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]

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]

Impact of acute hepatic porphyrias on quality of life and work loss: An analysis of EXPLORE natural history study

2018 ◽  
Vol 68 ◽  
pp. S622
Author(s):  
L. Gouya ◽  
M. Balwani ◽  
D.M. Bissell ◽  
D. Rees ◽  
U. Stölzel ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Work Loss ◽  
Natural History Study

Path to Diagnosis of Paroxysmal Nocturnal Hemoglobinuria: The Results of an Exploratory Study Conducted By the Aplastic Anemia and Myelodysplastic Syndrome International Foundation and the National Organization for Rare Disorders Utilizing an Internet-Based Survey

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 3264-3264
Author(s):  
Jamile M. Shammo ◽  
Rachel L Mitchell ◽  
Kylene Ogborn ◽  
Ellen Salkeld ◽  
Stephanie Chisolm
Keyword(s):  
Quality Of Life ◽  
Abdominal Pain ◽  
Aplastic Anemia ◽  
Paroxysmal Nocturnal Hemoglobinuria ◽  
Healthcare Providers ◽  
Signs And Symptoms ◽  
Rare Disorders ◽  
National Organization ◽  
Time To Diagnosis

Abstract Introduction: Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare bone marrow failure disorder characterized by thrombosis and chronic intravascular hemolysis. Symptoms commonly associated with PNH include headaches, fatigue, weakness and back and abdominal pain. PNH has an adverse impact on patient's mortality and quality of life. Little research has been performed to understand and delineate the patients' experiences from onset of symptoms to diagnosis and very few reputable websites are available as resources for both healthcare providers and patients. The purpose of this study was to elucidate the patients' path leading up to diagnosis and impact on quality of life surrounding the diagnosis of PNH in collaboration with the Aplastic Anemia and Myelodysplastic International Foundation (AA&MDSIF) and the National Organization for Rare Disorders (NORD) by utilizing an internet-based survey. Methods: The authors initially conducted an open-ended qualitative interview with 12 patients covering topics including history of symptoms, journey through the health care system, experience at diagnosis and strategies for coping with the disease. Utilizing ATLAS.ti software for data management and text searching interview data, the authors identified the most prominent topics for use in creating a 32 question survey representative of key issues related to the path to diagnosis. The survey was distributed to 1066 patients and families identified as having PNH from the databases of the AA&MDSIF and NORD. Results: In total, 163 patients with PNH responded to the survey during a one month period. Patients' age ranged from 13-85 years of age. Of those reporting gender (n=158), 70% (110) were female and 30% (48) were male. Patients reported a wide range of symptoms prior to diagnosis and the most common were fatigue (88%), weakness (73%), dyspnea (66%), hemoglobinuria (61%), headaches (59%), bruising or bleeding (58%), back pain (53%) and abdominal pain (52%) (Figure 1). While the average time to diagnosis was reported to be less than 2 years, patients reported a very broad range. Thirty-eight percent (38%) of diagnoses were made within 1 year of symptom onset whereas 24% took between 1-2 years. Thirty-seven percent (37%) reported time to diagnosis greater than 2 years and 24% greater than 5 years. Patients were evaluated by multiple healthcare providers on the path to diagnosis. Seventy-nine percent (79%) of patients reported consulting greater than 1 physician prior to PNH diagnosis; 31% of those patients saw 2 physicians whereas nearly 38% indicated they saw 5 or more physicians prior to diagnosis (Table 1). Interestingly, 82% of patients reported researching PNH online. Patients reported accessing multiple resources they felt were valuable including AA&MDSIF, Paroxysmal Nocturnal Hemoglobinuria Foundation, NORD, Alexion/eculizumab, Mayo Clinic and National Institutes of Health. Conclusion: This study was designed to explore pre-diagnosis symptoms and characteristics of patient interface with the healthcare system during the process of diagnosis. The average length of time to diagnosis was less than 2 years but the course remained taxing with multiple physicians consulted along the way. Despite reputable resources being utilized, many patients received outdated information regarding their diagnosis. Raising awareness of symptoms of PNH and approach to diagnosis is important in shortening time to diagnosis and reducing distress associated with the process. Improved resources post-diagnosis as well as increased awareness and understanding of symptomatology may lead to quicker diagnosis in patients with PNH. This study was not designed to capture adverse outcomes related to delayed diagnosis except for impact on patient-reported quality of life however, more research is needed in this area. Table 1. Order of physicians consulted prior to diagnosis MD n 1st 2nd 3rd 4th 5th Never Cardiologist 114 4 (4%) 3 (3%) 4 (4%) 3 (3%) 5 (5%) 95 (83%) ER MD 124 24 (19%) 27 (22%) 3 (2%) 3 (2%) 5 (2%) 52 (42%) Hematologist 150 19 (13%) 50 (33%) 42 (28%) 17 (11%) 12 (8%) 10 (6%) Nephrologist 102 2 (2%) 7 (7%) 7 (7%) 7 (7%) 3 (3%) 76 (74%) Neurologist 99 0 (0%) 4 (4%) 4 (4%) 2 (2%) 5 (5%) 84 (85%) OB/GYN 82 11 (13%) 10 (12%) 5 (6%) 1 (1%) 1 (1%) 53 (66%) PCP 148 90 (61%) 18 (12%) 4 (3%) 4 (3%) 5 (4%) 19 (13%) Figure 1. Signs and symptoms experienced by patients leading up to diagnosis of PNH. Figure 1. Signs and symptoms experienced by patients leading up to diagnosis of PNH. Disclosures Shammo: Onconova: Research Funding.

