Clinical trial NCT04672226: Evaluation of PDE MAX
Official 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
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Pyridoxine Dependant Epilepsy
Keywords: PDE
Lead sponsor: Vitaflo International, Ltd
Sponsor class: INDUSTRY
Collaborators: name: Radboud University Medical Center
name: Great Ormond Street Hospital for Children NHS Foundation Trust
First posted: 2020-12-17
Enrollment: 11
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief summary: PDE MAX is a single arm prospective, feasibility study in up to 15 participants aged one (1) year and over of PDE MAX for the dietary management of Pyridoxine Dependent Epilepsy.

Detailed description: PDE Max is a newly-developed product designed specifically to meet the nutritional requirements of patients following a lysine-restricted diet for PDE.

This is 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.

Participants will be given an eight-week supply of PDE MAX and they will be asked to complete a daily diary and short questionnaire to record information on: adherence, gastrointestinal tolerance, palatability and how the product is used.

Blood and urine samples will be taken at the beginning and end of the study to measure several biochemical parameters.

Physical and neurological assessments will be carried out by the local Metabolic Consultant at the beginning and end of the study.

Routine monitoring of lysine levels will continue.

Eligibility criteria: Inclusion Criteria:

* Diagnosis of Pyridoxine Dependent Epilepsy (PDE), biochemically and/or genetically confirmed.
* Males or females aged one (1) year and above. Any participant aged 16 years and over at screening must have the capacity to consent for themselves.
* Currently following a lysine-restricted diet for a minimum of four (4) weeks prior to screening.
* Willing to take the study product and follow advice given by the dietitian.
* Willingly given, written, informed consent from patient or parent/guardian.
* Willingly given, written assent (if appropriate).

Exclusion Criteria:

* Inability to comply with the study protocol, in the opinion of the investigator.
* Use of additional macro/micronutrient supplements during the study period, unless clinically indicated and prescribed by the investigator, such as but not limited to arginine and pyridoxine. In which case, supplementation must have started four (4) weeks prior to screening with no anticipated changes to intakes during the study duration.
* Participants who are pregnant / breastfeeding at the start of the study or planning to become pregnant during the study period. Participants of child-bearing potential will be required to undergo pregnancy test prior to enrolment.

N.B.: Participants who become pregnant unexpectedly during this study may, in consultation with their doctor, continue on the study's dietary product if they wish but will not have any investigations that would not normally be carried out during pregnancy.

* Allergy to any ingredient present in the study product.
* Other concurrent medical or psychiatric conditions, which, in the opinion of the Investigator, would place the subject at increased risk, preclude obtaining voluntary consent/assent or compliance with required study procedures, or would confound the objectives of the study.
* Is participating in any other interventional study and has received any other investigational drug, product or device within 30 days prior to screening or are taking part in a non-medication study which, in the opinion of the investigator, would interfere with study compliance or outcome assessments.

Primary outcomes:
measure: Product acceptability rated on a Likert scale by the patient after eight week intake
timeFrame: 8 weeks
measure: Questionnaire of self-reported changes in gastrointestinal tolerance during eight week intake
timeFrame: 8 weeks
measure: Questionnaire of self-reported adherence to the prescribed amount of study product
timeFrame: 8 weeks
Secondary outcomes:
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of pipecolic acid in plasma.
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of 6-oxo-pipecolic acid in bloodspots
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of 6-oxo-pipecolic acid in plasma
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of 6-oxo-pipecolic acid in urine
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of P6C in bloodspots
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of P6C in plasma
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of αAASA in plasma
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of αAASA in urine
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of the amino acid profile in plasma
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of whole blood serotonin
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of pyridoxal phosphate in plasma
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of vitamers in plasma
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of organic acids in urine
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of 2OPP in bloodspots
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of 2OPP in plasma
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
measure: Change in concentration from baseline, after an 8-week intake of PDE MAX, of 2OPP in urine
timeFrame: Day 0 (visit 1) to day 56 (visit 2)
Other outcomes:
Locations:
city: Nijmegen
country: Netherlands
facility: Radboud UMC
city: London
country: United Kingdom
facility: Great Ormond Street Hospital for Children
Study officials:
affiliation: Amsterdam University Medical Centers
name: Clara van Karnebeek
role: PRINCIPAL_INVESTIGATOR
References: