Globally, an estimated 350 million people are affected by a rare disease diagnosis. Knowledge limitations persist for the majority of rare conditions due to systemic and structural challenges in healthcare and research. Disease-specific patient populations are often small and geographically dispersed; funding support for research is restricted; and diagnostic delays are common due to disease complexities, limited medical training for practitioners, and evolving foundational knowledge related to disease characterization. Patient registries can be effective, convenient, and cost-efficient tools to support documentation of the natural history of a disease, centering patients as research partners in the process while uniting rare communities around a common initiative. Current global trends towards innovative and patient-centered healthcare are enabling patient registries to increasingly emerge as valuable tools for use within rare disease research and drug development. This article describes the value of and rationale for establishing rare disease patient registries and the considerations and challenges that stakeholders, such as researchers, industry, health care providers, and patient community organizations, may encounter.

e18291 Background: Desmoid tumors (DTs) are sarcoma, known to invade surrounding tissues, compromising organ function and complications. As few as 5 per 1 million people are diagnosed with DTs annually, which may be an underestimate of the actual affected population due to difficulty in correctly diagnosing the disease. To improve awareness of DTs and better inform treatment development, DTRF, in partnership with the NORD, launched the DTRF patient registry and natural history study. Here, we describe patient demographics, tumor location, and QOL in registry patients. Methods: The registry launched September 2017 and contains 15 surveys covering diagnostics, disease, treatment, care management, and quality of life. As of January 2019, 357 patients have completed 2,371 surveys. Results: Registry participants are mostly white (88%, 313/357), female (81%, 277/343), and reside in 27 countries with 80% (285/357) US-based. Median age at diagnosis is 33 and the time from onset of symptoms to diagnosis was more than 1 year for 54% (189/352). DT location was reported for 119 respondents at time of data collection. Most prevalent locations were joint /extremities (39%, 47/119), intra-abdominal (24%, 28/119), and chest wall (24%, 29/119). Multiple locations were indicated for 22% (26/119). QOL reported as very good or excellent ranged from 28% to 60%, depending on DT location. Conclusions: Patients with DTs have varied QOL and tumor locations. Data collection through the study is ongoing. [Table: see text]

scooter) to assist them with mobility. 51% of CMT1A patients have had orthopedic surgery as a remedy to gain additional mobility or to reduce loss of function. Maintaining balance and walking stamina were cited as most challenging by 28% of patients. A significant by-product of mobility challenges is fatigue, reported by 85% of CMT1A patients. Pain is cited by 77%. Conclusions: Mobility impairments are represented in a large cohort of CMT1A patients, affecting their physical and psychological well being. While use of orthotics, mobility devices, and surgery can have a positive impact on mobility, CMT1A patients need a more cohesive and comprehensive approach to addressing mobility impairment.

patients) of them were women, since these disorders are more commonly diagnosed in women because of the menstrual cycle and the haemostatic challenge of childbirths. The hemorrhagic history of the patients was serious menhorhagia (female), bruises and the excessive bleeding following surgical or dental procedures (male and female) patients. 110 patients were diagnosed as disorders of platelet secretion and signal transduction (WARD), 51 as aspirin like defect (ALD), 27 had abnormal aggregation to collagen, 8 abnormal aggregation to several agonists, 2 as thrombasthenia Glanzmann and 2 cases of MYH9 related disorders. Abnormal platelet morphology was found in 58 out of the 223 patients. 30 family members from 14 families that were investigated and detected with ALD (7 families), WARD (3 families) and collagen receptor defect (3 families) and MYH9 related (1 family). Summary/Conclusion: Thought platelet disorders are mostly undiagnosed causes of symptomatic bleeding a remarkable percentage was found in our patients. The exact prevalence in the general population is not yet established. Aggregation tests give a lot of information about various platelet disorders as seen in our patients and seem to remain the gold standard in the evaluation of platelet disorders. Families' studies are reasonable in order to detect such abnormalities.

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.