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Biomarker for Pompe Disease (BioPompe)

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2017 by University of Rostock
Centogene AG Rostock
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock Identifier:
First received: October 21, 2011
Last updated: May 3, 2017
Last verified: May 2017
Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe disease from plasma.

Lysosomal Storage Diseases
Pompe Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective

Resource links provided by NLM:

Further study details as provided by University of Rostock:

Primary Outcome Measures:
  • Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe disease from plasma and saliva [ Time Frame: 24 month ]

Secondary Outcome Measures:
  • Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 24 month ]

Biospecimen Retention:   Samples With DNA
For the development of the new biomarkers using the technique of Mass-spectometry 7,5 ml EDTA blood,sputum tube and a dry blood spot filter card are taken. 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. The analyses are done in the Albrecht-Kossel-Institute for Neuroregeneration (AKos), POB 100 888, Gehlsheimer Str. 20, 18055 Rostock (Germany)

Estimated Enrollment: 80
Study Start Date: October 2011
Estimated Study Completion Date: November 2018
Estimated Primary Completion Date: October 2018 (Final data collection date for primary outcome measure)
Patients with Pompe disease at 12 months based upon biochemical and/or genetic criteria

Detailed Description:

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal dis-order that disables the heart and muscles. It is caused by mutations in a gene that encodes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, the long-term storage form of sugar, into glucose, which the body can utilize to gain energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate the activity of this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 70 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.

Early onset (or infantile) Pompe disease is the result of complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. More than half of all infants with Pompe dis-ease also have enlarged tongues. Most babies with Pompe disease die from cardiac or respiratory complications before their first birthday.

Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years. The heart may be involved but it will not be grossly enlarged. A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample -- a test that has 100 percent accuracy. Once Pompe disease is diagnosed, testing of all family members and consultation with a professional geneticist is re-commended. Carriers are most reliably identified via genetic mutation analysis.

New methods, like mass-spectrometry 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. Therefore it is the goal of the study to develop new biochemical markers from the plasma of the affected patients helping to benefit the patient by an early diagnose and thereby with an earlier treatment.


Ages Eligible for Study:   12 Months and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Pompe Disease based upon biochemical and/or genetic criteria

Inclusion Criteria:

  • 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 based upon biochemical and/or genetic criteria

Exclusion Criteria:

  • 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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01457443

Contact: Arndt Rolfs, MD 49 381 494 ext 9540
Contact: Susanne Zielke 49 381 494 ext 4739

Clinics Hospital of Ribeirao Preto- University of Sao Paulo Recruiting
Sao Paulo, Brazil, 14048-900
Contact: Charles Marques Lourenco, MD   
Principal Investigator: Charles Marques Lourenco, MD         
University of Rostock, Albrecht-Kossel-Istitute Recruiting
Rostock, Germany, 18147
Contact: Arndt Rolfs, MD    49 381 494 ext 9540   
Contact: Susanne Zielke    49 381 494 ext 4739   
Principal Investigator: Arndt Rolfs, MD         
Aristotle University of Thessaloniki-Department of Pediatrics Recruiting
Thessaloniki, Greece, 54622
Contact: Dimitrios Zafeiriou, MD    +30 2310 241 ext 845   
Principal Investigator: Dimitrios Zafeiriou, MD         
NIRMAN-University of Mumbai-Institute of Research in Mental and Neurological handicap Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, MD    +91226791 02 ext 36   
Principal Investigator: Anil Jalan, MD         
Iran, Islamic Republic of
Special Medical Center Not yet recruiting
Tehran, Iran, Islamic Republic of
Contact: Omid Aryani, MD    +98 (21) 8891 ext 3544   
Principal Investigator: Omid Aryani, MD         
Saudi Arabia
Dhahran Health Center- Saudi Aramco Medical Services Recruiting
Dhahran, Saudi Arabia, 31111
Contact: Nouriya Abbas Al-Sannaa, MD    +966 3 877 ext 8290   
Principal Investigator: Nouriya Abbas Al-Sannaa, MD         
Sponsors and Collaborators
University of Rostock
Centogene AG Rostock
Study Chair: Arndt Rolfs, Prof Albrecht-Kossel-Institute for Neuroregeneration (AKos) Centre for Mental Health Disease University of Rostock
  More Information

Additional Information:
Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock Identifier: NCT01457443     History of Changes
Other Study ID Numbers: BP09/2011
Study First Received: October 21, 2011
Last Updated: May 3, 2017
Individual Participant Data  
Plan to Share IPD: Undecided

Keywords provided by University of Rostock:
Glycogen Storage Disease
Glycogen Storage Disease Type II
Metabolic Diseases
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases, Nervous System

Additional relevant MeSH terms:
Genetic Diseases, Inborn
Glycogen Storage Disease Type II
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Metabolic Diseases processed this record on May 22, 2017