A retrospective collection of diagnostic data from the desmoid tumor research foundation natural history study.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e23549-e23549
Author(s):  
Amanda Lucas ◽  
Danielle Braggio ◽  
Lynne Hernandez ◽  
Kelly Mercier
Keyword(s):  
Genetic Testing ◽  
Natural History ◽  
Chest Wall ◽  
Desmoid Tumor ◽  
The United States ◽  
Desmoid Tumors ◽  
Primary Method ◽  
Natural History Study ◽  
Diagnostic Data ◽  
Tumor Research

e23549 Background: Desmoid tumors are a benign sarcoma diagnosed in 4-5 patients per million each year. The Desmoid Tumor Research Foundation (DTRF) launched the patient registry and natural history study (NHS) in 2017. This is a retrospective analysis of diagnostic data collected, tumor location, rates of misdiagnosis, how genetics testing is being incorporated into clinical practice, and additional clinical trial participation. Methods: The NHS launched September 2017 and contains 15 surveys covering diagnostics, disease, treatment, care management, and quality of life. Current reporting as of December 31, 2020, contains 619 participants or legally authorized representatives for which a subset have completed the surveys on desmoid tumor diagnoses. Results: Survey analysis documents that the most prevalent tumor locations were intra-abdominal 35.5% (220), joint / extremities 21.2% (131), and chest wall 14.7% (91). The majority of participants, 68.2%, reported that they had unifocal tumors (199/292), 19.5% reported that they had multifocal desmoid tumors (57). Biopsy procedures were the primary method of diagnosis according to 57.2% (167/292) of the participants, with needle biopsy comprising 19.8% (33/167). Biopsy as the primary method of diagnosis was most prevalent in tumors of the head and neck (18/26, 69.2%), chest wall (32/47, 68.1%) joint /extremities (50/90, 55.6%), and abdominal tumors (27/51, 52.9%). Additionally, imaging methods (CT, MRI) were the primary method of diagnosis in 22.6% (66/292) and surgical resection 14.4% (42/292). Misdiagnosis is common for this tumor type, as 41.0% (119/290) participants reported an incorrect initial diagnosis. The reported incorrect diagnoses are described in the table. Genetic testing is not standard of care for desmoid tumors but is increasing in practice. A total of 78 participants (28%) of 282 participants report they had genetic testing (germline or somatic) of their tumor tissue. The majority of those participants, 65.4% (51/78), reported having Familial Adenomatous Polyposis (FAP). Of the participants that had genetic testing, 89.0% live in the United States. 10.5% of participants (37/353) have reported having participated in clinical trials. The majority of participants (317/368, 86.1%) are willing to participate in other studies in the future, with 77.4% (285/368) willing to donate specimens for biomarker studies. Conclusions: Participants with desmoid tumors report many methods of diagnosis for their diverse tumor locations, high rates of misdiagnosis, and increased rates of genetic mutation testing. Data collection through the DTRF NHS is ongoing.[Table: see text]

A patient reported outcomes of treatments for desmoid tumors: An international natural history study.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 11560-11560
Author(s):  
Danielle Braggio ◽  
Amanda Lucas ◽  
Lynne Hernandez ◽  
Kelly Mercier
Keyword(s):  
Natural History ◽  
Active Surveillance ◽  
Desmoid Tumor ◽  
Patient Reported Outcomes ◽  
The United States ◽  
Desmoid Tumors ◽  
Targeted Agents ◽  
Natural History Study ◽  
Systemic Treatments ◽  
Patient Reported

