Evaluation of PDE MAX (PDE MAX)

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

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.

Study Overview

• Status: Completed
• Conditions: Pyridoxine Dependant Epilepsy
• Intervention / Treatment: Dietary supplement: PDE MAX

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.

• Study Type: Interventional
• Enrollment (Actual): 11
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Netherlands
  • Nijmegen, Netherlands, 6500
    • Radboud UMC
• United Kingdom
  • London, United Kingdom
    • Great Ormond Street Hospital for Children

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

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.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: PDE MAX; PDE MAX will be prescribed by the study dietitian based on the patient's individual requirement.	Dietary supplement: PDE MAX; PDE MAX will be prescribed by the study dietitian based on the patient's individual requirement.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Product acceptability rated on a Likert scale by the patient after eight week intake	Assessment of participant's acceptability following an eight week intake of the study product	8 weeks
Questionnaire of self-reported changes in gastrointestinal tolerance during eight week intake	Assessment of participant's gastrointestinal tolerance during the eight week intake of the study product	8 weeks
Questionnaire of self-reported adherence to the prescribed amount of study product	Assessment of participant's adherence to prescribed amount during the eight week intake of the study product	8 weeks

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in concentration from baseline, after an 8-week intake of PDE MAX, of pipecolic acid in plasma.	To observe any change from baseline, after an 8-week intake of PDE MAX, in pipecolic acid in plasma.	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of 6-oxo-pipecolic acid in bloodspots	To observe the changes from baseline, after an 8-week intake of PDE MAX, in 6-oxo-pipecolic acid in bloodspots	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of 6-oxo-pipecolic acid in plasma	To observe any changes from baseline, after an 8-week intake of PDE MAX, of 6-oxo-pipecolic acid in plasma	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of 6-oxo-pipecolic acid in urine	To observe any changes from baseline, after an 8-week intake of PDE MAX, of 6-oxo-pipecolic acid in urine	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of P6C in bloodspots	To observe any changes from baseline, after an 8-week intake of PDE MAX, of P6C in bloodspots	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of P6C in plasma	To observe any changes from baseline, after an 8-week intake of PDE MAX, of P6C in plasma	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of αAASA in plasma	To observe any changes from baseline, after an 8-week intake of PDE MAX, of αAASA in plasma	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of αAASA in urine	To observe any changes from baseline, after an 8-week intake of PDE MAX, of αAASA in urine	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of the amino acid profile in plasma	To observe any changes from baseline, after an 8-week intake of PDE MAX, of the amino acid profile in plasma	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of whole blood serotonin	To observe any changes from baseline, after an 8-week intake of PDE MAX, of whole blood serotonin	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of pyridoxal phosphate in plasma	To observe any changes from baseline, after an 8-week intake of PDE MAX, of pyridoxal phosphate in plasma	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of vitamers in plasma	To observe any changes from baseline, after an 8-week intake of PDE MAX, of vitamers in plasma	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of organic acids in urine	To observe any changes from baseline, after an 8-week intake of PDE MAX, of organic acids in urine	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of 2OPP in bloodspots	To observe the changes from baseline, after an 8-week intake of PDE MAX, of 2OPP in bloodspots	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of 2OPP in plasma	To observe the changes from baseline, after an 8-week intake of PDE MAX, of 2OPP in plasma	Day 0 (visit 1) to day 56 (visit 2)
Change in concentration from baseline, after an 8-week intake of PDE MAX, of 2OPP in urine	To observe the changes from baseline, after an 8-week intake of PDE MAX, of 2OPP in urine	Day 0 (visit 1) to day 56 (visit 2)

Collaborators and Investigators

• Sponsor: Vitaflo International, Ltd
• Collaborators: Radboud University Medical Center; Great Ormond Street Hospital for Children NHS Foundation Trust
• Investigators: Principal Investigator: Clara van Karnebeek, Amsterdam University Medical Centers

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2021
• Primary Completion (Actual): July 20, 2023
• Study Completion (Actual): July 31, 2023

Study Registration Dates

• First Submitted: December 3, 2020
• First Submitted That Met QC Criteria: December 11, 2020
• First Posted (Actual): December 17, 2020

Study Record Updates

• Last Update Posted (Actual): February 16, 2024
• Last Update Submitted That Met QC Criteria: February 15, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Keywords: PDE
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epilepsy
• Other Study ID Numbers: MCT-W-PDEPS-2017-10-11; 254178 (Other Identifier: UK IRAS); 20/NW/0370 (Other Identifier: UK HRA)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No