For Researchers
Our Role in Research
Welcome to the Phelan-McDermid Syndrome Foundation (PMSF). We are a patient advocacy group dedicated to accelerating PMS research through patient engagement, creating biosample repositories, maintaining a genetic patient registry called PMS DataHub, organizing symposia and conferences, and funding fellowships…
Our goal is to accelerate discoveries in fundamental Phelan-McDermid syndrome (PMS) research toward clinical testing, with the goal of improving the lives of those diagnosed with PMS. Our emphasis on translational and clinical research will ensure that new ideas are constantly flowing into the drug pipeline and our neuro-habilitation platforms are aimed at accelerating treatments for Phelan-McDermid syndrome.
PMS DataHub Requests
The PMSF has created the largest patient contact registry and data repository for Phelan-McDermid syndrome (PMS). Our goal is to make high-quality patient data accessible and available to researchers and connect potential participants to research studies and clinical trials. Researchers interested in conducting studies with any information collected in the PMS DataHub, (the platform for this data), can complete an application that will be reviewed by the PMSF.
Types of Data Requests:
Data Exports
The PMS DataHub includes data from the previously used PMS International Registry (PMSIR) (data collected before 2021), and new DataHub surveys (after 2021). The PMSIR contains the following surveys: developmental, clinical, adolescent and adult, autism symptoms, alternative medicine, behaviors, health history, sleep habits, and regression. The PMSIR also contains genetic data from over 600 PMS patients. The launch of the new DataHub (post-2021) is currently in development – but will include curated genetic report uploads, a general health survey, and a symptom and medications tracker. The DataHub is designed to be more user-friendly for families and researchers, by standardizing survey responses and facilitating analysis.
Researchers may apply for data exports containing de-identified clinical data from either one or both of these sources. Keep in mind that data from new DataHub surveys (2021 and onward) will not be available until 2022.
Recruitment
Researchers also may apply to recruit DataHub members to their study or clinical trial. Contact information from the DataHub platform will be used to recruit study participants. Recruitment includes gathering any data which was not previously collected, including the use of new surveys. Researchers will be required to submit several documents, such as IRB-approved recruitment language, within our Data Access Application in order to conduct recruitment.
How to apply:
To express interest in applying for data exports and/or recruitment, please contact our DataHub Administrator at datahub@pmsf.org with the Subject line: “PMS DataHub Research Request.” You will receive an email describing the available data and will be asked to complete an electronic application including study details, rationale, study team information, and you will be asked to submit supplemental documents specific to the request.
If you have questions or would like more information about available data or recruitment, please contact our DataHub Administrator at datahub@pmsf.org. We are happy to engage with researchers at the early stages of study design to provide advice and feedback and to facilitate a smooth data or recruitment application process.