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

Section for Paediatrics
Department of Clinical Medicine
Haukeland University Hospital
Bergen
5021
Norway

Phone +47 55 97 51 53
Email pal.njolstad@pedi.uib.no

Study information

Study designOpen, non-randomized, single-center, interventional study.
Primary study designInterventional
Secondary study designNon randomised controlled trial
Study setting(s)Not specified
Study typeTreatment
Scientific titleNeurology and enzyme therapy in MODY8
Study objectivesThe 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) studiedMODY8 syndrome
InterventionAll 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 typeDrug
Pharmaceutical study type(s)
PhaseNot Specified
Drug / device / biological / vaccine name(s)Creon enterocapsule and Creon Forte,Creon enterocapsule and Creon Forte
Primary outcome measure1. 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 measuresNo secondary outcome measures
Overall study start date01/09/2004
Completion date30/06/2007

Eligibility

Participant type(s)Patient
Age groupNot Specified
SexBoth
Target number of participants16
Total final enrolment9
Key inclusion criteriaParticipants 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 criteria1. 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 enrolment01/09/2004
Date of final enrolment30/06/2007

Locations

Countries of recruitment

  • Norway

Study participating centre

Section for Paediatrics
Bergen
5021
Norway

Sponsor information

University of Bergen (Norway)
University/education

Faculty of Medicine
Post Box 7804
Bergen
5020
Norway

Phone +47 55 58 20 86
Email post@medfa.uib.no
Website http://www.uib.no/info/english/
ROR logo "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 shareNo
IPD sharing plan summaryNot provided at time of registration
Publication and dissemination planNot 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