Study the dose and effectiveness of dietary sugar supplementation in congenital muscular dystrophy

Phase 2

Completed

• Conditions: Dystroglycanopathy; Congenital Muscular Dystrophy; 10028302

• Registration Number: NL-OMON43130
• Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 28 February 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 20

Inclusion Criteria

- Confirmed Congenital muscular dystrophy with mutations in ISPD, FKRP, or FKTN
- Dystroglycan dysfunction in muscle
- Normoglycemic before start of supplementation
- Isolated muscle dystrophy, no central nervous system symptoms
- Age >18 years

Exclusion Criteria

Persons with contra-indications for a muscle biopsy or who are unwilling to undergo a biopsy, are excluded for that one procedure, but can still be included in the study. Patients with a known condition of severe hypoglycaemia in the fed-state will not be included in this study.

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Primary study parameters include effectiveness of sugar supplementation on<br /><br>improved muscle function as investigated by standardized questionnaires and<br /><br>muscle function tests and a muscle biopsy.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Secondary study parameter includes if sugar supplementation is well tolerated<br /><br>in this patient group.</p><br>