PDE Max

• Research type

  Research Study

• Full title

  A feasibility study to evaluate PDE Max, a food for special medical purposes (FSMP) for use in the dietary management of Pyridoxine Dependent Epilepsy (PDE) with regards to acceptability, tolerability, adherence and effect on metabolic control.

• IRAS ID

  254178

• Contact name

  Emma Footitt

• Contact email

  Emma.Footitt@GOSH.NHS.UK

• Clinicaltrials.gov Identifier

  NCT04672226

• Duration of Study in the UK

  0 years, 11 months, 31 days

• Research summary

  Pyridoxine dependent epilepsy (PDE) is a rare (~1:350,000), inherited disorder characterised by recurrent and drug resistant seizures. The disorder is pyridoxine (vitamin B6) dependent and patients are treated with high doses of this, although they are not deficient. 75% of patients have intellectual developmental disability and/or delay, despite adequate seizure control from treatment. Best practice is for triple therapy: pyridoxine, arginine supplementation and lysine restriction.

  There is often delayed diagnosis. 6-oxo-pipecolic acid has been identified as a novel biomarker that utilises current newborn screening techniques. Another biomarker has also recently been discovered, 2OPP.

  There is currently no protein substitute designed specifically for PDE. Patients are being offered a ‘best fit’ diet based on another condition, Glutaric Aciduria Type 1 (GA1). The GA1 products are low in lysine but also low in tryptophan, which may cause a deficiency for PDE patients. Due to the restrictive nature of the low protein diet, PDE sufferers are also at an increased risk of micronutrient deficiencies.
  Therefore, vitamins, minerals and trace elements are incorporated into PDE MAX, to adequately replace the micronutrients that would typically be consumed through dietary protein intake.

  The study will recruit up to 15 participants aged one and above. There will be a three-day baseline period where they continue their current diet. From day 4 until 56, participants will incorporate PDE MAX into their diet following the advice of their dietitian/doctor. The study will evaluate product acceptability, tolerance and adherence. This will be via daily diaries completed by the patients at home.

  Blood and urine samples will be taken at baseline and end of study measuring changes in:
  • Pipecolic acid
  • 6-oxo-pipecolic acid
  • P6C
  • αAASA
  • Amino acid profile
  • Whole blood serotonin
  • Pyridoxal phosphate
  • Vitamers
  • Organic acids
  • 2OPP

  Additional clinical measures:
  • Weight and height
  • History: seizures, alertness, behaviour
  • General physical and neurologic examinations

• REC name

  North West - Preston Research Ethics Committee

• REC reference

  20/NW/0370

• Date of REC Opinion

  2 Oct 2020

• REC opinion

  Favourable Opinion