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 RegistryWe are collecting medical data from people to generate more solid evidence and gain greater insight into the development of the 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.
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:
- 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)
- 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.
- Dr. Clara van Karnebeek, BC Children’s Hospital, University of British Columbia, Vancouver, Canada (Lead Canada)
- Mr. Sravan Jaggumantri, BC Children’s Hospital, University of British Columbia, Vancouver, Canada (Global Project Coordinator)
- Dr. Levinus Bok, Máxima Medical Center, Veldhoven, The Netherlands (Lead Europe)
- Dr. Emma Foottit, UCL Institute of Child Health, London, United Kingdom (Lead UK)
- Dr. Sidney M. Gospe, Seattle Children's Hospital, Seattle, USA (Lead U.S.A)
- Dr. Curtis Coughlin III, Children's Hospital Colorado, University of Colorado, Denver, USA (Lead U.S.A)
Contact us: ObscureMyEmail
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.