A Year-End Gift: 2024 PMSF Family Conference Recordings Now Available
As we wrap up 2024, we’re thrilled to share a special gift with our PMSF community: access to all the
December 16, 2024
Research
Our Role
The Phelan-McDermid Syndrome Foundation (PMSF) works closely with researchers, pharmacological companies, biotechnology, academic institutions, and other external scientists with the ultimate goal of finding effective treatments for Phelan-McDermid syndrome (PMS).
The PMSF contributes to research by breaking down barriers to patient participation. We provide information and access to research opportunities as well as offer financial assistance for travel costs to certain research sites. We work with our international scientific advisory committee (SAC) to set strategic goals in research and science for the PMSF and to stay informed of international PMS projects and research.
The Foundation maintains a current list of clinical trials here.
The PMSF has awarded grants and fellowships and advocated for focused research and funding. PMSF was awarded a Patient-Centered Outcomes Research Institute (PCORI) grant contract for the creation of a patient registry and continues to partner on key patient-focused research initiatives.
We believe that the PMS community offers critical information that can guide research. Increasingly, researchers are aware of the value of the patient experience and voice. More often now, research is guided by the outcomes that are most valued by the affected patient population. Our family community is involved in reviewing research protocols to ensure that research initiatives are meaningful for our families, that the processes are reasonable for our population, and consents are clearly articulated.
Research Progress
The precursor to clinical trials and effective therapeutics is basic research. The scientific community performs a systematic study of animal models and human cells to gain greater knowledge of the disease mechanisms of Phelan-McDermid syndrome. Scientists have studied PMS in fruit flies, zebrafish, mice, non-human primates, and human cells in culture. The PMS community has been instrumental in providing genetic reports and medical surveys to ensure these model systems accurately reflect human disease. We are in close contact with leading scientists through our Scientific Advisory Committee and through relationships formed with researchers worldwide to stay informed on strides made in basic and clinical research
Why Participate In a Clinical Study?
- Help current and future patients by contributing to research and science
- Advance the understanding of Phelan McDermid syndrome.
- Gain access to potential therapies before they become widely available
A clinical study involves research using human volunteers that is intended to add to medical knowledge. There are two main types of clinical studies: interventional clinical trials and observational clinical research studies. Below are opportunities for families to participate in clinical research and clinical trial studies.
It is a personal decision on how, when, and why to participate in clinical research. The PMSF can help direct you to the information and resource to help you make your decision. If you have questions, contact us.
Our Natural History Study
Natural History studies are clinical studies that help medical professionals catalog the hallmarks of disease and study how they progress over time. By collecting demographics, genetics, environmental impacts, and other information, natural history studies can help define patterns of disease. These patterns are essential for developing clinical guidelines, identifying research priorities, and assessing the effectiveness of the clinical intervention.
Phelan-McDermid syndrome (PMS) is one of three rare conditions that is being studied within the Rare Disease Clinical Research Network (RDCRN) Developmental Synaptopathies Consortium (DSC). Synaptopathies are conditions that impact the communication between neurons in our brain. The DSC is designed to advance medical research on rare synaptopathies, like PMS, by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing.
Participate in the Natural History Study
Learn More about the RDCRN Developmental Synaptopathies Consortium (DSC)
Why Are Natural History Studies Important?
Participate in the Natural History Study
This phase of the study is CLOSED to enrollment, but research sites continue to see enrolled participants. Currently enrolled participants with Phelan-McDermid Syndrome are being seen at one of five DSC sites in the United States.:
- Boston Children’s Hospital, Boston, Massachusetts
- Mount Sinai, New York, New York
- National Institute of Mental Health (NIMH), Washington, DC
- Rush University Medical Center, Rushville, IN
- Stanford University Medical Center, Palo Alto, California
Contact info@pmsf.org if you would like more information.
