Biomarker for Pompe Disease (BioPompe)

NCT01457443 | Withdrawn

• 1 other identifier: BP 06-2018
• Study Type: observational
• Target: N/A
• Locations: 3 countries
• Sites: 4

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe disease from blood (plasma)

Conditions

Cardiac Diseases; Muscular Weakness; Hepato-splenomegaly; Lung Disease; Obstructive Sleep Apnoea; Macroglossia; Cerebral Aneurysm

Keywords

Pompe Disease; Biomarker

Outcome Measures

Primary Outcomes (1)

• Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe 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 Pompe disease

Eligibility Criteria

• Age: 12 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with Pompe disease

You may qualify if:

• Informed consent will be obtained from the patient or the parents before any study related procedures.
• Patients older than 12 months
• The patient has a diagnosis of Pompe disease

You may not qualify if:

• No Informed consent from the patient or the parents before any study related procedures
• Patients younger than 12 months
• The patient has no diagnosis of Pompe disease

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

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, maximal 10 ml blood will be taken from the patient via using a dry blood spot filter card. To proof the correct Pompe diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Pompe will be done as rou-tine diagnostic. The analyses will be done at the: Centogene AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

Heart Diseases; Muscle Weakness; Lung Diseases; Sleep Apnea, Obstructive; Macroglossia; Intracranial Aneurysm; Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Cardiovascular Diseases; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Manifestations; Neurologic Manifestations; Nervous System Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Respiratory Tract Diseases; Sleep Apnea Syndromes; Apnea; Respiration Disorders; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Tongue Diseases; Mouth Diseases; Stomatognathic Diseases; Intracranial Arterial Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Aneurysm; Vascular Diseases; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

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: October 21, 2011
• First Posted: October 24, 2011
• Study Start: August 20, 2018
• Primary Completion: December 31, 2021
• Study Completion: December 31, 2021
• Last Updated: February 13, 2023

Record last verified: 2023-02

Locations

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