GLUT1 deficiency syndrome
Information
- Disease name
- GLUT1 deficiency syndrome
- Disease ID
- Description
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| SLC2A1 | 1 | 42,925,353 | 42,958,868 | 28 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03722212 | Completed | N/A | Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test | September 24, 2018 | July 9, 2021 |
| NCT02014883 | Completed | Phase 2 | Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS | December 4, 2013 | July 4, 2019 |
| NCT02018315 | Completed | Phase 1 | Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) | January 2012 | March 2014 |
| NCT04112862 | Completed | Early Phase 1 | Sodium Lactate Infusion in GLUT1DS Patients | May 20, 2022 | November 18, 2022 |
| NCT02018302 | No longer available | Post Study Continuation of C7 for G1D | |||
| NCT02013583 | Recruiting | The Glucose Transporter Type I Deficiency (G1D) Registry | December 2013 | December 2032 | |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT02021526 | Withdrawn | Phase 1/Phase 2 | Triheptanoin (C7 Oil), a Food Supplement, for Glucose Transporter Type I Deficiency (G1D) | December 2015 | June 2020 |
- OMIM Phenotype Series Number (OMIM)
- PS606777