Research in Phelan-McDermid Syndrome through the AIMS-2-TRIALS
AIMS-2-TRIALS is an international research consortium aimed at developing precision medicine for Autism, which involves tailoring innovative therapies to individual profiles (https://www.aims-2-trials.eu). The goal is to improve treatment options and choice for individuals and their families, to improve quality of life and lead to better outcomes. It comprises of 48 partners across 14 countries and includes several linked research studies with over 1,500 participants with autism and related neurodevelopmental conditions from birth to adulthood. AIMS-2-TRIALS started in 2019 and extends an earlier European consortium called EU-AIMS (2012-2019).
The Synaptic Gene Study (SynaG) is a research study within AIMS-2-TRIALS that started under the auspices of EU-AIMS. Dr Eva Loth from the Institute of Psychiatry, Psychology, and Neuroscience, King’s College London created the SynaG study in 2015 to look specifically at PMS, which at the time was the first ever UK multi-disciplinary clinical research study into the syndrome. In 2019, the SynaG study expanded to also look at another synaptic gene condition associated with autism, namely NRXN1 deletions. This part of the study is led by Professor Louise Gallagher at the Trinity Institute of Neurosciences, Trinity College Dublin, Ireland. Using a “gene-first” approach, SynaG aims to:-
Understand the frequency of autistic features in each rare genetic syndrome,
Understand similarities and differences between synaptic gene conditions as well as variability within each condition (i.e., variability among people with PMS),
To identify mechanistic biological markers (biomarkers) linked to specific genetic atypicalities,
To examine the role of number and size of genetic deletions and environmental factors in individual differences.
The EU-AIMS/AIMS-2-TRIALS consortiums have been in active collaboration with the Phelan-McDermid Syndrome Foundation UK (PMSF UK) since 2015. The SynaG study remains the leading research project into PMS in the UK and has helped to create the first European research community focused on PMS. At King’s College London alone, SynaG has studied 25 children with PMS and is still growing. Dr Eva Loth’s research team collaborate closely with other clinical research teams in the field, including the Developmental Synaptopathies Consortium led by Professor Alex Kolevzon at the Icahn School of Medicine at Mount Sinai Hospital in New York (https://www1.rarediseasesnetwork.org/cms/DSC). Eva is also a Scientific Advisor to PMSF in the USA, and her team, including Dr Cooke and Dr San José Cáceres are contributing to both European and US consensus guidelines on the treatment and management of PMS.
SynaG researchers are actively engaged with the PMS community through participating in regular family days run by PMSF UK and providing newsletters to keep families informed with the latest research results and advances in PMS. The successful partnership between researchers and PMSF UK is sure to continue with your help.
The International DataHub
Joining PMSF is different to joining the DataHub (formerly PMS International Registry). We encourage everyone with a family member affected by Phelan-McDermid syndrome (PMS) to register for membership with PMSF AND enroll in the DataHub. They serve different and important functions within PMSF.
The DataHub is where we will store information that assists researchers, pharmacological companies, and others who are working to unlock the many aspects of Phelan-McDermid syndrome. By sharing the genetic report of the child or adult with PMS and answering a few quick and easy surveys online, you are a part of changing the future. For example, to understand PMS better, many scientists have focused on the link between the absence of specific genes and the impacts of not having those genes, like absence of speech, or having gastrointestinal reflux. By providing both genetic reports and tracked symptoms, individuals with PMS and their families help to drive forward this research. By participating, individuals with PMS and their families also ensure they are represented in science.In the DataHub, your medical information is given an identifier and disconnected from your name and demographic information before being shared with researchers. The database is also used to notify those who qualify for studies or clinical trials about their eligibility. All requests for data go through a rigorous process before being approved, including review by patient advocates like you.
The more high-quality data, the more interest there will be from researchers and drug development companies. The genetic and medical information you provide can inspire research, identify trends in our community, and help target areas for therapeutic intervention.