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Chondrosarcoma CS Foundation, Inc.

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    Insights from the NORD Summit on the Chondrosarcoma Patient Registry

    The Chondrosarcoma Foundation had the opportunity to share the results of their first data analysis of the Chondrosarcoma Patient Registry at the NORD: National Organization for Rare Disorders Breakthrough Summit held October 20-22 in Washington, DC. The three-day conference was attended by over 900 attendees representing government health agencies, industry leaders, pharmaceutical companies, academic researchers, patients with rare disease and patient advocacy groups. In addition to the Summit program, there were approximately 75 Poster Presentations representing the broad spectrum of rare diseases.

    Insights:

    We found a lot of compatibility between the results of the data we presented and other rare diseases who presented their data at the Summit. For example, the rates of misdiagnosis were similar and in some cases higher than the 41.1% we reported. The timelines were also similar between experiencing initial symptoms and obtaining an initial diagnosis (434 days) and those who were misdiagnosed adding an additional 504 days before receiving a diagnosis of Chondrosarcoma and obtaining treatment three months later. Another striking similarity was the low rate of obtaining a genetic sequencing test, several rare disease groups reporting lower rates than our reported 18.9%.

    Other similar results included:

    Demographic Characteristics: The average age of chondrosarcoma patients in the registry was ~51 years. Most of them were white (88.2%) and resided in the US (71.6%). The predominant sex was female (69.8%), although the literature implies the disease is more frequent among males. Mainly, patients themselves (85.8%) completed the survey and provided data on their health condition.

    Diagnostic Pathways: The most frequent symptoms occurred in chondrosarcoma patients were pain (64.5%), lump/swelling (29.6%), and restricted mobility (23.1%). About half of the study population (48.9%) was initially diagnosed with chondrosarcoma. Misdiagnosis was detected in 41.1% of patients with other than chondrosarcoma initial diagnoses.

    Time-to-Event Analysis: The average time from misdiagnosis to a diagnosis of chondrosarcoma was 504 days. A more in-depth analysis is needed to determine what services and what costs were obtained from the initial symptoms to the diagnosis of chondrosarcoma.

    Recurrence and Metastasis: Almost a third (32.5%) of the chondrosarcoma population had disease recurrence, and metastasis was noted in 29.0% of chondrosarcoma patients.

    Surgeries: Surgeries were provided to 75.7% of chondrosarcoma patients. Surgical complications occurred in 17.2% of patients treated with such interventions. A significantly higher proportion of conventional chondrosarcoma patients had surgical complications and required a second surgery for chondrosarcoma.

    Other Therapies: Radiation therapy was provided to 26.0% of patients, with a significantly higher proportion of conventional patients treated with proton radiation therapy. Chemotherapy and other medications were provided to 14.8% of chondrosarcoma patients. Only 4.7% of patients were treated with immunotherapy and 4.7% of patients received ablation.

    Quality of Life: The quality of life of chondrosarcoma patients assessed via PROMIS Global Health Questionnaire was lower than in other cancer types. The average EQ-5D-3L score of chondrosarcoma patients was 0.65 points and was similar between conventional and non-conventional cohorts. There is a need for treatments that will improve Chondrosarcoma patient quality of life, including mental health services.

    One finding that requires more investigation is the gap in transfer knowledge. Only half of the study sample (49.7%) knew their chondrosarcoma subtype. Conventional chondrosarcoma was diagnosed in ~38% of patients with a known subtype (mostly grade 2), while dedifferentiated was the most common non-conventional subtype (~23%). The results of our first data analysis show that Patients need to be better informed of their Chondrosarcoma subtype.

    Sharing the data from the Patient Registry at the NORD Breakthrough Summit was insightful. From my experience, it affirmed that our data is similar to other rare diseases and one can assume that we are on the right track with our analysis. The results of our first analysis raised a number of questions that we intend to explore in our next version of the Patient Registry. We are also exploring the possibility of including de-identified data to look into Chondrosarcoma patient records and insurance claims to get a deeper understanding into services rendered and respective costs especially for those misdiagnosed.