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

NCT05915910 | Terminated

• 1 other identifier: SAN-09747
• Study Type: observational
• Target: 6
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Glycogen Storage Disease Type IB

Outcome Measures

Primary Outcomes (1)

• 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.

  1 Year

Study Arms (4)

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

Interventions

Specimen Donation DIAGNOSTIC_TEST

blood donation

GSD1b G339C Homozygous (n=3); GSD1b G339C/ L348FS Heterozygous (n=3); GSD1b L348FS Homozygous (n=3); GSD1b Parents (n=6)

Eligibility Criteria

• Age: 4 Years - 85 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

participants diagnosed with Glycogen storage disease type 1

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Sanguine Biosciences: lead

Study Sites (1)

Sanguine BioSciences, Inc.

Woburn, Massachusetts, 01801, United States

Location

MeSH Terms

Conditions

Glycogen Storage Disease IB

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 14, 2023
• First Posted: June 23, 2023
• Study Start: April 27, 2023
• Primary Completion: March 13, 2024
• Study Completion: March 13, 2024
• Last Updated: April 19, 2024

Record last verified: 2024-04

Locations

US (1)