scholarly journals The natural history of greater trochanteric pain syndrome: an 11-year follow-up study

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Luke Bicket ◽  
Julie Cooke ◽  
Isaac Knott ◽  
Angie Fearon
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Pain Syndrome ◽  
Harris Hip Score ◽  
Greater Trochanteric Pain Syndrome ◽  
Natural History Study ◽  
Modified Harris Hip Score

Abstract Background Greater trochanteric pain syndrome (GTPS) is a musculoskeletal condition which can cause disability and reduce quality of life. However, limited evidence is available on the long-term outcomes of people with GTPS. Our aims were to determine the long-term prevalence of GTPS; to calculate the proportion of people with GTPS who had developed hip osteoarthritis (OA); and to determine the level of function and quality of life, 11-years after initial GTPS diagnosis. Methods A prospective 11-year natural history study. Two groups [GTPS group (n = 24), asymptomatic control (ASC) group (n = 20)] were evaluated at baseline, 12-months and 11-years. At 11-years all participants completed the modified Harris Hip Score (mHHS), Oswestry Disability Index (ODI) and Assessment of Quality-of-Life questionnaire. At 11-year follow-up 20/24 GTPS and 19/20 ASC participants were clinically assessed for GTPS and hip OA, completed the 10 metre-walk-test, timed up and go, and hip abduction and external rotation strength testing. Results At 11-year follow-up 45.0% of GTPS participants had GTPS compared to 5.3% of ASC participants (p = 0.008), OR [95% CI]: 10.19 [1.95, 104.3], and 35.0% of GTPS participants were clinically diagnosed with hip OA compared to none of the ASC participants (p = 0.002), OR [95% CI]: 21.6, [2.3, 2898.0]. GTPS participants reported more pain and disability than ASC participants via the ODI, mean difference [95% CI]: 6.1 [0.7, 11.6] but not the modified Harris Hip Score, mean difference [95% CI]: -3.3 [-10.3, 3.7]. Both groups had similar levels of quality of life and measures of function. Conclusions GTPS is a chronic condition: people with GTPS at baseline had twice the odds of being clinically diagnosed with GTPS or hip OA than the control group at 11-years. Further, there appears to be a temporal relationship between GTPS and the development of hip OA. This finding highlights the need to identify effective treatments that address the underlying impairments associated with GTPS. Pain and function results varied depending on the assessment tools used. Between group differences in quality of life seen at baseline are not found at the 11-year follow-up. The small sample size means the results must be considered with caution. Level of Evidence Level II Natural history Study.

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