Glycogen Storage Disease Type Ia
Conditions
Keywords
Glycogen Storage Disease type Ia, Blood lactate, Glycogen Storage Disease Ia blood glucose, GSD I, GSDIa, Blood glucose, Accu chek glucometer, Lactate plus
Brief summary
The goal of this observational study is to determine if home lactate meters (both capillary and serum sample) are accurate, compared to lab serum lactate in a population of patients with glycogen storage disease type 1a and to determine if the Accu Chek Guide glucometer (capillary sample) is accurate, in a population of patients with glycogen storage disease type 1a.
Detailed description
The goal of this observational study is to determine if home lactate meters (both capillary and serum sample) are accurate, within 20% of lab serum lactate reading 95% of the time, in a population of patients with glycogen storage disease type 1a and to determine if the Accu Chek Guide glucometer (capillary sample) is accurate, within 20% of lab serum glucose reading 95% of the time, in a population of patients with glycogen storage disease type 1a.
Interventions
DEVICEblood glucose meter; blood lactate meter
Blood lactate level measured by finger-stick with over the counter meter. Blood glucose level measured by finger-stick.
Sponsors
Connecticut Children's Medical Center
Global Center for Glycogen Storage Disease held at the Jewish Community Foundation
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Years to 60 Years
Healthy volunteers
No
Inclusion criteria
* Patients with diagnosed/confirmed (by liver biopsy or genetic testing) Glycogen Storage Disease Type Ia (ICD 10 code: E74.01). * Connecticut Children's Emergency Department visit and/or admission to Connecticut Children's during time study is active * For pediatric participants: Ability of child's parent/legal guardian to understand and the willingness to sign a written informed consent document * For adults: Ability to understand and the willingness to sign a written informed consent
Exclusion criteria
* Patients with Glycogen storage disease unspecified 74.00, or Ib * Patients not meeting inclusion criteria
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Home lactate meter accuracy in GSDIa compared with lab lactate | Every 1-3 hours for a maximum 33 hours | Lactate level via point of care finger-stick and lab draw |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Glucometer accuracy in GSDIa compared with lab lactate | Every 1-3 hours for a maximum 33 hours | Glucose level via finger-stick and lab draw |
Countries
United States
Contacts
CONTACTMalaya Mount, MS, RD
CONTACTRebecca Riba-Wolman, MD
Outcome results
None listed