Glycogen Storage Disease Type IBNCT05915910
Prospective Collection of Biospecimen in Pediatric Patients and Adult Guardians Diagnosed With Glycogen Storage Disease Type 1B (GSD1b)
An observational study of Glycogen Storage Disease Type IB, run by Sanguine Biosciences at 1 site in United States.
Trial summary
The primary objective of this study is to collect whole blood from patients diagnosed with Glycogen storage disease type 1B, which will be used to support the investigation of potential therapies that address the genetic basis of this disease. Read more about this study
- Who is it for?
- Ages 4 to 85 years
- Conditions the study is for
- Glycogen Storage Disease Type IB
- What is being tested?
- Specimen Donation
- How many people
- 6 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Apr 2023to 13 Mar 2024
- 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 4 to 85 years
- All sexes
- Child, Adult, Older adult
Study population: participants diagnosed with Glycogen storage disease type 1
Who may be able to join
- Subjects ages 4-85
- Subjects that are diagnosed with Glycogen Storage Disease Type Ib (GSD1b, von Gierke disease)
- Subjects who are G339C Homozygous or L348FS Homozygous or G339C/ L348FS heterozygous or are the biological parent of subjects diagnosed with Glycogen Storage Disease Type Ib (GSD1b, von Gierke disease) and are a biological parent of a subject in Cohort 1 (G339C homozygous) or Cohort 2 (L348FS homozygous)
- Subjects or guardians must be willing and able to provide appropriate photo identification to mobile phlebotomist during at-home visit for verification of identity
- Subjects and/or Guardians must be willing and able to provide appropriate written informed consent and/or assent, as applicable
Who cannot join
- Subjects will be excluded if they experienced excess blood loss, including blood donation defined as 250 mL in the last month or 500 mL in the last two months. For subjects in the pediatric population, subjects will be excluded if they experienced excess blood loss, including blood donation defined as 3 mL/kg or up to 50 mL in the last 8-weeks.
- For requests that do not include pregnant subjects, subjects will be excluded if they are pregnant or nursing.
- For requests that do not include subjects with infectious diseases, subjects will be excluded if they have current, active HIV, hepatitis or other infectious diseases (self-reported or medical history reviewed).
- Subjects will be excluded if they have taken an investigational product in the last 30 days.
Trial locations and contacts
1 site in 1 country.
United States1 site
Sanguine BioSciences, Inc.
Woburn, Massachusetts, 01801
About this study
The primary objective of this study is to collect whole blood from patients diagnosed with Glycogen storage disease type 1B, which will be used to support the investigation of potential therapies that address the genetic basis of this disease.
- Conditions
- Glycogen Storage Disease Type IB
- Being tested
- Specimen Donation
- Medical subject headings
- Glycogen Storage Disease IB
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Specimen DonationDiagnostic test
blood donation
| Study group | Role | What they receive |
|---|---|---|
| GSD1b G339C Homozygous (n=3) | Not described Receives: Diagnostic Test: Specimen Donation | |
| GSD1b L348FS Homozygous (n=3) | Not described Receives: Diagnostic Test: Specimen Donation | |
| GSD1b G339C/ L348FS Heterozygous (n=3) | Not described Receives: Diagnostic Test: Specimen Donation | |
| GSD1b Parents (n=6) | Not described Receives: Diagnostic Test: Specimen Donation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Bipspecimen collection from subjects that are diagnosed with Glycogen Storage Disease Type Ib (GSD1b, von Gierke disease); Subjects that are the biological parent of subjects diagnosed with Glycogen Storage Disease Type Ib (GSD1b, von Gierke disease)
Bipspecimen collection from subjects or their parental guardians that are diagnosed with Glycogen Storage Disease Type Ib(GSD1b, von Gierke disease) for the purpose to analyze the biospecimens to support the investigation of potential therapies that address the genetic basis of this disease. The primary outcome measure is the collection of biospecimens for quantitative analysis using PBMC processes to report cell viability of at least 5M cells per vial.
