NCT01306604

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Niemann Pick Type C disease from Blood (plasma)

Trial Health

33
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Aug 2018

Typical duration for all trials

Geographic Reach
3 countries

4 active sites

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 1, 2011

Completed
1 day until next milestone

First Posted

Study publicly available on registry

March 2, 2011

Completed
7.5 years until next milestone

Study Start

First participant enrolled

August 20, 2018

Completed
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 28, 2021

Completed
Last Updated

February 13, 2023

Status Verified

February 1, 2023

Enrollment Period

2.5 years

First QC Date

March 1, 2011

Last Update Submit

February 9, 2023

Conditions

Niemann-Pick DiseaseNiemann-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.
  • Patients of both gender from one day old
  • The patient has a diagnosis of Niemann Pick Type C disease or profound suspicion for Niemann Pick Type C 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

You may not qualify if:

  • No Informed consent from the patient or the parents before any study related procedures.
  • No diagnosis of NPC1/NPC2 or no valid criteria for high-grade suspicion of NPC1/ NPC2

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Centogene AG

Rostock, 18055, Germany

Location

Amrita Institute of Medical Sciences & Research Centre

Kochi, Kerala, 682041, India

Location

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

Mumbai, 400705, India

Location

Lady Ridgeway Hospital for Children

Colombo, 00800c, Sri Lanka

Location

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-CellHistiocytosisLymphatic DiseasesHemic and Lymphatic DiseasesMetabolism, Inborn ErrorsCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipid Metabolism, Inborn ErrorsNutritional and Metabolic Diseases

Study Officials

  • Peter Bauer, Prof.

    Centogene GmbH

    STUDY CHAIR
0

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

Primary Completion

February 28, 2021

Study Completion

February 28, 2021

Last Updated

February 13, 2023

Record last verified: 2023-02

Locations

DE(1)IN(2)SR(1)