The primary aim of the Desmoid Tumor Research Foundation (DTRF) Patient Registry at DTRF.iamrare.org is to conduct a prospectively-planned and efficient natural history study (NHS) that will result in the most comprehensive understanding of the disease and its course and pace over time.
Registry objectives include the following:
- Provide a convenient online platform for participants (or caregivers) to self-report cases of desmoid tumors.
- Develop a communications registry within the DTRF Patient Registry (e.g., to notify patients of research studies and clinical trials).
- Characterize and describe the desmoid tumor patient population as a whole, enhancing the understanding of disease prevalence and phenotype as well as the rate of progression of disease characteristics.
- Assist the desmoid tumor patient community with the development of recommendations and standards of care.
- Be a case-finding resource for researchers who seek to study the pathophysiology of desmoid tumors, retrospectively collate intervention outcomes, and design prospective trials of novel treatments.
The NHS study benefits the desmoid tumor patient community through the development of recommendations and defining standards of care. The surveys help to define the course of disease by assessing quality of life (QoL), treatments, as well as socioeconomic information. Researchers will be able to use the data to study the pathophysiology of desmoid tumors, retrospectively collate intervention outcomes, and design prospective trials of novel treatments.
All patients of all ages with a confirmed diagnosis of desmoid tumor are eligible for inclusion in the Patient Registry and NHS.
Data Collection
The Patient Registry and NHS have been collecting data on the web-based platform since 2017. The NHS consists of surveys that were developed by the National Organization of Rare Disorders under the IAMRARE program. The NORD surveys encompass the following information: medical diagnostic data for rare diseases, treatment and review of systems for rare diseases, quality of life for adults for rare diseases, and quality of life for pediatrics for rare diseases.
The desmoid tumor surveys were developed in consultation with the study co-investigators, patients, and the Foundation leadership. The desmoid tumor surveys are: medical data, diagnostic data, treatments, monitoring, pregnancy, patient reported outcomes, physical activities, and other medical conditions. In 2023, the NHS was revised in collaboration with the DTRF Patient Advocacy Committee to include financial burden and caregiver burden surveys.
Collaborations
Participants in the DTRF Patient Registry can be informed of future research studies involving desmoid tumors for which they may be eligible. Certain participants may directly benefit from inclusion in future studies that result from the registry and for which separate informed consent will be obtained.
Contact
For inquiries related to the DTRF Patient Registry and Natural History Study, please contact our team.
Kelly Mercier, PhD,
Principal Investigator
Amanda Lucas,
Registry Administrator
Email: registry@dtrf.org
NHS Publications
The NHS has been publishing data on various topics from the study since 2019.
2025
ISPOR 2025
“An Assessment of Financial Burden and Its Association With Desmoid Tumor Specific Symptoms and Impact in Adult Patients With Desmoid Tumors: Desmoid Tumor Research Foundation Natural History Study”
Orphanet Journal of Rare Diseases
“The Impact of Desmoid Tumors: Insights from the Desmoid Tumor Research Foundation Natural History Study, 2017–2023”
ESMO 2025 Sarcoma and Rare Cancers Congress
The Association of Pain With Function for Adult Patients With Desmoid Tumor: Findings From the Desmoid Tumor Research Foundation Natural History Study
2024
ESMO 2024 Sarcoma and Rare Cancers Congress
Treatment Landscape for Desmoid Tumors: Desmoid Tumor Research Foundation Natural History Study
ESMO 2024 Sarcoma and Rare Cancers Congress
Impact of Desmoid Tumors on Patients’ Quality of Life: Desmoid Tumor Research Foundation Natural History Study
2023
CTOS 2023 Annual Meeting
Characterizing the Patient Journey to Diagnosis of Desmoid Tumor: Desmoid Tumor Research Foundation Natural History Study
2021
ASCO Annual Meeting
A patient reported outcomes of treatments for desmoid tumors: An international natural history study
ASCO Annual Meeting
A retrospective collection of diagnostic data from the Desmoid Tumor Research Foundation natural history study
CTOS Annual Meeting
Desmoid Tumor and Molecular Testing from Patient-Reported Data in an International Natural History Study
CTOS Annual Meeting
Patient-Reported Data of Desmoid Tumors During and After Pregnancy from an International Natural History Study
NORD Breakthrough Summit
The Desmoid Tumor Research Foundation Registry and Natural History Study: 5 Year status and update
2020
NORD Breakthrough Summit
An Update on Diagnostic Data from the Desmoid Tumor Research Foundation Natural History Study
NORD Breakthrough Summit
An update on Treatment Data from the Desmoid Tumor Research Foundation Natural History Study
2019
“The Power of Patients: Informing Our Understanding of Rare Diseases”
published in partnership with NORD and Trio Health. DTRF Natural History Study statistics were shown on gender, race, age at diagnosis, time from onset of symptoms to diagnosis, QOL and QOL by tumor location.
DTRF Regional Patient Meeting and Philadelphia Patient Meeting | NORD Breakthrough Summit
Misdiagnosis of Desmoid Tumors; Insight from the Desmoid Tumor Research Foundation (DTRF) Natural History Study
DTRF Regional Patient Meeting and Philadelphia Patient Meeting | NORD Breakthrough Summit
Quality of Life (QOL) and Tumor Location in Patients with Desmoid tumors: Data From the Desmoid Tumor Research Foundation (DTRF) Natural History Study
ASCO Annual Meeting
Quality of Life (QOL) and Tumor Location in Patients with Desmoid tumors: Data From the Desmoid Tumor Research Foundation (DTRF) Natural History Study
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