Pilot study to identify genetic factors associated with acute porphyia

• Research type

  Research Study

• Full title

  A pilot study to identify genetic factors that may be associated with increased risk of acute neurovisceral attacks in patients with Acute Intermittent Porphyria.

• IRAS ID

  137222

• Contact name

  Sharon Whatley

• Contact email

  Sharon.Whatley@wales.nhs.uk

• Sponsor organisation

  Cardiff and Vale University Local Health Board

• Research summary

  Acute intermittent porphyria (AIP) is one of three inherited acute porphyrias that can cause sudden onset acute illness, usually in adulthood. These acute attacks comprise severe abdominal pain, nausea and vomiting, muscle weakness, high blood pressure, convulsions and disturbed behaviour. They can be life threatening as, if undiagnosed, they frequently progress to complete paralysis. Triggers of the attacks include certain prescribed drugs, hormonal changes, excess alcohol, severe stress and infections. However more than 90% of patients who inherit AIP, which is a dominant disorder, do not suffer any symptoms during their lifetime. At present we are unable to predict which patients are most at risk of the acute attacks, and all patients who inherit AIP are therefore advised to avoid possible triggers, including prescribed medication.
  The Cardiff Porphyria Service is a clinical and diagnostic centre with a long standing interest in acute porphyria. As such we have tested many patients and family members for AIP. The study we propose, aims to use the remainder of the samples we have received to investigate whether there are additional genetic factors that predispose patients to acute attacks. We have identified 45 patients from 13 families. Patients will be categorised as “active AIP“ or “control“. The control group will be family members over the age of 45 who have AIP but have never had symptoms. The samples will be anonymised, DNA will be extracted and we will then look at the many small changes that occur even in a normal person’s DNA. These are called single nucleotide polymorphisms or SNPs and there are roughly 10 million in the human genome. These SNPs can act as markers, helping us locate genes that are associated with disease.

• REC name

  South Central - Berkshire B Research Ethics Committee

• REC reference

  13/SC/0527

• Date of REC Opinion

  30 Sep 2013

• REC opinion

  Favourable Opinion