Trials Sponsors Conditions Drugs Pricing

Conditions

Niemann-Pick Disease Niemann-Pick Disease, Type C

Keywords

Genetic DiseasesLipidosesLipid MetabolismLysosomal Storage DiseasesMetabolic DiseasesLipid Metabolism Disorders

Outcome Measures

Primary Outcomes (1)

Development of a new MS-based biomarker for the early and sensitive diagnosis of Niemann Pick Type C disease from blood (Plasma)
New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity
24 month

Secondary Outcomes (1)

Testing for clinical robustness, specificity and long-term stability of the biomarker
36 months

Study Arms (1)

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

Eligibility Criteria

Age1 Day+

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodProbability Sample

Study Population

Patients with Niemann Pick Disease Type C (NPC1/NPC2) or profound suspicion for Niemann Pick Disease Type C disease (NPC1/NPC2)

You may qualify if:

Informed consent will be obtained from the patient or the parents before any study related procedures.

Sponsors & Collaborators

CENTOGENE GmbH Rostock
Industrylead

Study Sites (4)

Centogene AG

Rostock, 18055, Germany

Amrita Institute of Medical Sciences & Research Centre

Kochi, Kerala, 682041, India

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Mumbai, 400705, India

Lady Ridgeway Hospital for Children

Colombo, 00800c, Sri Lanka

Biospecimen

Retention: SAMPLES WITH DNA

For the development of the new biomarkers using the technique of Mass-spectometry, a blood sample of maximal 10ml blood will be taken from the patient via using a dried blood spot filter card. To proof the correct NPC diagnosis 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 will be done at the: Centogene AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

Niemann-Pick DiseasesNiemann-Pick Disease, Type CGenetic Diseases, InbornLipidosesLysosomal Storage DiseasesMetabolic DiseasesLipid Metabolism Disorders

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesHistiocytosis, Non-Langerhans-Cell

Study Officials

Peter Bauer, Prof.
Centogene GmbH
STUDY CHAIR

Enrollment

0 participants (actual enrollment reported by the registry).

Study Design

Study Type: observational
Observational Model: COHORT
Time Perspective: PROSPECTIVE
Sponsor Type: INDUSTRY
Responsible Party: SPONSOR

Study Record Dates

First Submitted

March 1, 2011

First Posted

March 2, 2011

Study Start

August 20, 2018

Actual (reported)

Study Stopped

Biomarker for Niemann Pick Type C Disease (BioNPC)

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (1)

Study Arms (1)

Observation

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (4)

Related Links

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (1)

Study Arms (1)

Observation

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (4)

Related Links

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations