Diazoxide in the Treatment of Type 1 Glycogenosis

NCT07739394 | Not Yet Recruiting

• 1 other identifier: 2025PI065
• Study Type: observational
• Target: 15
• Locations: 0 countries
• Sites: N/A

Brief Summary

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.

Conditions

Glycogen Storage Disease Type I

Outcome Measures

Primary Outcomes (1)

• evolution of glycemia and lactic acid

  From diagnosis to 10 years of follow-up (based on available data)

Study Arms (2)

treatment with diazoxide

No treatment with diazoxide

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients with type I glycogen storage disease

You may qualify if:

• 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

You may not qualify if:

• Lack of data in medical records to meet the study's main objective

Sponsors & Collaborators

• Central Hospital, Nancy, France: lead

Related Publications (1)

• 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 RESULT

MeSH Terms

Conditions

Glycogen Storage Disease Type I

Condition Hierarchy (Ancestors)

Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

François Feillet, Professor

CONTACT

0383154796; f.feillet@chru-nancy.Fr

Eva Feigerlova, Docteur

CONTACT

+330383154796; e.feigerlova@chru-nancy.Fr

Study Design

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

Study Record Dates

• First Submitted: July 28, 2026
• First Posted: July 31, 2026
• Study Start (Estimated): August 30, 2026
• Primary Completion (Estimated): September 30, 2027
• Study Completion (Estimated): October 15, 2027
• Last Updated: July 31, 2026

Record last verified: 2026-07