Dystroglycanopathy
Conditions
Interventions
Intervention involves daily dietary intake of the monosaccharide ribose.
Congenital muscular dystrophies
dietary sugars
Dystroglycanopathies
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
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
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Primary study parameters include effectiveness of sugar supplementation on improved muscle function as investigated by standardized questionnaires and muscle function tests and a muscle biopsy. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary study parameter includes if sugar supplementation is well tolerated in this patient group. | — |
Countries
The Netherlands
Outcome results
None listed