ATQ (ALDH7A1) deficiency
Conditions
Interventions
15 participants, aged one (1) year and above, will have a 3-day baseline period
on their current dietary regimen and then for the next 53 days will add PDE MAX
to their diet under the direction of a
Sponsors
Vitaflo International Ltd
Eligibility
Age
No minimum to 99 Years
Inclusion criteria
Inclusion criteria: i) Diagnosis of Pyridoxine Dependent Epilepsy (PDE), biochemically and/or genetically confirmed. ii) 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. iii) Currently following a lysine-restricted diet for a minimum of four (4) weeks prior to screening. iv) Willing to take the study product and follow advice given by the dietitian. v) Willingly given, written, informed consent from patient or parent/guardian. vi) Willingly given, written assent (if appropriate).
Exclusion criteria
Exclusion criteria: i) Inability to comply with the study protocol, in the opinion of the investigator. ii) 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. iii) 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. iv) Allergy to any ingredient present in the study product. v) 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. vi) 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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To evaluate the product acceptability, tolerance and adherence during an 8-week intake of PDE MAX in patients with Pyridoxine Dependent Epilepsy. | — |
Secondary
| Measure | Time frame |
|---|---|
| To observe the changes from baseline, after an 8-week intake of PDE MAX, in PDE biomarkers: • Pipecolic acid in plasma • 6-oxo-pipecolic acid in bloodspot, plasma and urine • P6C in plasma and bloodspot • aAASA in plasma and urine • Amino acid profile in plasma • Whole blood serotonin • Pyridoxal phosphate in plasma • Vitamers in plasma • Organic acids in urine • 2OPP in bloodspot, plasma and urine The outcome of this assessment will be used to support regulatory submissions by Vitaflo (International) Ltd. for the purpose of registration in any geography for sale and/or reimbursement of the product as appropriate. | — |
Countries
Netherlands
Outcome results
None listed