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

NCT ID: NCT05915910

Last Updated: 2024-04-19

Basic Information

• Recruitment Status: TERMINATED
• Total Enrollment: 6 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-04-27
• Study Completion Date: 2024-03-13

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

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: PROSPECTIVE

Study Groups

GSD1b G339C Homozygous (n=3)

Specimen Donation

Intervention Type: DIAGNOSTIC_TEST

blood donation

GSD1b L348FS Homozygous (n=3)

Specimen Donation

Intervention Type: DIAGNOSTIC_TEST

blood donation

GSD1b G339C/ L348FS Heterozygous (n=3)

Specimen Donation

Intervention Type: DIAGNOSTIC_TEST

blood donation

GSD1b Parents (n=6)

Specimen Donation

Intervention Type: DIAGNOSTIC_TEST

blood donation

Interventions

Specimen Donation

blood donation

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

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.

• Minimum Eligible Age: 4 Years
• Maximum Eligible Age: 85 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Sanguine Biosciences

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Sanguine BioSciences, Inc.

Woburn, Massachusetts, United States

Countries

United States

Other Identifiers

SAN-09747

Identifier Type: -

Identifier Source: org_study_id