MODY8 syndrome Nutritional, Metabolic, Endocrine MODY8 syndrome
Conditions
Interventions
All participants initially received one Creon enterocapsule (Solvay Pharmaceuticals, Germany) containing 10,000 units lipase, 18,000 units amylase, 600 units protease three times daily, orally at meal
Sponsors
University of Bergen (Norway)
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Participants should: 1. Be a carrier of a single-nucleotide deletion mutation in the CEL VNTR 2. Have diabetes by the World Health Organization criteria 3. Have exocrine dysfunction defined by fecal elastase <200 micrograms/ml in two consecutive tests 4. Patients of both sexes and all ages should be included
Exclusion criteria
Exclusion criteria: 1. Ongoing treatment with pancreatic enzyme supplements 2. Inability to attend clinical examinations and other necessary investigations for geographical reasons 3. Side effects of medication (strong stomach ache)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Fecal elastase-1, assessed at 0, 6, 12 and 30 months 2. Fecal fat excretion, assessed at 0, 12 and 30 months 3. HbA1c (blood test), assessed at 0, 6, 12 and 30 months 4. Vitamins A, D and E (blood test), assessed at 0, 6, 12 and 30 months 5. Creatinine (blood test), assessed at 0, 6, 12 and 30 months 6. Total calcium (blood test), assessed at 0, 6, 12 and 30 months 7. Total High Density Lipoprotein (HDL) and Low Density Lipoprotein (LDL) cholesterols (blood test), assessed at 0, 6, 12 and 30 months 8. Triglycerides (blood test), assessed at 0, 6, 12 and 30 months 9. C-peptide (blood test), assessed at 0, 6, 12 and 30 months 10. Bone mass density (age-matched Z-scores), assessed at 0, 12 and 30 months 11. Visual evoked potential, assessed at 0 and 18 months 12. Sensory evoked potential, assessed at 0 and 18 months 13. Nerve conduction velocity, assessed at 0 and 18 months | — |
Secondary
| Measure | Time frame |
|---|---|
| No secondary outcome measures | — |
Countries
Norway
Outcome results
None listed