Pompe Disease
Conditions
Interventions
None listed
Sponsors
Muscular Dystrophy Clinical Trial Network
- National Hospital Organization Higashisaitama Hospital - National Center of Neurology and Psychiatry - National Center for Child Health and Development
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Candidate patient who is eligible for inclusion is under receiving medical check in your hospital (no matter of outpatient and inpatient) and to fulfill following criteria: a)-c) a) Older than 1 year old. b) Fulfill following either or both conditions; b-1) Muscle weakness which is considered clinically due to muscle disorders b-2) High level of CK which is considered clinically due to muscle disorders c) There is no clinical feature and medical results that indicate other disorders which shows b-1) and b-2) so far. Study object must have fulfilled all of inclusion criteria a)-c) and able to obtain informed consent from patient or legally authorized representative for medical test and collecting clinical information in this study.
Exclusion criteria
Exclusion criteria: No exclusion criteria in this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of patients who showed decreased GAA activity at secondary test with lymphocyte as well as homozygous mutation of GAA gene ("definitive diagnosis group"). | — |
Secondary
| Measure | Time frame |
|---|---|
| - Number of patients who did not show decreased GAA activity at secondary test with lymphocyte and/or homozygous mutation of GAA gene ("suspected diagnosis group"). - Difference of clinical information from "definitive diagnosis group", "suspected diagnosis group", and "exclusion group" that did not show decreased GAA activity at primary test. | — |
Countries
Japan
Contacts
Public ContactMikiko Shigemori
Muscular Dystrophy Clinical Trial Network Secretariat Ofifce
Outcome results
None listed