MPEI Website Links & Research

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Niamh's Journey

Websites

MPEI Parent Led

Medical led

Research Papers

Current Research

We are currently aware of 3 research groups that are looking to involve children that have been diagnosed with MPEI. These 3 groups are collaborating to form the first ever global study of children with MPEI.

In the UK there is a group led by Dr Amy McTague & Dr Manju Kurian that is specifically looking into gentic causes of MPEI, another group in Boston, USA and one in Victoria, Australia that are all actively involved in investigating possible underlying causes of early onset infant epilepsy including MPEI.

If you are a parent of a child diagnosed with MPEI and you would like your child to be involved with this research, please use the reserach contact e-mails below.

I also have copies of consent forms for the UK study which I can e-mail on request.

UK Research - Summary by Dr Amy McTague & Dr Manju Kurian - Great Ormond Street Children’s Hospital, London, UK

In collaboration with colleagues at Great Ormond Street Hospital and Alder Hey Children's Hospital, Dr McTague is currently undertaking a study to investigate the genetic basis of MPSI.

In May 2013 Dr McTague published a paper in Brain 2013 which studied 14 children over 2 years. Her layman's summary of the paper can be accessed by clicking HERE. Her paper describes new symptoms that have been commonly found amongst affected children, thus expanding the clinical picture of this condition. The group also identified a genetic basis of disease for a number of children which is an enormous step forward for this rare and complicated condition. Details of her findings can also be found in the main body of the MPEI section of this website.

Dr McTague will soon be publishing a follow up paper to include further results and data.

WORK IS STILL ONGOING!

Dr McTague is still recruiting diagnosed children to take part in further studies. As the groups in Boston & Australia are all working togther, you need not apply if you are already enrolled with another group.

Families would be asked to consent to be in the study, blood samples would then be analysed to look for suspected genetic abnormalities. If they can find a genetic abnormality or mutation, it may help them diagnose MPSI more quickly in the future and avoid unnecessary and invasive tests. It may also help them understand what is going on in the brains of children with MPSI - for example if they identity a gene, they can work out which protein the gene codes for and then work out the protein’s function in the body and how a fault in this protein might lead to MPSI.

The ultimate hope would be that understanding what causes MPSI may help them in the long term to identify new treatments to improve outcome.
 

MctagA@gosh.nhs.uk 

Department of Neurology
Great Ormond Street Hospital
Great Ormond Street
London WC1N 3JH

www.gosh.nhs.uk

USA Research - Boston Study

The Boston Study are investigating underlying causes of early onset epilepsy of which MPEI is included.

The research specialist Brenda Barry can be contacted at: walshresearch@childrens.harvard.edu or Brenda.Barry2@childrens.harvard.edu  

Alternatively you can visit the laboratory website for more information: http://www.walshlab.org

How the Boston Study Works

Step 1:
Brenda Barry will send you an “application pack” where you fill in a family medical history form and another questionnaire for your MPEI child
They also have a "copy of medical records" form which needs to be filled in to get copies of MRI scans, EEG results and genetic tests already done from your doctors.

When this is all completed you post all the info to them (they usually pay courier charge to send it to them) but some of the info might be sent directly from your hospital.
Specialists then look over the MRI and EEG recordings and they tell you their opinion on what they find.

Step 2:
If you fit the “criteria” for their research study they will then send you a testing kit where they request blood and other samples from children and parents – all collection vials instructions etc are in the pack) bloods do not all have to be collected at the same time and can be sent back just whenever you get them done.

Step 3:
Parents already involved in this study have commented on how easy this study is to be involved with and the fact that they receive prompt responses and feedback from the lab regularly.

Further Information

Brenda J. Barry, MS, CGC
Walsh Laboratory
Licensed Genetic Counselor and Research Coordinator

Children's Hospital Boston
Phone: 617-919-4371 | Fax: 617-919-2300 | Website: www.walshlab.org

Postal details are as follows:

Address for routine postal mail:

300 Longwood Avenue, Childrens Hospital Boston-Genetics, CLS 15070-Walsh Lab, Boston, MA 02115

Address for FedEx, UPS and other courier services:

3 Blackfan Street, Childrens Hospital Boston-Genetics, CLS 15070-Walsh Lab, Boston, MA 02115