11560 Background: The Desmoid Tumor Research Foundation (DTRF) launched the natural history study (NHS) in 2017. At this time, there are no standard-of-care options for this rare sarcoma. The treatments, clinical descriptors, and the patient reported outcomes to pharmacologic agents are described here within. Methods: The web-based natural history study launched September 2017 in collaboration with the National Organization of Rare Disorders. It contains 15 surveys covering diagnostics, disease, treatment, care management, and quality of life. Treatment types included in the DTRF NHS were pharmacology, surgery, radiation, high-intensity focused ultrasound (HiFU), and active surveillance (watch and wait). Results: While surgery was once the primary intervention for desmoid tumor patients, the NHS participants reported that 47.6% had received active surveillance or no systemic treatment at diagnosis. This is most common for desmoid tumors located in abdominal wall (54/103; 52.4%). There were 87 reported cases of complete surgical resection, 38 incomplete resections, and 23 bowel resections. 9 amputations were reported; 8 participants reported recurrent disease following the removal of the limb. The non-surgical interventions, such as radiation and HiFU, were mostly described for participants with chest wall tumors (15 pts) and joints/extremities (10 pts). Many options for systemic therapies were described including sorafenib (44/284; 15.5%), sulindac (36/284; 12.7%), and anti-hormonal agents tamoxifen and toremifene (34/285; 10.9%) were described. Targeted agents, such as gamma secretase inhibitor, pazopanib, and sorafenib, were greater in the United States than the non-US country participants (21% vs 9%). Multiple lines of treatments were reported by 81 participants, surgery is greatest as the first intervention for all tumor locations (49/81, 60%), with the exception of those with head/neck tumors who received chemotherapy (6/11, 55%). Analysis has started to evaluate the efficacy of systemic treatments from these NHS data. The table describes the participant reported outcomes of anti-hormonal agents, chemotherapeutics, non-steroidal anti-inflammatories, and targeted agents. Both chemotherapies and targeted agents were reported to have 38.1% response rates from the participants with 34.3% and 23.8% of participants reported progressive disease on therapy, respectively. Conclusions: Desmoid tumor NHS study participants reported the use of many treatment modalities demonstrating a range of frequency of use by tumor location and efficacy. Data collection through the DTRF NHS is ongoing.[Table: see text]

scholarly journals The initiation, design, and establishment of the Desmoid Tumor Research Foundation Patient Registry and Natural History Study

Rare Tumors ◽  
2019 ◽  
Vol 11 ◽  
pp. 203636131988097
Author(s):  
Kelly A Mercier ◽  
Darragh M Walsh
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Desmoid Tumor ◽  
Disease Monitoring ◽  
Desmoid Tumors ◽  
Rare Disorders ◽  
Natural History Study ◽  
National Organization ◽  
Tumor Research

Desmoid tumors are locally invasive sarcoma, affecting 5–6 individuals out of 1,000,000 per year. The desmoid tumors have high rates of recurrence after resection and can lead to significant deterioration of the quality of life of patients. There is a need for a better understanding of the desmoid tumors’ patient experience from first symptoms through diagnosis, disease monitoring, and clinical treatment options. With the National Organization of Rare Disorders, the Desmoid Tumor Research Foundation Natural History Study was designed to be collected through the registry. This article describes the protocol for the Desmoid Tumor Research Foundation Natural History Study and some initial findings. The Desmoid Tumor Research Foundation Natural History Study Advisory Committee developed a series of questionnaires and longitudinal surveys, in addition to those from the National Organization of Rare Disorders for all of the rare diseases. These 13 surveys are designed to uncover initial symptoms, diagnosis process, disease monitoring, quality of life, treatments, as well as socioeconomic information. Since launching the Desmoid Tumor Research Foundation Registry and Natural History Study ( https://dtrf.iamrare.org ), more than 300 desmoid tumor patients have consented to the Desmoid Tumor Research Foundation Natural History Study and completed the Participant Profile. The majority of the respondents are between the ages of 21 and 50 years (76%), female (81.2%), White (91.5%), and live in the United States (47.1%). The majority of tumors are in the lower or upper extremity, (22.9%) followed closely by abdominal desmoid tumors (21.5%). Most are willing to donate specimens (89.9%) and participate in trials (97.2%). Ongoing efforts are addressing the demographic differences between the respondents and non-respondents and any selection bias based on access to the registry and study. The Desmoid Tumor Research Foundation Natural History Study is built on the largest desmoid tumors registry and has recruited more desmoid tumors participants since launching in September 2017. It will serve to fill desmoid tumors knowledge gaps and assist other researchers in their recruitment efforts for additional studies.

