SYNGAP1 (MRD5) Natural History Study Registry
The primary aim of the SYNGAP1 (MRD5) Natural History Study Registry is to conduct a prospectively-planned and efficient natural history study that will result in the most comprehensive understanding of the disease and its course and pace over time. A critical amount of clinical information is needed to understand what is causing any disease and the purpose of registries are to capture information from each patient that may shed light on understanding how to pursue treatments. Since SYNGAP is rare, there are so few patients, it is critical that every patient is registered. This information will bring together information in order to understand the diversity of the disease. This program is made possible with the help and partnership of the National Organization of Rare Disease (NORD) and the US Federal Drug Administration (FDA).
Other registry objectives include the following:
● Provide a convenient online platform for participants (or caregivers) to self-report cases of SYNGAP1 (MRD5).
● Develop a communications registry within the SYNGAP1 (MRD5) Natural History Study Registry (e.g., to notify patients of research studies and clinical trials).
● Characterize and describe the SYNGAP1 (MRD5) population as a whole, enhancing the understanding of disease prevalence and spectrum of the phenotype as well as the rate of progression of disease characteristics.
● Assist the SYNGAP1 (MRD5) community with the development of clinical guidelines and standards of care.
● Be a resource for researchers who seek to study the pathophysiology of SYNGAP1 (MRD5), retrospectively collate intervention outcomes, and design prospective trials of novel treatments.
International SYNGAP1 Conference
One of the primary goals is to maximize scientific resources by building collaborative approaches that are efficient and synergistic. Our scientific conferences will focus on bringing the world experts together to strategize how to move forward with research targeting therapeutic solutions for patients with SYNGAP1 Syndrome.
The SYNGAP1 International Stakeholder Conferences bring together Patient Families, Researchers, and Clinicians.
There are several goals for this meeting:
(1) To bring together internationally-recognized basic scientists and clinicians interested in the function of SYNGAP1
protein, the disease substrates underlying the disorder, and developing novel therapies for rare genetic disorders.
(2) To further the understanding of SYNGAP1 in normal brain function and to develop a consensus on the most effective avenues toward novel treatments.
(3) To expand the SYNGAP1 research and clinical community, including the introduction of junior scientists and clinicians, postdoctoral and clinical fellows and graduate students to the importance of studying this and related rare diseases.
(4) To grow the emerging international SYNGAP1 research and clinical network in an effort to foster fully collaborative multi-laboratory basic research, to enhance participation in the already-existing MRD5 patient registry, and to catalyze a natural history study in order to advance patient care and treatment.
SYNGAP1 Family Meetups
Our primary objective is to empower the patient and stress the importance of their involvement in driving research. With this goal in mind, we believe that having all the s stakeholders in conversation will communicate the
importance of patient advocacy and their role in accelerating ongoing research and get to treatments faster.
Our goals are to provide support, education, and resources. Foundation representatives will provide up to date research information and present current findings on data collected from the SYNGAP1 Registry and Natural History Study. This will also afford better communication and patient engagement in the ongoing research driven by the foundation registry charter. Clinicians and scientists will be presenting information on current research and be available to answer questions in an open forum. This will also give families an opportunity to ask questions and get clarification from the experts. The education the families will take away from the meeting is intended to reach treating clinicians of SYNGAP1 patients and give families and caregivers a secure knowledge base of the disease and how to best approach available treatments.
The purpose of the SYNGAP1 COE Program is to:
● Provide superior neurological care to patients in the specific regions of the US and allow better access for patients with SYNGAP1 mutations to get expert care.
● Encourage multidisciplinary collaboration between departments, including Psychiatry, Neurology, Developmental Pediatrics, Pediatrics, Occupational Therapy, Physical Therapy, and Physical Medicine.
● Provide opportunities to integrate clinical care with teaching and research.
● Engage in clinical research to determine which treatment modalities yield the best results. Benefits of the SYNGAP1 COE Program shall produce the following benefits for the
Participating Medical Centers:
● An interdisciplinary approach to the diagnosis and treatment of the neurological problems caused by SYNGAP1 mutations.
● An efficient system for the treatment of patients dependent upon their symptoms and conditions
● The provision of both surgical and nonsurgical solutions to patients’ problems
● The objective assessment of different treatment modalities to determine their benefits
● Efficient use of resources
● More convenient to accommodate patients involved in clinical trials or pilot programs
SYNGAP 1 Centers of Excellence
Our participating Institutes offer a comprehensive set of services: Not just core services, but advanced services and support services specifically geared to treating patients with SYNGAP1 Syndrome. The range of services often spans the entire continuum of care, not merely the acute care procedure. We currently are working with Texas Children’s Hospital and Johns Hopkins to be our first SYNGAP1 Centers of Excellence. We will work in the next five years to obtain two additional Centers of Excellence, one on the West Coast of the United States and another in Europe to serve and support our International families abroad.
Texas Children’s Hospital/Baylor College of Medicine
Jimmy Holder; MD, PhD
Blue Bird Clinic of Neurology
Texas Children’s Hospital – Clinical Care Center
Address: 6701 Fannin St, Houston, TX 77030
Phone: +1 (832) 822-0996
For More Information Contact Truzella Benton
John’s Hopkins University/Kennedy Krieger Institute
Mike Johnston, MD
S. Ali Fatemi, MD, MBA
Constance Smith-Hicks, MD, PhD
707 N Broadway
Baltimore, MD 21205
Local: +1 (443)923-9400
Stanford Medical Health
Maura Ruzhnikov, MD
Clinical Assistant Professor
730 Welch Rd 2nd Floor
Palo Alto, CA 94304
15319 Redbud Berry Way Cypress, Texas 77433
1012 14th Street NW Suite 500 Washington D.C. 20005
©2019 Bridge the Gap – SYNGAP ERF All Rights Reserved