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NCT Number: NCT02867033

National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis (ALTITUDES)

The purpose of this study is to constitute the French largest Aggressive fibromatosis cohort.

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This study is active but is not currently recruiting participants.

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Key information

Conditions

Aggressive Fibromatosis Desmoid Tumors Fibroma Neoplasms Neoplasms by Histologic Type Neoplasms, Connective Tissue Neoplasms, Connective and Soft Tissue Neoplasms, Fibrous Tissue

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHU Angers, Angers, France

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About this study

Aggressive fibromatosis (AF) is a rare non-metastasizing connective tissue tumor (< 300 cases/year in France), associated with high risk of local relapse, functional impairment and pain. AF can occur at any age, but most commonly between 25 and 40 with a significant female predominance. AF is most frequently (about 85%) sporadic and then associated with a somatic mutation of the CTNNB1 gene. AF is associated with heredity condition, as complication of familial adenomatous polyposis (with germinal mutation of Adenomatous polyposis coli (APC) gene). Most of AF arises on lims or abdominal wall. Nevertheless, some particular locations are life-threatening (mesenteric or cervical locations). The natural course of AF is unpredictable. One third of tumors are spontaneously stable. One third of tumor spontaneously decreases. One third of tumor is progressive, with a non-linear tumor growth dynamic. As the consequence the decision making for starting curative intent treatment is difficult, since some treatment could be mutilating (large en bloc surgery) or associated with late and severe complications (radiotherapy) and since these treatments could fail to control this benign tumor. Therapeutic options are: wait-and-see policy, surgery (sometimes mutilating), radiotherapy or systemic treatment (non-steroidal anti-inflammatory drugs, hormonotherapy, imatinib, chemotherapy). Level of evidence associated these options is very low, based on retrospective studies and rare non-randomized phase II clinical trials.

Regarding these uncertainties, physicians can hardly answer to patient questions.

Prospective data provided by a large multi-center cohort is needed. The objective of the present study is to create a large cohort of incident cases of AF associated with tumor bank and collection of blood samples.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Incident Case of aggressive fibromatosis in France, diagnosed after 01/01/2016
  • Confirmed diagnosis by the French anatomopathological diagnosis network (including search for mutation of the β-Catenin Gene, CTNNB1)
  • Affiliation to the National Health System
  • Informed consent signed (both parents signature for non adult patients)

Exclusion criteria

  • Administrative or legal measure of liberty privation
  • Patient not able to give consent or unwilling to provide consent

Treatment and study plan

Biopsy

Procedure

pre-therapeutic or post-therapeutic biopsy or resected tissues

biobank constitution

Other

Constitution of a biobank with pre-therapeutic or post-therapeutic biopsy or resected tissues

Coloscopy

Procedure

For adult patients, a coloscopy with chromoscopy of ascending and sigmoid colon will be performed

Blood sampling (facultative)

Procedure

Blood sample can be collected at diagnostic or after medically significant events (progressive disease, local or systemic treatment, pregnancy...)

Pain evaluation

Other

Pain evaluation (EVA scale), anxiety (HADS questionnaire), quality of life questionnaire (EORTC-QLQ-C30)

Tumor biobank realization

Procedure

Realization of a tumor biobank is part of classical procedure of participating centers

Primary outcomes

  1. Incident cases of aggressive fibromatosis, diagnosed after 01/01/2016 in France

    Time frame: through study completion, an average of 5 years

    To constitute, at a national level, the largest cohort of incident cases of desmoid tumours

Secondary outcomes

  1. Number of Aggressive Fibromatosis associated with familial adenomatous polyposis

    Time frame: through study completion, an average of 5 years

    To describe and analyse the link between Aggressive Fibromatosis and familial adenomatous polyposis

  2. Percentage of CTNNB1 mutation in non-selected cases of Aggressive Fibromatosis

    Time frame: through study completion, an average of 5 years

    To describe the proportion of AF cases characterized by CTNNB1 somatic mutation

  3. Management of AF

    Time frame: through study completion, an average of 5 years

    Description of the management of AF. Study of prognosis factor for progressive disease and death. Study of tumor response to treatments (Best response and progression-free survival) according to RECIST 1.1.

  4. Hospital Anxiety and Depression Scale (HADS)

    Time frame: at baseline, one year

    To describe the psychological impact of the disease at diagnosis and a year after diagnosis. And to compare changes between the time of diagnosis and one year after the treatments used.

  5. Quality of Life Questionnaire (QLQC30)

    Time frame: at baseline, one year

    To describe the consequences of the disease on the quality of life at diagnosis and a year after diagnosis. And to compare changes between the time of diagnosis and one year after the treatments used.

  6. Impact of pregnancy and hormonal exposure

    Time frame: Through study completion, an average of 5 years

    To study the impact of pregnancy and hormonal exposure on the evolution of the disease according to recurrence/progression rates

  7. Incidence of polyposis and colorectal cancer

    Time frame: Through study completion, an average of 5 years

    Rate of polyposis and colorectal cancer in the AF population

  8. Pain

    Time frame: Through study completion, an average of 5 years

    Pain according to Numeric Pain Scale, assessed at baseline and then at each annual follow-up.

Other outcomes

  1. Mutation rate of APC

    Time frame: through study completion, an average of 5 years

    To determine the mutation rate of APC at constitutional and somatic levels

  2. Mutation rate of CTNNB1

    Time frame: through study completion, an average of 5 years

    To determine the mutation rate of CTNNB1 at constitutional and somatic levels

  3. Correlation between APC and CTNNB1 mutations rates

    Time frame: through study completion, an average of 5 years

    To demonstrate that APC and CTNNB1 mutations are two mutually exclusive molecular alterations

  4. APC mutation rate

    Time frame: through study completion, an average of 5 years

    To correlate mutational somatic and constitutional rate of APC gene

  5. Occurrence of other mutations

    Time frame: through study completion, an average of 5 years

    To search other molecular anomalies for patients without APC or CTNNB1 mutations (10 % of cases)

  6. Cell free (circulating) nucleic acid extraction technics

    Time frame: through study completion, an average of 5 years

    To determine sensibility and specificity of cell free (circulating) nucleic acid extraction techniques

  7. AF outcome

    Time frame: through study completion, an average of 5 years

    To describe patient outcomes and identify prognostic factors

  8. Treatment response

    Time frame: through study completion, an average of 5 years

    To search for factors involved in response treatment prediction

Sponsors and collaborators

Lead sponsor

Centre Oscar Lambret

Other

Collaborators

  • APICIL funding
  • GIRCI NO
  • Groupement Interrégional de Recherche Clinique et d'Innovation
  • Hôpital de la Timone
  • Institut Curie
  • Ligue contre le cancer, France
  • SOS Desmoid e.V.
  • UNICANCER

Registry information

Official study title

National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis

Acronym: ALTITUDES

Important dates

Study start
2016
Primary completion
2030
Study completion
2030
First posted
Aug 15, 2016
Registry last updated
Mar 30, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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