Diazoxide in the Treatment of Type 1 Glycogenosis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Glycogen Storage Disease Type I. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
In children with a glycogen storage disorder, one of the enzymes needed to convert glucose into glycogen, or to break down glycogen into glucose, is missing. There are many different types of glycogen storage disorders (also known as glycogenoses). Type 1 glycogenosis results in low blood sugar (hypoglycemia), increased lactate (a glucose metabolite produced by body tissues when oxygen supply is insufficient) and a bulky abdomen (glycogen accumulation induces liver enlargement). Low blood sugar leads to sweating, confusion, convulsions and coma. Type 1 glycogenosis manifests itself early in life. In children, glycogen storage disorders can have other consequences, such as stunted growth linked to chronic acidosis, tend to increase uric acid levels (a breakdown product) which accumulate in the joints, leading to gout, and in the kidneys, leading to kidney stones. The mainstay of treatment is frequent oral feeding with raw cornstarch or a lactose-free preparation with maltodextrin to maintain normal blood sugar levels. Nocturnal enteral feeding via gastrostomy is necessary during the first years of life. These children tend to have greater insulin reactions (= hormone that brings sugar into the cells), resulting in a more rapid fall in blood sugar levels. Diazoxide is a drug that inhibits pancreatic insulin secretion and prevents blood sugar levels from falling. It has been used successfully in some patients. The main objective of this project is to describe the metabolic balance in children with type 1 glycogenosis treated with Diazoxide compared with children who did not receive Diazoxide treatment.
Primary outcome measures
- evolution of glycemia and lactic acid [Time frame: From diagnosis to 10 years of follow-up (based on available data)]
Eligibility criteria
Inclusion criteria
- Patients followed at the CHRU de Nancy or CHU de Besançon for type I glycogen storage disease
- Person having received full information on the organization of the research and not having objected to the use of this data
- Parental consent for minors
Exclusion criteria
- Lack of data in medical records to meet the study's main objective
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Other
Study locations
Center list to be confirmed — check the primary protocol.
Publications
- Gumus E, Ozen H. Glycogen storage diseases: An update. World J Gastroenterol. 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932. PMID 37476587
Identifiers
NCT: NCT07739394 · 2025PI065