Neurology and enzyme therapy in MODY8
| ISRCTN | ISRCTN35040926 |
|---|---|
| DOI | https://doi.org/10.1186/ISRCTN35040926 |
| Secondary identifying numbers | N/A |
- Submission date
- 21/11/2007
- Registration date
- 04/12/2007
- Last edited
- 10/06/2021
- Recruitment status
- No longer recruiting
- Overall study status
- Completed
- Condition category
- Nutritional, Metabolic, Endocrine
Prospectively registered
Protocol
Statistical analysis plan
Results
Individual participant data
Plain English summary of protocol
Not provided at time of registration
Contact information
Prof Pal Njolstad
Scientific
Scientific
Section for Paediatrics
Department of Clinical Medicine
Haukeland University Hospital
Bergen
5021
Norway
| Phone | +47 55 97 51 53 |
|---|---|
| pal.njolstad@pedi.uib.no |
Study information
| Study design | Open, non-randomized, single-center, interventional study. |
|---|---|
| Primary study design | Interventional |
| Secondary study design | Non randomised controlled trial |
| Study setting(s) | Not specified |
| Study type | Treatment |
| Scientific title | Neurology and enzyme therapy in MODY8 |
| Study objectives | The MODY8 syndrome is a monogenically inherited syndrome of diabetes and pancreatic exocrine dysfunction due to single-base deletion mutations in the Carboxyl-Ester Lipase (CEL) gene Variable Number of Tandem Repeats (VNTR), registered in OMIM as MODY8 or DPED. Hypotheses: That pancreatic enzyme substitution therapy will: 1. Ameliorate exocrine function as reflected by fecal fat excretion and fat-soluble vitamin status 2. Improve glycemic control as measured by HbA1c 3. Improve neuropathology in patients with the MODY8 syndrome |
| Ethics approval(s) | The Regional Committee for Research Ethics of Western Norway (REK Vest), approved on 11 November 2004, (ref: REK Vest 209.04) |
| Health condition(s) or problem(s) studied | MODY8 syndrome |
| Intervention | 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 meals. If the clinical effect was unsatisfactory based on patient symptoms, the dose was first increased to 1-2 capsules 3-4 times daily, and if the clinical effect was still unsatisfactory, the medication was changed to Creon Forte, taken orally with meals, 1-2 capsules per meal. |
| Intervention type | Drug |
| Pharmaceutical study type(s) | |
| Phase | Not Specified |
| Drug / device / biological / vaccine name(s) | Creon enterocapsule and Creon Forte,Creon enterocapsule and Creon Forte |
| Primary outcome measure | 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 outcome measures | No secondary outcome measures |
| Overall study start date | 01/09/2004 |
| Completion date | 30/06/2007 |
Eligibility
| Participant type(s) | Patient |
|---|---|
| Age group | Not Specified |
| Sex | Both |
| Target number of participants | 16 |
| Total final enrolment | 9 |
| Key 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 |
| Key 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) |
| Date of first enrolment | 01/09/2004 |
| Date of final enrolment | 30/06/2007 |
Locations
Countries of recruitment
- Norway
Study participating centre
Section for Paediatrics
Bergen
5021
Norway
5021
Norway
Sponsor information
University of Bergen (Norway)
University/education
University/education
Faculty of Medicine
Post Box 7804
Bergen
5020
Norway
| Phone | +47 55 58 20 86 |
|---|---|
| post@medfa.uib.no | |
| Website | http://www.uib.no/info/english/ |
"ROR" |
https://ror.org/03zga2b32 |
Funders
Funder type
University/education
Haukeland University Hospital, Innovest, University of Bergen (Norway)
No information available
The Norwegian Research Council (FUGE Program)
No information available
Results and Publications
| Intention to publish date | |
|---|---|
| Individual participant data (IPD) Intention to share | No |
| IPD sharing plan summary | Not provided at time of registration |
| Publication and dissemination plan | Not provided at time of registration |
| IPD sharing plan |
Study outputs
| Output type | Details | Date created | Date added | Peer reviewed? | Patient-facing? |
|---|---|---|---|---|---|
| Results article | 01/09/2008 | 10/06/2021 | Yes | No |
