PURA Syndrome EEG Research Study

In 2014, the first PURA patients were described in medical literature. Symptoms including severe neurodevelopmental delay, hypotonia, respiratory problems, feeding difficulties, hypothermia and seizures were reported in patients with PURA mutations. Epilepsy in particular is a concern in the development and treatment of patients, with seizure events reported in over 50% of diagnosed individuals. 

 

An EEG (electroencephalogram) is a test used to find problems related to electrical activity of the brain. An EEG tracks and records brain wave patterns. Small metal discs with thin wires (electrodes) are placed on top of the scalp, and they send signals to a computer which records the results. Normal electrical activity in the brain makes a recognisable pattern (waveform). Through an EEG, researchers can look for abnormal patterns that indicate seizures from other non-epileptic movements. 

The PURA Syndrome Foundation commenced a joint research collaboration with Danish Epilepsy Research Hospital (Denmark) and Maastricht University Medical Center and Academic Centre for Epileptology (The Netherlands) in 2018 to better understand epilepsy and general neurological issues occurring with PURA patients. In 2018, clinical data for a research paper on neurology genotype/ phenotype correlations for PURA syndrome was collected. This research paper is currently under draft.

 

For this next round of neurology research in 2019, the above research teams are collecting and studying EEG “raw data” (digital recordings of EEG waveforms) that have been previously recorded for PURA syndrome patients.  Researchers hope to analyse existing EEG data from PURA patients and learn how PURA seizures start, spread, and stop. They aim to identify what are standard EEG patterns for PURA syndrome, what happens when seizures aren’t occurring, and how and why the pattern changes they see when seizures are present. 

 

This means researchers will need to collect EEG data from both PURA patients with seizures, and PURA patients without seizures.
 

  • As such, all PURA patients who have had an EEG can be involved in this research, with or without epilepsy. 

  • Patients who have already been published in another research paper can also be included.

  • To be included in this research, PURA families will need to have their neurologist send copies of the digital EEG files recorded during PURA patient testing, to the EEG research team. 


Download - Letter for families to provide to neurologist (PDF - English)

PURA Syndrome Global
EEG Research Study

Supporting Institutions /
Groups:

  • Danish Epilepsy Research Hospital (Filadelfia), Denmark 

  • Maastricht University Medical Centre and Academic Centre for Epileptology (The Netherlands)

  • Temple University Philadelphia, USA

  • PURA Syndrome Foundation

  • PURA syndrome families

 

The PURA Syndrome Foundation is supporting this research by providing access to the study for PURA syndrome families via this website and funding open access for research clinical papers resulting from the study.
 

Our mission is to serve, educate and fund research for families coping with the effects of PURA syndrome.

Do families have to take part?

Participation is entirely optional. As the parent or guardian of an affected child, we are asking you to make a decision on their behalf.

If you wish to be included in the study, please consider completing the form below.

This EEG research study involves:
 

  • Neurology studies of patients with PURA syndrome, known as clinical research.

  • Collection of existing EEG (electroencephalography) reports and data from PURA patients – including patients with and without epilepsy.

  • Comparison and analyses of existing EEG “raw data” (digital recordings of EEG waveforms).

  • Studying how PURA seizures start, spread, and stop in both human and animal models.

  • Studies of brain development and epilepsy for PURA syndrome.

While general clinical research has led to a greater understanding about the characteristics of PURA syndrome, there are still a lot of unanswered questions about how and why seizures and epilepsy develop, how they can best be treated and prevented. We hope that in gaining a clearer understanding of the epilepsy issues being faced by PURA patients, we can develop better care and treatment options long term for PURA syndrome children and adults. 

If you decide to take part in this study, patient data collected by the Danish Epilepsy Research Hospital (Filadelfia), Denmark, and Maastricht University Medical Centre and Academic Centre for Epileptology (The Netherlands), will be exchanged between them in an anonymised form as part of the study.

Outcomes of this research may be shared in reports, publications and conferences.

Register your inclusion in the EEG research study
(online form)

Upon clicking the submit button below, you acknowledge you have read the contents of the Data Protection & Privacy Policy of the PURA Syndrome Foundation located at www.purasyndrome.org/foundation or as a PDF via this link  and that you agree to your personal information being stored and used by the PURA Syndrome Foundation, in accordance with its data policies. Clinician details provided will be used to make contact for this research study only.

The PURA Syndrome Foundation is a registered 501(c)(3) charity organization. Information on this website is not a substitute for personal medical advice. Families should consult a medically qualified physician in all matters relating to genetic diagnosis , management, and health . Information about PURA and genetics in general is a very fast moving area and while the information on this website is regarded as the best at the time of publication , some facts may change later .