PDE caused To Antiquitin (ATQ) Deficiency: Altered Lysine Metabolism

Deficiency of lysine degradation can lead to the chemical inactivation of pyridoxine, leading to potentially damaging levels of neurotoxic substances.

Dietary Lysine Restriction Co-Therapy

Pyridoxine Therapy is symptomatic for seizures as it helps overcome the Vitamin B6 deficiency due chemical inactivation by accumulating substances such as P6C. Lysine restriction is causal therapy as it reduces this accumulation and potentially prevents or minimizes neurotoxicity leading to cognitive and developmental deficits.

First patient results are promising...

An observational study in Canada and Germany shows that the lysine-restriction diet is safe and well tolerated. Reductions in neurotoxic metabolites (urine AASA, plasma pipecolic acid) have been seen along with improved seizure control as well as indications of behavioural and neurodevelopmental progress (manuscript in progress).

…But ‘we are not there yet'.

At this stage the evidence is still limited. We need to not generate more solid evidence of effects, foremost long-term. We need to know who will benefit and how, so as to avoid a burdensome therapy such as diet in those who do not require it.

So, how do we ‘get there’?

As is the case in all Rare Disease research, the answer is in the numbers. We need tools and strategies to get more patients and committed health care professionals involved. Implementation of novel trial methodologies for small patient numbers is another key to success. The PDE Registry forms the basis; we need to map out our patients and colleagues interested in improving outcomes for this metabolic epilepsy.
  • What will a PDE Research Framework Accomplish? [+]

    Before this burdensome therapy becomes mainstay treatment, we need to generate higher levels of evidence of improved brain chemistry and seizure control. Similarly we need to convincingly establish the diet’s positive effects on neuro-cognitive outcomes. More studies that reflect what we have seen so far would accomplish this.

  • Only by working together we can collect the required data to achieve our goals [+]

    Interested health care professionals have diverse PDE areas of expertise and within their own sphere of engagement, contacts with patients and families with PDE. Working together, we can increase and improve levels of evidence, understand which patients benefit the most, discern which features are amenable to treatment, and determine the short and long-term effects of therapy. This contact benefits all concerned

  • Our PDE Research Framework utilizes an all-inclusive approach to unite patients, physicians and scientists around the world [+]

    • international collaboration
    • joint research projects and funding applications
    • annual workshops & meetings
    • application of novel trial methodologies and designs
    • patient & family involvement

  • PDE is online [+]

    • this website: www.pdeonline.org
    • website with protocols, methodological toolbox & up-to-date disease information
    • online PDE patient registry (> 40 patients entered already)
    • the registry also serves as a basis for PDE research, for all interested professionals
    • leveraging social media for connecting all interested in the planning stages
    • uniting patients across the globe and providing a platform for participatory research

  • The PDE Research Framework is poised to tackle the challenges and lead the way in rare disease research. [+]

    Rare diseases come with their own sets of problems. Obscurity, lack of health-related commercial value, low patient numbers for the purposes of research and treatment investigation and small pool of interested clinicians and scientist. It is because of this, that we in the PDE Research Framework engage in innovative studies. Our studies involve the use of revised N-of-1 and cohort studies to obtain various evidence levels and meaningful outcome data.

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Illustration of the all-inclusive-approach to PDE research, generating evidence and knowledge
(click to enlarge)
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This initiative is part of a larger project titled the ‘Treatable Intellectual Disability Endeavour in British Columbia’ (TIDE-BC). It is the aim of this project to create a Best Care Practice to enhance diagnosis and treatment of rare diseases such as PDE and the more than 80 other treatable inborn errors of metabolism which cause intellectual disability and/or epilepsy.
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