PDE Registry

The international PDE registry for patients with pyridoxine-dependent epilepsy was set up in 2014 and includes over 130 patients in 2021.
It allows us to: collect important information on symptoms, genetics, outcomes / understand the effect of current therapies / develop new treatment strategies / better unravel PDE disease mechanisms / make meaningful connections in the PDE community.

Information for professionals

The purpose of this registry is to collect and unite information on phenotype, genotype, natural history and outcomes of this rare disease subgroup as well as current treatment modalities (B6 only, adjunct lysine-restriction diet, other dietary interventions) in order to ascertain which treatment(s) are the most effective.

How can I be involved?
- You can be involved in the registry as a regional investigator. You will need to obtain ethics approval and institutional approval (if required) to become a regional participating site in the International PDE Registry.
- Central Coordinating Site Staff (BC Children’s Hospital) will help you in preparing the documents for the submission and guide you if you require any clarifications.
- All study documents can be downloaded via this page.
Or
- You can associate yourself with a regional site in your area that already exits and enroll your patients via their site. You will be added to their ethics application as a co investigator and your site as a satellite site.
What should I do after I become a participating site for the registry?
- You will need to obtain informed consent from each patient
- Once this is obtained the central site will provide a de-identified number and information to logon to PDE redcap
- You will only be able to access your own patients’ data
- Data entry should be done by you / your group; the Central Coordinating Site will provide training and support for this.
How is data entered into the registry?

Data collection for the registry is done online using the web based RedCap database. Data entry should begin only after obtaining informed consent from each patient. User credential and login information will be provided to you. Only de-identified information will be entered. Data from each participating site is separated, so you will only be able to view data on your patients, and no other site will be able to see your patients' data.
How long does it take to and how frequently do I have to enter the data?

The database is structured based on recommendations for monitoring from the PDE Consortium. Data collection is prospective and longitudinal. You will enter data each time the study participant visits you. It takes about 30-45 min per patient depending the type of visit and the number of assessments performed.
Benefits of participating in the registry?
- You will join the international PDE consortium
- You will be part of a global network of healthcare professionals treating PDE. And contribute to advancing research and care for this metabolic epilepsy
- Receive regular updates on current standards for treatment, monitoring and managing PDE patients
- Access to the dataset to perform your own independent research upon approval from steering committee

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Information for patients

PDE is a rare form of epilepsy characterized by seizures that begin in infancy or, in some cases, before birth. Researchers recently discovered that PDE is caused by a defect in a gene (ATQ) that affects the body’s ability to break down a substance called lysine, an important protein building block. The chemicals that accumulate in the body because of this defect are thought to be toxic to brain cells and therefore responsible for the developmental delays experienced by 75-80% of PDE patients.

International PDE Registry

We are collecting medical data from people to generate more solid evidence and gain greater insight into the development of this disease and effect of treatments. This information will be put into a database (International PDE Registry), which we can then use to better understand this rare disease, improve patient care and achieve the best health outcomes for the individuals with this condition.
Today, there are > 130 patients enrolled in the registry, and counting. Participation in the registry will continue to be possible as bigger patient numbers provide more solid evidence (“the bigger patient number, the better”).
Who can participate?

Patients & Families with confirmed diagnosis of pyridoxine-dependent epilepsy due to Antiquitin deficiency (ALDH7A1 mutations).
What kind of medical data will be collected?
With your permission, your doctor will collect information about your symptoms due to PDE, including specifics about your seizures, effects on neurodevelopment, treatments and its / their effect. We also want to collect clinical data about previous clinical and laboratory test results or findings in blood, urine and spinal fluid which may be associated with these conditions.

The following information will be collected throughout time:
- Diagnosis
- Month and Year of birth for age determination
- Symptoms of the disease (seizures, developmental,, etc)
- Clinical and laboratory data and test results (for example: EEG, MRI, behavior tests, gene tests, lab tests,blood/urine test results)
- Treatment
- Outcomes and monitoring
How will my information be protected?

Protecting the security and privacy of your data is extremely important to us. Your name and other confidential data are not stored in the database. We are implementing a system in which a computer program assigns a unique code to each new patient being entered into the database. All information in the database is de-identified. Aside from your physician, your name will never be known to anyone associated with PDE Registry database and no record of your name will ever be entered to any element of the online dataset.
How can I join the registry?

We encourage you to Make Your Experiences Matter by joining the registry. Your participating in the PDE Registry is voluntary. Ask your physician to join the PDE consortium and enroll you into the registry. You can withdraw from the registry at any time.
What is the benefit of joining the registry?

There is no direct benefit to your participation in this research study. Sharing of your de-identified data and information will help to better understand the individual variability of your condition. This will allow us to better inform affected individuals about their potential outcome for the future. We also think that it is important to understand the nature of the disease to find better treatments. In future we plan to send regular newsletters to all participants on current standards, trends observed and any new information about PDE.
Links for patients