Measured: 1 Year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Jun 2023
- Study start27 Apr 2023
- Primary completion13 Mar 2024
- Study completion13 Mar 2024
Why it stopped: Unable to recruit additional subjects due to disease rarity
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Glycogen Storage Disease Type IBStudies 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
- Other
- Time perspective
- Prospective
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sanguine Biosciences
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05915910
- Sponsor's protocol ID
- SAN-09747
- Status last verified
- Apr 2024
- First submitted
- 14 Jun 2023
- Last updated
- 19 Apr 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Collection of Biospecimen in Pediatric Patients and Adult Guardians Diagnosed With Glycogen Storage Disease Type 1B (GSD1b)
- ClinicalTrials.gov ID
- NCT05915910
- Acronym / sponsor ID
- SAN-09747
- Conditions
- Glycogen Storage Disease Type IB
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Unable to recruit additional subjects due to disease rarity
- Enrolment
- 6 participants (actual)
- Lead sponsor
- Sanguine BiosciencesIndustry (pharma, biotech, devices)
- Study start
- 27 Apr 2023 (actual)
- Primary completion
- 13 Mar 2024 (actual)
- Study completion
- 13 Mar 2024 (actual)
- First posted
- 23 Jun 2023 (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.
The primary objective of this study is to collect whole blood from patients diagnosed with Glycogen storage disease type 1B, which will be used to support the investigation of potential therapies that address the genetic basis of this disease.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| GSD1b G339C Homozygous (n=3) | – | Diagnostic Test: Specimen Donation |
| GSD1b L348FS Homozygous (n=3) | – | Diagnostic Test: Specimen Donation |
| GSD1b G339C/ L348FS Heterozygous (n=3) | – | Diagnostic Test: Specimen Donation |
| GSD1b Parents (n=6) | – | Diagnostic Test: Specimen Donation |
Who may qualify
- Ages
- 4 to 85 years
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- participants diagnosed with Glycogen storage disease type 1
Key inclusion criteria (5 listed)
- Subjects ages 4-85
- Subjects that are diagnosed with Glycogen Storage Disease Type Ib (GSD1b, von Gierke disease)
- Subjects who are G339C Homozygous or L348FS Homozygous or G339C/ L348FS heterozygous or are the biological parent of subjects diagnosed with Glycogen Storage Disease Type Ib (GSD1b, von Gierke disease) and are a biological parent of a subject in Cohort 1 (G339C homozygous) or Cohort 2 (L348FS homozygous)
- Subjects or guardians must be willing and able to provide appropriate photo identification to mobile phlebotomist during at-home visit for verification of identity
- Subjects and/or Guardians must be willing and able to provide appropriate written informed consent and/or assent, as applicable
Key exclusion criteria (4 listed)
- Subjects will be excluded if they experienced excess blood loss, including blood donation defined as 250 mL in the last month or 500 mL in the last two months. For subjects in the pediatric population, subjects will be excluded if they experienced excess blood loss, including blood donation defined as 3 mL/kg or up to 50 mL in the last 8-weeks.
- For requests that do not include pregnant subjects, subjects will be excluded if they are pregnant or nursing.
- For requests that do not include subjects with infectious diseases, subjects will be excluded if they have current, active HIV, hepatitis or other infectious diseases (self-reported or medical history reviewed).
- Subjects will be excluded if they have taken an investigational product in the last 30 days.
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 |
|---|---|---|
| Specimen Donationblood donation | Diagnostic test | GSD1b G339C Homozygous (n=3), GSD1b G339C/ L348FS Heterozygous (n=3), GSD1b L348FS Homozygous (n=3), GSD1b Parents (n=6) |
Primary outcome
Bipspecimen collection from subjects that are diagnosed with Glycogen Storage Disease Type Ib (GSD1b, von Gierke disease); Subjects that are the biological parent of subjects diagnosed with Glycogen Storage Disease Type Ib (GSD1b, von Gierke disease)
Time frame: 1 Year
Bipspecimen collection from subjects or their parental guardians that are diagnosed with Glycogen Storage Disease Type Ib(GSD1b, von Gierke disease) for the purpose to analyze the biospecimens to support the investigation of potential therapies that address the genetic basis of this disease. The primary outcome measure is the collection of biospecimens for quantitative analysis using PBMC processes to report cell viability of at least 5M cells per vial.
Results and safety
The study was stopped early (reason given: Unable to recruit additional subjects due to disease rarity). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Apr 2024.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Glycogen Storage Disease Type IB, run by Sanguine Biosciences 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 5 inclusion and 4 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: stopped early, as of the sponsor's last update on 19 Apr 2024. 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?
The study was stopped early (reason given: Unable to recruit additional subjects due to disease rarity). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Bipspecimen collection from subjects that are diagnosed with Glycogen Storage Disease Type Ib (GSD1b, von Gierke disease); Subjects that are the biological parent of subjects diagnosed with Glycogen Storage Disease Type Ib (GSD1b, von Gierke disease) (time frame: 1 Year). 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 Apr 2024; AzTrials last refreshed its copy on 8 Nov 2026.