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Clinical Specimen Collection From Pompe Disease Patients

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ClinicalTrials.gov Identifier: NCT04476550
Recruitment Status : Recruiting
First Posted : July 20, 2020
Last Update Posted : May 19, 2022
Frida Therapeutics LLC
Information provided by (Responsible Party):
Serhat Gumrukcu, MD PhD, Seraph Research Institute

Brief 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.

Condition or disease Intervention/treatment
Pompe Disease Drug: Filgrastim

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.

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Study Type : Observational
Estimated Enrollment : 12 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Developing a Potential Cure for Pompe Disease: Clinical Specimen Collection From Individuals With Pompe Disease
Estimated Study Start Date : September 1, 2022
Estimated Primary Completion Date : March 1, 2023
Estimated Study Completion Date : May 31, 2023

Intervention Details:
  • Drug: Filgrastim
    5 days of daily sub-cutaneous administration of 10mcg/kg filgrastim
    Other Name: Granulocyte-Colony Stimulating Factor (G-CSF)

Primary Outcome Measures :
  1. Collection of blood [ Time Frame: Up to 20 days ]
    Collection of peripheral blood (up to 20ml)

Secondary Outcome Measures :
  1. Collection of HSPCs [ Time Frame: Up to 100 days ]
    Collection of HSPCs through G-CSF mobilized leukapheresis

Biospecimen Retention:   Samples With DNA
Mononuclear cells with GAA gene mutation

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Years to 30 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Otherwise healthy individuals diagnosed with Pompe Disease.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04476550

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Contact: Gregory T Howell, BA Psy 424-274-3211 greg@seraphmed.com

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United States, California
Seraph Research Institute Recruiting
Toluca Lake, California, United States, 91602
Contact: Anna Hurtado    424-274-3211    anna@seraphmd.com   
Sponsors and Collaborators
Serhat Gumrukcu, MD PhD
Frida Therapeutics LLC
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Principal Investigator: Serhat Gumrukcu, MD PhD Seraph Research Institute
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Responsible Party: Serhat Gumrukcu, MD PhD, Sponsor-Investigator, Seraph Research Institute
ClinicalTrials.gov Identifier: NCT04476550    
Other Study ID Numbers: SRPH-LP-02/PoD
First Posted: July 20, 2020    Key Record Dates
Last Update Posted: May 19, 2022
Last Verified: May 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Serhat Gumrukcu, MD PhD, Seraph Research Institute:
Pompe Disease
modified bone marrow stem cell
Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Adjuvants, Immunologic
Immunologic Factors
Physiological Effects of Drugs