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.|
|ClinicalTrials.gov Identifier: NCT01457443|
Recruitment Status : Not yet recruiting
First Posted : October 24, 2011
Last Update Posted : August 28, 2018
|Condition or disease|
|Cardiac Diseases Muscular Weakness Hepato-splenomegaly Lung Disease Obstructive Sleep Apnoea Macroglossia Cerebral Aneurysm|
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|
|Official Title:||Biomarker for Pompe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGI-CAL PROTOCOL|
|Estimated Study Start Date :||August 20, 2018|
|Estimated Primary Completion Date :||August 2021|
|Estimated Study Completion Date :||August 2021|
Patients with Pompe disease
- Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe disease from plasma [ Time Frame: 24 month ]
- 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
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 ClinicalTrials.gov identifier (NCT number): NCT01457443
|Contact: Anton Mamin, Dr.||+49 381 80113 535||Anton.Mamin@centogene.com|
|Contact: Volha Skrahina||+49 381 80 113 594||Volha.Skrahina@centogene.com|
|Clinics Hospital of Ribeirao Preto- University of Sao Paulo||Not yet recruiting|
|Sao Paulo, Brazil, 14048-900|
|Contact: Charles Marques Lourenco, MD email@example.com|
|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 firstname.lastname@example.org|
|Contact: Susanne Zielke 49 381 494 ext 4739 email@example.com|
|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 firstname.lastname@example.org|
|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 email@example.com|
|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 firstname.lastname@example.org|
|Principal Investigator: Omid Aryani, MD|
|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 email@example.com|
|Principal Investigator: Nouriya Abbas Al-Sannaa, MD|
|Principal Investigator:||Arndt Rolfs, Prof.||Centogene AG Rostock|