Clinical Specimen Collection From Pompe Disease Patients

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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Pompe Disease

Intervention / Treatment
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* Drug: Filgrastim


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Male of female aged 3-30 Documented diagnosis of Pompe Disease Participants who has not participated in a cell or gene therapy trial for Pompe Disease Exclusion Criteria: Active acute infection at screening Uncontrolled diabetes Uncontrolled hypertension Active DIC, bleeding or coagulopathy which cannot be corrected with minimal intervention Symptomatic, uncontrolled or severe intercurrent illness that would compromise the ability to tolerate blood collection or mobilized leukapheresis procedure Systemic chemotherapy less than or equal to 2 weeks (6 weeks for clofarabine or nitrosoureas) or radiation therapy less than or equal to 3 weeks prior to leukapheresis Pregnant or nursing (lactating) women, where pregnancy is defined as the state of a female after conception and until the termination of gestation, confirmed by a positive hCG laboratory test at screening Any patient that in the opinion of the investigator is not medically stable to undergo the leukapheresis procedure or will not comply with the visit schedules or procedures

Ages Eligible for Study
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Minimum Age: 3 Years
Maximum Age: 30 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Drug: Filgrastim|5 days of daily sub-cutaneous administration of 10mcg/kg filgrastim|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Collection of blood | Collection of peripheral blood (up to 20ml) | Up to 20 days | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Collection of HSPCs | Collection of HSPCs through G-CSF mobilized leukapheresis | Up to 100 days | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Pompe, Pompe Disease, HSPC, modified bone marrow stem cell