Quality of life and tumor location in patients with desmoid tumors: Data from the desmoid tumor research foundation natural history study.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e18291-e18291
Author(s):  
Kelly A Mercier ◽  
Lynne Hernandez ◽  
Vanessa Boulanger ◽  
Allison Seebald ◽  
Suzanne Rossov ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Data Collection ◽  
Tumor Location ◽  
Desmoid Tumors ◽  
Treatment Development ◽  
Natural History Study ◽  
Patient Demographics ◽  
Tumor Research

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]

scholarly journals 336. Disparities in Cardiovascular Disease Prevention Among Persons Living with HIV in the United States Military Natural History Study

2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S178-S179
Author(s):  
Derek Thomas Larson ◽  
Seunghyun Won ◽  
Robert G Deiss ◽  
Anuradha Ganesan ◽  
Ryan Maves ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
African American ◽  
Drug Use ◽  
Natural History ◽  
Racial Differences ◽  
Tobacco Use ◽  
The United States ◽  
Atherosclerotic Cardiovascular Disease ◽  
Natural History Study ◽  
Persons Living With Hiv

Abstract Background The use of antiretroviral therapy has reduced morbidity and mortality associated with HIV infection primarily due to the reduction of AIDS-related events. Although guidelines have aimed to standardize preventive care, disparities in prevention of cardiovascular disease remain prevalent across multiple cohorts. Methods The US Military HIV Natural History Study is an open cohort of Department of Defense beneficiaries. We included subjects aged 21–75 whose most recent study visit was between October 2015 and September 2016 and conducted a retrospective cross-sectional analysis of established cardiovascular disease risk factors and statin use. To determine statin eligibility we used the American College of Cardiology/American Heart Association 2013 atherosclerotic cardiovascular disease management guidelines and included subjects who had all necessary data elements for analysis. Results The participants (n = 1223) were predominantly middle-aged (median 47 years, Interquartile Range [IQR] 33–55), male (95%), and were racially diverse (46% African-American, 16% Hispanic/other). The rate of tobacco use was 16%, diabetes was 11%, and 36% had hypertension. In total, 486 (40%) patients met criteria for statin therapy, with 17% of those being for secondary prevention. As of their last visit, 52 (4%) had a detectable HIV viral load. Statins were prescribed to only 302 (62%) of those with an indication, with lower prescription rates in African Americans (52%) and Hispanics (58%) than Caucasians (73%). Average blood pressure, rates of tobacco use, and prevalence of diabetes were equal between the African American and Caucasian groups. Conclusion We found significant racial disparities in both primary and secondary cardiovascular disease mitigation within the military healthcare system. Previous studies have found similar racial differences attributed to socioeconomic factors and higher rates of intravenous drug use. As active duty service members have a stable income, open access to healthcare, and low rates of injection drug use, our findings challenge that premise. Understanding whether this is due to prescribing practices, physician-patient relationships, or healthcare uptake is critical to narrowing this major gap in care. Disclosures All authors: No reported disclosures.

scholarly journals Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

2021 ◽  
Author(s):  
Julie E. Hoover-Fong ◽  
Adekemi Y. Alade ◽  
S. Shahrukh Hashmi ◽  
Jacqueline T. Hecht ◽  
Janet M. Legare ◽  
...  
Keyword(s):  
Natural History ◽  
Medical Information ◽  
De Novo ◽  
Reference Population ◽  
The United States ◽  
Natural History Study ◽  
Surgical Interventions ◽  
Adverse Health Outcomes ◽  
University Of Wisconsin ◽  
Johns Hopkins University

Abstract Purpose Achondroplasia is the most common short stature skeletal dysplasia (1:20,000–30,000), but the risk of adverse health outcomes from cardiovascular diseases, pain, poor function, excess weight, and sleep apnea is unclear. A multicenter retrospective natural history study was conducted to understand medical and surgical practices in achondroplasia. Methods Data from patients with achondroplasia evaluated by clinical geneticists at Johns Hopkins University, A.I. duPont Hospital for Children, McGovern Medical School UTHealth, and University of Wisconsin were populated into a REDCap database. All available retrospective medical records of anthropometry (length/height, weight, occipitofrontal circumference), surgery, polysomnography (PSG), and imaging (e.g., X-ray, magnetic resonance imaging) were included. Results Data from 1,374 patients (48.8% female; mean age 15.4 ± 13.9 years) constitute the primary achondroplasia cohort (PAC) with 496 subjects remaining clinically active and eligible for prospective studies. Within the PAC, 76.0% had a de novo FGFR3 pathologic variant and 1,094 (79.6%) had one or more achondroplasia-related surgeries. There are ≥37,000 anthropometry values, 1,631 PSGs and 10,727 imaging studies. Conclusion This is the largest multicenter achondroplasia natural history study, providing a vast array of medical information for use in caring for these patients. This well-phenotyped cohort is a reference population against which future medical and surgical interventions can be compared.

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