This is a single arm study where forty patients with a genetically or biochemically proven diagnosis of mitochondrial disease will be recruited from the mitochondrial CRESTA clinic and / or Medical Research Council Mitochondrial Disease Patient Cohort Study in Newcastle. All forty patients will be assessed prior to and following a 12 week low residue diet study intervention.

Mitochondrial Diseases

All patients will be provided with a LRD plan (< 10g fibre per day) for 12 weeks between visits 2 and 3. They will also be supplemented with multivitamin and mineral tablet or liquid (Forceval) to meet nutrient requirements (prescribed as standard care). The dietitian will provide written and oral information about the LRD and weekly telephone calls to assess patient's progress on the diet.

Low Residue Diet Intervention

Grainne Gorman

Low Residue Diet Study in Mitochondrial Disease

Phase II Feasibility Study of the Efficacy and Acceptability of a Low Residue Diet in Adult Patients With Mitochondrial Disease

Tolerability of the LRD will be assessed using food diaries

Assess stool consistency according to the Bristol Stool Form scale. Patients will select from the following to describe their stool consistency:
Type 1: Separate hard lumps, like nuts Type 2: Sausage-like but lumpy Type 3: Like a sausage but with cracks in the surface Type 4: Like a sausage or snake, smooth and soft Type 5: Soft blobs with clear-cut edges Type 6: Fluffy pieces with ragged edges, a mushy stool Type 7: Watery, no solid pieces

To determine the impact of a LRD on GI dysmotility symptoms using Assessment of Constipation-Symptom (PAC-SYM) questionnaire.

To determine the effect of LRD on patients Disease burden as assessed by the Newcastle Mitochondrial Disease Adult Scale (NMDAS) disease burden and quality of life. This is a questionnaire developed and validated by Wellcome Centre for Mitochondrial Research, Newcastle upon Tyne. This is a scored questionnaire that encompasses questions on patient's disease burden encompassing:
Current Function: Vision with usual glasses or contact lenses; Migraine Headaches; Seizures; Stroke like episodes; Encephalopathic Episodes; Gastro-intestinal symptoms; Diabetes mellitus; Respiratory muscle weakness and Cardiovascular system.
Current Clinical Assessment: Visual acuity; Ptosis; Chronic Progressive External Ophthalmoplegia; Dysphonia/Dysarthria; Myopathy; Cerebellar ataxia; Neuropathy; Pyramidal Involvement; Extrapyramidal and Cogitation.
These are all included under the NMDAS questionnaire and are used by clinical care teams to help determine patient's current disease burden.

Assess effect of a LRD on gut metagenomics

A comparison of the gut microbiome composition and diversity assessed by sequencing, between healthy controls and mitochondrial patients prior to the LRD intervention.

To assess the impact of a LRD on food intake (Food Frequency Questionnaire (FFQ) will be completed for 72 hours (1 day over the weekend and 2 days during the week).

Colonic transit time (CTT) as assessed by plain abdominal X-ray following ingestion of oral colonic marker ingestion.

The Biochemistry department in the Royal Victoria Infirmary in Newcastle upon Tyne will be provided with whole blood. Using this they will measures liver enzymes (alanine transaminase, aspartate aminotransferase, gamma-glutamyl transpeptide), alkaline phosphatase, albumin, bilirubin, lipid profile and C-Peptide tests.

To determine the impact of a LRD on patient GI symptoms using the Gastrointestinal Quality‐of‐Life Index. This includes defecation characteristics including laxative use and reported abdominal symptoms categorized as pain or cramps and bloating or flatulence according to five classifications (1, none; 2, mild; 3, moderate; 4, severe; or 5, very severe).

The Haematology department in the Royal Victoria Infirmary in Newcastle upon Tyne will be provided with whole blood. Using this they will provide a Full blood count, Haematocrit screen, Ferritin, Vitamin B12, HbA1c and Folate.

Patients will be anonymised, and only raw outcome data will be shared in conjunction with collaborators of the Wellcome Centre for Mitochondrial Research .

Newcastle University

Newcastle-upon-Tyne Hospitals NHS Trust

Forty patients with a genetically or biochemically proven diagnosis of mitochondrial disease will be recruited from the mitochondrial Clinics for Research and Service in Themed Assessments (CRESTA) clinic and / or Medical Research Council Mitochondrial Disease Patient Cohort Study in Newcastle

intestinal pseudo-obstruction/carbohydrate

Low Residue Diet Study in Mitochondrial Disease

Najkompletnija baza ljekovitog bilja potpomognuta naukom