Bio Spec Overview
Ignite Creation Date:
2025-12-25 @ 3:21 AM
Last Modification Date:
2025-12-25 @ 3:21 AM
Retention:
SAMPLES_WITH_DNA
Description:
* 5 ml sample of whole blood will be collected during the study to assess the immunity against various AAV serotypes
* 5 ml blood sample may be obtained for peripheral blood mononuclear cells (PBMC) to quantify X-linked myotubular myopathy gene 1 (MTM1) production
* 24-hour urine collection will be performed every 6 months in order to measure urinary creatinine excretion
* Slides and tissue from a previously performed muscle biopsy will be obtained for a central review and quantification of histo- and immunohistopathological features of MTM
* 5 ml blood sample may be obtained for peripheral blood mononuclear cells (PBMC) to quantify X-linked myotubular myopathy gene 1 (MTM1) production
* 24-hour urine collection will be performed every 6 months in order to measure urinary creatinine excretion
* Slides and tissue from a previously performed muscle biopsy will be obtained for a central review and quantification of histo- and immunohistopathological features of MTM
Section:
* 5 ml sample of whole blood will be collected during the study to assess the immunity against various AAV serotypes
* 5 ml blood sample may be obtained for peripheral blood mononuclear cells (PBMC) to quantify X-linked myotubular myopathy gene 1 (MTM1) production
* 24-hour urine collection will be performed every 6 months in order to measure urinary creatinine excretion
* Slides and tissue from a previously performed muscle biopsy will be obtained for a central review and quantification of histo- and immunohistopathological features of MTM