The Phelan-McDermid Syndrome Foundation (PMSF)
The PMSF Foundation is based in the United States and its mission is "to bring together people affected by 22q13 deletion syndrome / Phelan-McDermid syndrome to help them through the challenges they face every day and to raise awareness in the medical community and scientist. The syndrome, which affects families around the world, is caused by a 22q13 deletion or a mutation in the SHANK3 gene ” source: Phelan-McDermid Foundation.
Since 2011, an online “registry link” patient registry has been the world's largest database of patients with PMS syndrome, which is accessible to all international researchers. (PMS: refers to a patient with Phelan-McDermid syndrome )
This register guarantees the confidentiality of patients and their families because the information concerning your child is "anonymized". The goal: to improve the quality of life of people with the syndrome and accelerate the discovery of a treatment for PMS.
Important: For families who have already filled in the register, it is necessary to update their data and sign the consent form.
Globally, 981 PMS people were registered as of July 2016 in this registry, among the 1379 who are registered with the Foundation. At the end of 2020 there were 1605 PMS people who contribute to the registry out of 2613 people diagnosed around the world. The number of diagnoses has doubled in 4 years and it is important that families also complete this registry by answering questions in order to help research.
Research conducted by the PMSF foundation
Research has shown in mice that an IGF1 molecule can repair certain sequences in the brain.
Clinical studies are taking place in the USA on 30 children from 5 to 12 years old; and as stated by the Foundation “The aim of this study is to test the use of insulin-like growth factor-1 (IGF-1) as a treatment for 22q13 deletion syndrome ( Phelan-McDermid syndrome) caused by the deficiency of the SHANK3 gene and to assess its safety, tolerance and efficacy ”. Positive progress has been observed on the cognitive and autistic aspect among patients with very short deletions but this molecule cannot be administered in the long term because of adverse effects.
link on past and current studies of IGF1