NCT03564561|Recruiting
Natural History of Pompe Disease
POMPE
Clinical and Molecular Aspects of Adult Onset Pompe Disease: a Natural History Study
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POMPE
Clinical and Molecular Aspects of Adult Onset Pompe Disease: a Natural History Study
Sponsor study identifier
Secondary identifiers
REGISTRY · N° ID RCB
observational
20
1 country
1
Study Start
June 7, 2019
Actual (reported)Primary Completion
March 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
March 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
The project is a prospective study in which patients affected by adult-onset Pompe disease with c.-32-13T\>G mutation in the GAA gene will be followed-up during two years to describe the natural history using clinical, imaging, histological and molecular parameters. Secondary objectives are:
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
March 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
March 27, 2018
Actual (reported)June 21, 2018
Actual (reported)June 7, 2019
Actual (reported)March 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
March 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
The Six-Minute Walk Test
At baseline
The Six-Minute Walk Test
at 6 months
The Six-Minute Walk Test
at 12 months
The Six-Minute Walk Test
at 18 months
The Six-Minute Walk Test
at 24 months
Moter assessment: quadriceps strength
At baseline, at 6, 12, 18 and 24 months
Moter assessment: : the MFM moter function measure scale
At baseline, at 6, 12, 18 and 24 months
Moter assessment: timed 10 meters run/walk test
At baseline, at 6, 12, 18 and 24 months
Moter assessment: timed test for standing up from sitting position
At baseline, at 6, 12, 18 and 24 months
Moter assessment: timed test for standing up from supine position
At baseline, at 6, 12, 18 and 24 months
Adult patients between 18 and 80 years with adult-onset Pompe disease who carry the common c.-32-13T\>G mutation of GAA gene, treated or not by Myozyme.
Hôpital Raymond Poincaré
Garches, Hauts-de-Seine, 92380, France
Blood, urine, skeletal muscle biopsy, skin biopsy: 1. Blood for serum markers, DNA and white blood cell culture (lymphoblastoid cell line). 2. Skeletal muscle biopsy for histology, RNA and protein analysis, myoblast culture. 3. Skin biopsy for RNA and protein analysis, fibroblast culture. 4. Urine for biomarker analysis.
Helge Amthor, MD, PhD
Hôpital Raymond Poincaré
Pascal Laforêt, MD, PhD
Hôpital Raymond Poincaré
First Submitted
March 27, 2018
First Posted
June 21, 2018
Study Start
June 7, 2019
Actual (reported)Primary Completion
March 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Contact the study team to confirm eligibility.
Study Completion
March 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
April 8, 2024
Record last verified: 2024-04
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Source: ClinicalTrials.gov.
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