Pompe DiseaseNCT04476550
Clinical Specimen Collection From Pompe Disease Patients
An observational study of Pompe Disease, run by Serhat Gumrukcu, MD PhD at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 to 30 years
- Conditions the study is for
- Pompe Disease
- What is being tested?
- Filgrastim
- How many people
- 12 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Sep 2022to 31 May 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 30 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Otherwise healthy individuals diagnosed with Pompe Disease.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Seraph Research Institute
Toluca Lake, California, 91602
Anna Hurtado, 424-274-3211, anna@seraphmd.com
About this study
Official title: 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.
Read the 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
- Being tested
- Filgrastim
- Keywords
- Pompe, Pompe Disease, HSPC, modified bone marrow stem cell
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
FilgrastimDrug
Also called Granulocyte-Colony Stimulating Factor (G-CSF)
5 days of daily sub-cutaneous administration of 10mcg/kg filgrastim
What is being measured
The primary outcome is the main question the study is designed to answer.
Collection of blood
Collection of peripheral blood (up to 20ml)
Measured: Up to 20 days
Secondary outcomes (1)
Collection of HSPCs
Collection of HSPCs through G-CSF mobilized leukapheresis
Measured: Up to 100 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jul 2020
- Study start1 Sep 2022 (estimated)
- Primary completion1 Mar 2023 (estimated)
- Study completion31 May 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 12 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Serhat Gumrukcu, MD PhD
- Sponsor type
- University, hospital or other
- Collaborators
- Frida Therapeutics LLC
- Responsible party
- Sponsor-investigator, Serhat Gumrukcu, MD PhD, Seraph Research Institute
- Investigators
- Serhat Gumrukcu, MD PhD, Principal investigator, Seraph Research Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04476550
- Sponsor's protocol ID
- SRPH-LP-02/PoD
- Status last verified
- May 2022
- First submitted
- 26 Feb 2020
- Last updated
- 19 May 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Developing a Potential Cure for Pompe Disease: Clinical Specimen Collection From Individuals With Pompe Disease
- ClinicalTrials.gov ID
- NCT04476550
- Acronym / sponsor ID
- SRPH-LP-02/PoD
- Conditions
- Pompe Disease
- Keywords
- Pompe, Pompe Disease, HSPC, modified bone marrow stem cell
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 12 participants (estimated)
- Lead sponsor
- Serhat Gumrukcu, MD PhDUniversity, hospital or other
- Collaborators
- Frida Therapeutics LLC
- Study start
- 1 Sep 2022 (estimated)
- Primary completion
- 1 Mar 2023 (estimated)
- Study completion
- 31 May 2023 (estimated)
- First posted
- 20 Jul 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 3 to 30 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Otherwise healthy individuals diagnosed with Pompe Disease.
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (8 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| FilgrastimAlso: Granulocyte-Colony Stimulating Factor (G-CSF)5 days of daily sub-cutaneous administration of 10mcg/kg filgrastim | Drug | – |
Primary outcome
Collection of blood
Time frame: Up to 20 days
Collection of peripheral blood (up to 20ml)
1 secondary outcome
Collection of HSPCs
Time frame: Up to 100 days
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 May 2022.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Serhat Gumrukcu, MD PhD principal investigator
Seraph Research Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe Disease, run by Serhat Gumrukcu, MD PhD at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 19 May 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Gregory T Howell, BA Psy (424-274-3211, greg@seraphmed.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collection of blood (time frame: Up to 20 days). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 May 2022; AzTrials last refreshed its copy on 6 Nov 2026.