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PRO56 UNDERSTANDING DISEASE AND BURDEN IN SYNGAP1-RELATED NON-SYNDROMIC INTELLECTUAL DISABILITY (NSID) PATIENTS USING A PATIENT REGISTRY DATABASE

      Objectives

      SYNGAP1-NSID is thought to result from limited functional levels of SynGAP protein, a protein critical in proper brain development and function. Predominantly affecting children, SYNGAP1 mutations lead to developmental delay, intellectual disability, and additional symptoms that are common with other causes. As such, confirmation of SYNGAP-related NSID is through genetic testing. To improve awareness and understanding of SYNGAP-related NSID and better inform treatment development, the Bridge the Gap Education and Research Foundation, in partnership with the National Organization for Rare Disorders and support from the US Food and Drug Administration, launched the SYNGAP1 (MRD5) patient registry in 2017. Here, we describe patient demographics, diagnoses, and quality of life in registry patients.

      Methods

      The registry contains 13 surveys covering diagnostics, disease, treatment, care management, and quality of life. As of December 2018, 105 patients have provided data for 717 survey submissions.

      Results

      Registry participants are mostly white (89%, 93/105) and female (54%, 57/105) and reside in 21 countries with 54% (57/105) US-based. All respondents (78/78) indicated genetic testing in the SYNGAP diagnosis process. Most patients were also diagnosed with epilepsy (83%, 48/58) and/or autism spectrum disorder (55%, 32/58). Additional reported diagnoses or conditions included impaired or delayed gross motor skills (98%, 55/56), orthopedic problems (56%, 31/55), sensory disorders (34%, 20/59), skin disorders (26%, 14/54), respiratory issues (7%, 4/55), and/or cardiovascular issues (2%, 1/55). Over half of respondents (54%, 28/52) indicated that their health problems affected every day functioning; 62% (31/50) indicated that health issues limited the ability to perform activities s/he enjoys most.

      Conclusions

      Patients in the registry have significant disease burden and impacted quality of life. Data collection through the SYNGAP1 (MRD5) patient registry continues with the intent of raising awareness of the disease and enabling the development of treatments.