Learn More about the RDCRN Developmental Synaptopathies Consortium (DSC)
Click here for an introductory message from Dr. Mustafa Sahin, Boston Children’s Hospital, who is the Principal Investigator (PI) of our DSC Natural History Study. There are five medical centers around the United States who are participating in the RDCRN Developmental Synaptopathies Consortium (DSC) Natural History Study.
This is a longitudinal natural history study that has been funded by the National Institutes of Health(NIH) / National Center for Advancing Translational Science (NCATS). Through the RDCRN consortia, physician-scientists and their multidisciplinary teams work together with patient advocacy groups to study more than 200 rare diseases at sites across the nation. The DSC program is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing.
Things the research teams accomplished in Phase I, the first 5 years
- Established a database for the natural history of PMS which allows for ongoing and future studies
- Established relationships with the patient advocacy groups
- We were able to publish several articles with our findings that can be used in determining clinical care
- Expanded the research to include PMS adults
Things the research team hopes to learn more about in Phase II, the coming 5 years
- Comprehensive clinical care guidelines
- Identify biomarkers that predict risk for disease severity/progress
- Better characterize the developmental presentation across the life span
Things the families that participated in the first 5 years of the DSC gained
- Comprehensive neuropsychological exam over three years.
- Neurological exams from our experienced clinical teams
- A better understanding of the research process for future studies
- PMSF funded a pilot Adult Study that will continue into Phase II
Why Are Natural History Studies Important?
One of the reasons that natural history studies are so important is that they help advance the understanding of a rare disease, such as Phelan-McDermid syndrome. Natural history studies catalog the hallmarks of the disease and study how they progress over time while unfolding patterns that might otherwise go unnoticed. A longitudinal natural history study can track the course of the disease throughout a person’s life. Natural History studies are intended to describe all aspects of the disease and identify demographics, genetics, environmental impact, and other correlations with the disease and outcomes.
Once significant natural history study data is available for a disease state, it can help with patient care including the development of clinical care guidelines and identifying research priorities. Information obtained from a natural history study can also play an important role at every stage of drug development, from drug discovery to the design of clinical studies intended to support a drug’s marketing approval.
The significance of the data cannot be emphasized enough. Outcome measures are the foundation upon which a trial is deemed successful or not. For instance, without a natural history study in place defining the progression of Phelan-McDermid syndrome, it could be difficult to determine how any experimental therapy has made a difference in the progress of symptoms.
Participate in Research Surveys
Researchers contact the PMSF for help with informing and inviting the Phelan-McDermid community to participate in approved and funded research studies that involve gathering information from the patient community. These surveys are reviewed for interest and ease of completion by our Parent Advisory Committee members. If you are interested in participating in this type of research, be sure to enroll in the PMS DataHub in order to match you with surveys.
Clinical Trials
Clinical trials are conducted to ensure the safety and benefit of a new drug in development. You will find a list of trials related to Phelan-McDermid syndrome on this clincialtrials.gov page. Always contact the trial coordinator directly to get answers to your questions about a specific trial. Clinical trials are typically conducted in four separate phases. Below you will find a link to a guide about clinical trials to help you understand the purpose of the phases and a link to a decision matrix guide that may help you with questions for the trial coordinator:
Phase I
Phase I trials are the first set of studies with human participants, designed to assess the safety and tolerability of a drug. This monitors how a drug interacts with the body and helps to determine the correct dosage.
Phase II
Phase II trials are designed to evaluate drug safety and benefit (efficacy) in people with the disease or condition being studied and determine the potential short-term adverse effects and risks associated with a drug.
Phase III
Phase Ill trials measure drug safety and benefit (efficacy) and monitor for any adverse reactions. These studies are longer in duration and provide most of the safety data needed for regulatory approval.
Phase IV
Phase IV trials are conducted once a drug has been approved by FDA during Post-Market Safety Monitoring and are designed to monitor for any adverse effects over a longer time period.
Research Roundup & News
The Research Roundup is a summary of significant and recent research related to Phelan-McDermid syndrome.
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