Clinical Specimen Collection From Pompe Disease Patients

NCT04476550 | Unknown DMC

• 1 other identifier: SRPH-LP-02/PoD
• Study Type: observational
• Target: 12
• Locations: 1 country
• Sites: 1

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.

Conditions

Pompe Disease

Keywords

Pompe; Pompe Disease; HSPC; modified bone marrow stem cell

Outcome Measures

Primary Outcomes (1)

• Collection of blood

  Collection of peripheral blood (up to 20ml)

  Up to 20 days

Secondary Outcomes (1)

• Collection of HSPCs

  Up to 100 days

Interventions

Filgrastim DRUG

5 days of daily sub-cutaneous administration of 10mcg/kg filgrastim

Also known as: Granulocyte-Colony Stimulating Factor (G-CSF)

Eligibility Criteria

• Age: 3 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Otherwise healthy individuals diagnosed with Pompe Disease.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Serhat Gumrukcu, MD PhD: lead
• Frida Therapeutics LLC: collaborator

Study Sites (1)

Seraph Research Institute

Toluca Lake, California, 91602, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Mononuclear cells with GAA gene mutation

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

Filgrastim; Granulocyte Colony-Stimulating Factor

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Colony-Stimulating Factors; Glycoproteins; Glycoconjugates; Carbohydrates; Hematopoietic Cell Growth Factors; Cytokines; Intercellular Signaling Peptides and Proteins; Peptides; Amino Acids, Peptides, and Proteins; Proteins; Biological Factors

Study Officials

• Serhat Gumrukcu, MD PhD

  Seraph Research Institute

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Gregory T Howell, BA Psy

CONTACT

424-274-3211; greg@seraphmed.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Sponsor-Investigator

Study Record Dates

• First Submitted: February 26, 2020
• First Posted: July 20, 2020
• Study Start: September 1, 2022
• Primary Completion: March 1, 2023
• Study Completion: May 31, 2023
• Last Updated: May 19, 2022

Record last verified: 2022-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)