Biomarker for Krabbe Disease (BioKrabbe)

NCT01425489 | Withdrawn

• 1 other identifier: BK 06-2018
• Study Type: observational
• Target: N/A
• Locations: 4 countries
• Sites: 5

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Krabbe Disease from blood

Conditions

Krabbe Disease

Keywords

Krabbe Disease; Biomarker

Outcome Measures

Primary Outcomes (1)

• Development of a new MS-based biomarker for the early and sensitive diagnosis of Krabbe disease from 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 with Krabbe Disease

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with Krabbe Disease

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 year old
• The patient has a diagnosis of Krabbe Disease

You may not qualify if:

• No Informed consent from the patient or the parents before any study related procedures.
• Patients younger than one year
• The patient has no diagnosis of Krabbe Disease

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (5)

Children's Hospital, Faculty of Medicine, Ain Shams University

Cairo, 55131, Egypt

Location

Centogene AG

Rostock, 18055, Germany

Location

Amrita Institute of Medical Sciences

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 10 ml EDTA blood and a dry blood spot filter card are taken. To proof the correct Krabbe diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Krabbe will be done as routine diagnostic. The analyses will be done at the Centogene AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

Leukodystrophy, Globoid Cell

Condition Hierarchy (Ancestors)

Hereditary Central Nervous System Demyelinating Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Leukoencephalopathies; Demyelinating Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Peter Bauer, Prof.

  Centogene GmbH

  STUDY CHAIR

Study Design

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

Study Record Dates

• First Submitted: August 29, 2011
• First Posted: August 30, 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

EG (1); SR (1); IN (2); DE (1)