Clinical Specimen Collection From Pompe Disease Patients

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

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.

Study Overview

• Status: Recruiting
• Conditions: Pompe Disease
• Intervention / Treatment: 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.

• Study Type: Observational
• Enrollment (Anticipated): 12

Contacts and Locations

• Study Contact: Name: Gregory T Howell, BA Psy; Phone Number: 424-274-3211; Email: greg@seraphmed.com

Study Locations

• United States
  • California
    • Toluca Lake, California, United States, 91602
      • Recruiting
      • Seraph Research Institute
      • Contact: Anna Hurtado; Phone Number: 424-274-3211; Email: anna@seraphmd.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years to 30 years (ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Otherwise healthy individuals diagnosed with Pompe Disease.

Description

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

Study Plan

How is the study designed?

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Serhat Gumrukcu, MD PhD
• Collaborators: Frida Therapeutics LLC

Study record dates

Study Major Dates

• Study Start (ANTICIPATED): September 1, 2022
• Primary Completion (ANTICIPATED): March 1, 2023
• Study Completion (ANTICIPATED): May 31, 2023

Study Registration Dates

• First Submitted: February 26, 2020
• First Submitted That Met QC Criteria: July 14, 2020
• First Posted (ACTUAL): July 20, 2020

Study Record Updates

• Last Update Posted (ACTUAL): May 19, 2022
• Last Update Submitted That Met QC Criteria: May 17, 2022
• Last Verified: May 1, 2022

More Information

Terms related to this study

• Keywords: Pompe Disease; Pompe; HSPC; modified bone marrow stem cell
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Glycogen Storage Disease Type II; Physiological Effects of Drugs; Immunologic Factors; Adjuvants, Immunologic; Lenograstim
• Other Study ID Numbers: SRPH-LP-02/PoD

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No