Research and the DataHub

The SynaG study at King's College London

The Synaptic Gene Study (SynaG) is the leading research project into PMS in the UK. Dr Eva Loth, of the Institute of Psychiatry, Psychology and Neuroscience at King's College London, set it up in 2015 to look specifically at PMS. At the time it was the first ever UK multi-disciplinary clinical research study into the syndrome.

In 2019 SynaG grew to include another synaptic gene condition linked with autism, NRXN1 deletions. That part of the study is led by Professor Louise Gallagher at the Trinity Institute of Neurosciences, Trinity College Dublin.

Starting from the genes ("gene first"), SynaG aims to:

• understand how often autistic features appear in each rare genetic syndrome
• understand the similarities and differences between synaptic gene conditions, and the differences between people with the same condition, such as people with PMS
• find biological markers (biomarkers) linked to specific genetic differences
• look at how the number and size of genetic deletions, and environmental factors, explain differences between individuals

SynaG has helped to create the first European research community focused on PMS. At King's College London alone it has studied 25 children with PMS, and it is still growing.

Dr Loth's team works closely with other clinical research teams, including the Developmental Synaptopathies Consortium led by Professor Alex Kolevzon at the Icahn School of Medicine at Mount Sinai Hospital, New York. Eva is also a Scientific Advisor to PMSF in the USA, and her team, including Dr Cooke and Dr San José Cáceres, is contributing to European and US consensus guidelines on the treatment and management of PMS.

SynaG researchers take part in our Family Days and send newsletters to keep families up to date with the latest results. With your help, this partnership will continue.

AIMS-2-TRIALS

SynaG is part of AIMS-2-TRIALS, an international research consortium working towards precision medicine for autism: matching new therapies to each person's profile, to give families more and better treatment options and improve quality of life.

AIMS-2-TRIALS has 48 partners in 14 countries and several linked studies with more than 1,500 participants with autism and related conditions, from birth to adulthood. It started in 2019 and built on an earlier European consortium, EU-AIMS (2012 to 2019). EU-AIMS and AIMS-2-TRIALS have worked with PMSF UK since 2015.

AIMS-2-TRIALS website (external website) · Developmental Synaptopathies Consortium (external website)

The international PMS DataHub

Joining PMSF is not the same as joining the DataHub (formerly the PMS International Registry). They do different, important jobs, and we encourage every family affected by PMS to do both.

The DataHub stores information that helps researchers, drug companies and others working to understand PMS. You share the genetic report of your child or adult with PMS and answer a few short online surveys.

For example, many scientists study the link between specific missing genes and their effects, such as absent speech or gastrointestinal reflux. Genetic reports together with recorded symptoms help drive this research forward, and make sure people with PMS are represented in science.

How your information is protected

• Your medical information is given an identifier and separated from your name and personal details before it is shared with researchers.
• Every request for data goes through a rigorous approval process, including review by patient advocates.
• The DataHub is also used to tell people when they may be eligible for a study or clinical trial.

The more good-quality data there is, the more interest there will be from researchers and drug developers. The information you provide can inspire research, show trends in our community and help target treatments.