PURA Syndrome Global Epilepsy Research Project

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 events reported in over 50% of diagnosed individuals.


Epilepsy usually starts with myoclonic jerks (sudden muscle contractions) progressing to other seizure types including generalized tonic-clonic seizures (muscles stiffening, Jerking movements), tonic seizures (muscles stiffening), and epileptic spasms (arms and/or legs go out and back in again repeatedly). In some instances, the seizure disorder progresses to the Lennox-Gastaut syndrome. The seizures are often drug resistant. Non-epileptic movements also can be seen and may include dystonia (involuntary muscle contractions that result in slow repetitive movements or abnormal positioning), dyskinesia (uncontrolled movement), and dysconjugate eye movements (eyes not turning together in same direction).

 

As such, a Global Epilepsy Project for PURA syndrome has been developed. 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. The first round of clinical epilepsy studies commenced in 2018. These studies will form the basis of initial papers to be published in 2019. 

Epilepsy research goals for PURA syndrome.

  1. To understand the pathophysiology of PURA syndrome epilepsy.
    (What is causing the seizures? Is it a structural or chemical issue?)

     

  2. To establish the epilepsy phenotype of PURA syndrome and assess genotype-phenotype correlations.
    (What commonly occurs with the PURA syndrome patients who have epilepsy?)

     

  3. To evaluate possible treatment options for PURA syndrome epilepsy and enable a treatment guide for patients.
    (The process of testing existing epilepsy treatments and potential new medicines that could possibly be repurposed for PURA syndrome and developing a treatment guide for PURA families and their clinicians).

For greater explanation of these goals please download the overview document for our Global Epilepsy Research Project.  Download - PURA Syndrome Epilepsy Research Project (English)

PURA Syndrome Global Epilepsy Research Project

Supporting Institutions /
Groups:

 

  • Danish Epilepsy Research Hospital (Filadelfia), Denmark 

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

  • University of Southampton, UK

  • Helmholtz Zentrum Munchen, Germany

  • Temple University Philadelphia, USA

  • DZNE (German Centre for Neurodegenerative Diseases) Munich, Germany. 

  • PURA Syndrome Foundation

  • PURA syndrome families

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The PURA Syndrome Foundation is currently providing funds towards:

 

  • The PURA Syndrome Global Patient Registry (includes questionnaires on neurology and epilepsy) - System development and staffing support: University of Southampton, UK

  • Open access (enabling all families and their doctors access) for 2019/2020 PURA Epilepsy Published Papers: Filadelfia Epilepsy Research Hospital, Denmark 

  • Zebrafish model studies to help locate possible new treatments - DZNE (German Centre for Neurodegenerative Diseases ) Munich, Germany.

  • PURA Syndrome Global Biobanks - 3 in development - UK, EU, USA      

 

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.
 

The first round of clinical epilepsy studies commenced in 2018. These studies will form the basis of initial papers to be published in 2019. 

EEG Research Study:  Jan - March 2019

Clinicians and neurophysiologists at the Danish Epilepsy Research Hospital (Filadelfia), Denmark, and Maastricht University Medical Centre and Academic Centre for Epileptology (The Netherlands) are completing EEG research for PURA syndrome.
Click here to read more about the EEG Study.

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