Early onset or familial intestinal pseudo obstruction

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Inclusion criteria:

  • Chronic visceral dilatation including part or all of the small intestine (chronic intestinal pseudo-obstruction) AND one of
  • Diagnosis within first year of life (majority will have symptoms from the neonatal period)
  • Diagnosis at any age but with at least one first or second degree relative with a diagnosis of either IPO or another severe digestive motility disorder (enteric dysmotility; oesophageal achalasia, megacolon, megarectum).

Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.

In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Exclusion criteria:

Proven mitochondrial myopathy (MNGIE) [by MRI / muscle biopsy in suspected cases] Proven early onset secondary cause e.g. muscular dystrophy or cystic fibrosis [with relevant testing if clinical suspicion]

Prior genetic testing guidance:

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes:

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: No genes specified

Closing statement:

These requirements will be kept under continual review during the main programme and may be subject to change.

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