NCT04476550

Clinical Specimen Collection From Pompe Disease Patients

Developing a Potential Cure for Pompe Disease: Clinical Specimen Collection From Individuals With Pompe Disease

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 12 (estimated)
• Sponsor: Serhat Gumrukcu, MD PhD · Academic / Other
• Sex: All
• Age: 3 Years – 30 Years
• Healthy volunteers: Not accepted

Summary

Clinical specimens are required from individuals with Pompe Disease to support process and analytical development for a genetically modified autologous bone marrow cell product currently in preclinical research, FTX-PD01. The intent is for this product to be investigated in a subsequent clinical trial under a future FDA IND to treat Pompe Disease. Enrolled participants provide a venous blood specimen (approximately 20mL) to be used in preclinical studies and research and development of FTX-PD01. Subjects may eventually be asked to undergo mobilized leukapheresis for bone marrow stem cell collection and their specimens will be used to further develop the FTX-PD01 cell product, including a cGMP compliant process to be applied under the future FDA IND.

Detailed description

This protocol is to collect blood and HSPC specimens from individuals with Pompe Disease. The first blood draw will be done at the first study visit and if eligible, the second collection will be done via mobilized leukapheresis at the second visit. The mobilized leukapheresis procedures will follow the facility's standard operating procedures and protocol requirements for mobilized leukapheresis. Donors will be males or females between and including the ages of 3 years and 30 years. Volunteers will provide written informed consent and meet all inclusion and exclusion criteria. Each participant can be in the study for up to 120 days (3 months). The study will be conducted in accordance with human research for the purposes of obtaining clinical specimens for research. There is no endpoint for this study, however, data collected from this study will include, but not be limited to, gender, demographics, medical history, clinical laboratory values, and volume of the blood collected. The data will be summarized in future studies reporting results from a future clinical trial under FDA IND.

Conditions

• Pompe Disease

Interventions

Type	Name	Description
DRUG	Filgrastim	5 days of daily sub-cutaneous administration of 10mcg/kg filgrastim

Timeline

• Start date: 2022-09-01
• Primary completion: 2023-03-01
• Completion: 2023-05-31
• First posted: 2020-07-20
• Last updated: 2022-05-19

Locations

1 site across 1 country: United States