Biomarker for Pompe Disease (BIOPOMPE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01457443
Recruitment Status : Not yet recruiting
First Posted : October 24, 2011
Last Update Posted : August 28, 2018
Information provided by (Responsible Party):
Centogene AG Rostock

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

Condition or disease
Cardiac Diseases Muscular Weakness Hepato-splenomegaly Lung Disease Obstructive Sleep Apnoea Macroglossia Cerebral Aneurysm

Detailed Description:

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder 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. Re-searchers 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 disease 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 recommended. 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.

Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Estimated Study Start Date : August 20, 2018
Estimated Primary Completion Date : August 2021
Estimated Study Completion Date : August 2021

Patients with Pompe disease

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

Secondary Outcome Measures :
  1. 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, 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

Information from the National Library of Medicine

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Ages Eligible for Study:   12 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Pompe disease

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

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01457443

Contact: Anton Mamin, Dr. +49 381 80113 535
Contact: Volha Skrahina +49 381 80 113 594

Clinics Hospital of Ribeirao Preto- University of Sao Paulo Not yet recruiting
Sao Paulo, Brazil, 14048-900
Contact: Charles Marques Lourenco, MD   
Principal Investigator: Charles Marques Lourenco, MD         
University of Rostock, Albrecht-Kossel-Istitute Not yet 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 Not yet 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 Not yet 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 Not yet 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
Centogene AG Rostock
Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock

Additional Information:
Responsible Party: Centogene AG Rostock Identifier: NCT01457443     History of Changes
Other Study ID Numbers: BP 06-2018
First Posted: October 24, 2011    Key Record Dates
Last Update Posted: August 28, 2018
Last Verified: June 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Centogene AG Rostock:
Pompe Disease

Additional relevant MeSH terms:
Genetic Diseases, Inborn
Sleep Apnea, Obstructive
Lung Diseases
Glycogen Storage Disease Type II
Heart Diseases
Intracranial Aneurysm
Muscle Weakness
Sleep Apnea Syndromes
Respiration Disorders
Respiratory Tract Diseases
Sleep Disorders, Intrinsic
Sleep Wake Disorders
Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Metabolism, Inborn Errors
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases