com | |
Principal Investigator: Charles Marques Lourenco, MD | |
Bulgaria | |
University Pediatric Hospital of Sofia | Recruiting |
Sofia, Bulgaria, 1606 | |
Contact: Radka Tincheva, MD +359 889 811 ext 976 drrtincheva@hotmail.com | |
Principal Investigator: Radka Tincheva, MD | |
Denmark | |
National University Hosoital Rigshospitalet, Endokrinologisk ward | Recruiting |
Copenhagen, Denmark, 2100 | |
Contact: Ulla Feldt Rasmussen, Prof MD +45 35451023 ufeldt@rh.dk | |
Principal Investigator: Ulla Feldt Rasmussen, Prof. MD | |
Germany | |
Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock | Recruiting |
Rostock, Germany, 18147 | |
Contact: Arndt Rolfs, Prof. +49 381 494 ext 9540 arndt.rolfs@med.uni-rostock.de | |
Sub-Investigator: Anne Katrin Giese, MD | |
Greece | |
Aristotle University of Thessaloniki-Ippokration General Hospital | Recruiting |
Thessaloniki, Greece, 54642 | |
Contact: Dimitrios Zafeiriou, MD jeff@med.auth.gr | |
Principal Investigator: Dimitrios Zafeiriou, MD | |
India | |
NIRMAN, University of Mumbai | Recruiting |
Mumbai, India, 400705 | |
Contact: Anil Jalan, MD jalananil@yahoo.com | |
Principal Investigator: Anil Jalan, MD | |
Iran, Islamic Republic of | |
Research center University of Welfare Science, Medical Genetics Department Sarem Women Hospital | Recruiting |
Teheran, Iran, Islamic Republic of, 13969 | |
Contact: Yousef Shafeghati, MD +98(21) 44 633 ext 283 y_shafeghati@yahoo.com | |
Principal Investigator: Yousef Shafeghati, MD | |
Italy | |
Division of Child Neurology | Recruiting |
Rome, Italy, 00188 | |
Contact: Vincenzo Leuzzi, Prof. +39644712282 ext 272925 vincenzo.leuzzi@uniroma1.it | |
Sub-Investigator: Mario Mastrangelo, MD | |
Sub-Investigator: Letizia Nunziata, MD | |
Poland | |
The Children´s Memorial Istitute Poland - Department of Metabolic Disease | Recruiting |
Warsaw, Poland | |
Contact: Anna Tylki-Szymanska, Prof. +48 228 15 ext 74 90 atylki@czd.waw.pl | |
Principal Investigator: Anna Tylki-Szymanska, Prof. | |
Saudi Arabia | |
Dhahran Health Center - Saudi Aramco Medical Services Organization | Recruiting |
Dhahran, Saudi Arabia, 31311 | |
Contact: Nouriya Al-Sannaa, MD +9663 877 ext 8290 nouriya.sannaa@aramco.com | |
Principal Investigator: Nouriya Abbas Al-Sannaa, MD | |
Serbia | |
Mother and Child Health Institute of Serbia - Dr. Vukan Cupic | Recruiting |
Novi Beograd, Serbia, 11070 | |
Contact: Adrijan Sarajlija, MD adrijans2004@yahoo.com | |
Principal Investigator: Adrijan Sarajlijan, MD |
Principal Investigator: | Arndt Rolfs, MD | University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration |
Additional Information:
Responsible Party: | Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock |
ClinicalTrials.gov Identifier: | NCT01306604 History of Changes |
Other Study ID Numbers: |
BN04/2011 |
First Posted: | March 2, 2011 Key Record Dates |
Last Update Posted: | May 4, 2017 |
Last Verified: | May 2017 |
Keywords provided by Prof. Dr. Arndt Rolfs, University of Rostock:
Genetic Diseases Lipidoses Lipid Metabolism |
Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders |
Additional relevant MeSH terms:
Communication Disorders Pick Disease of the Brain Aphasia, Primary Progressive Frontotemporal Dementia Niemann-Pick Diseases Niemann-Pick Disease, Type A Niemann-Pick Disease, Type C Frontotemporal Lobar Degeneration Dementia Brain Diseases Central Nervous System Diseases Nervous System Diseases Neurocognitive Disorders Mental Disorders Aphasia |
Speech Disorders Language Disorders Neurobehavioral Manifestations Neurologic Manifestations Signs and Symptoms TDP-43 Proteinopathies Neurodegenerative Diseases Proteostasis Deficiencies Metabolic Diseases Sphingolipidoses Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Histiocytosis, Non-Langerhans-Cell Histiocytosis |