Prospective Collection of Biospecimen in Pediatric Patients and Adult Guardians Diagnosed With Glycogen Storage Disease Type 1B (GSD1b)

April 16, 2024 updated by: Sanguine Biosciences
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 Overview

Status

Terminated

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

6

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Massachusetts
      • Woburn, Massachusetts, United States, 01801
        • Sanguine BioSciences, Inc.

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

participants diagnosed with Glycogen storage disease type 1

Description

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
GSD1b G339C Homozygous (n=3)
Diagnostic test: Specimen Donation
blood donation
GSD1b L348FS Homozygous (n=3)
Diagnostic test: Specimen Donation
blood donation
GSD1b G339C/ L348FS Heterozygous (n=3)
Diagnostic test: Specimen Donation
blood donation
GSD1b Parents (n=6)
Diagnostic test: Specimen Donation
blood donation

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
1 Year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sanguine Biosciences

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 27, 2023

Primary Completion (Actual)

March 13, 2024

Study Completion (Actual)

March 13, 2024

Study Registration Dates

First Submitted

June 14, 2023

First Submitted That Met QC Criteria

June 14, 2023

First Posted (Actual)

June 23, 2023

Study Record Updates

Last Update Posted (Actual)

April 19, 2024

Last Update Submitted That Met QC Criteria

April 16, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • SAN-09747

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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