Institution of an Italian Registry and Biobank for Biological Sample Collection

NCT06892964 | Recruiting

• 1 other identifier: 6221
• Study Type: interventional
• Target: 70
• Locations: 1 country
• Sites: 1

Brief Summary

Lymphatic malformations (ML), are benign non-neoplastic, rare, resulting from an embryologic abnormal development of the lymphatic system. Sometimes they may be associated with other vascular malformations (venous or arterial)1,2. ML usually appear at birth, in early childhood or during the first years of life (congenital vs. acquired) and are mainly localized in the region of the head and neck, armpits, groin, retroperitoneal tissues, tongue and mucous membranes of the oral cavity since these areas contain a plethora of lymphatic structures1. The main complications due to their location are airway obstruction, difficulty in eating, and bleeding3-5. Infection and bleeding can promote the sudden, progressive and accelerated growth of these lesions1. The location, speed of growth, and the subsequent complications associated with ML, determine the overall severity of the clinical picture and require generally the referral of the affected patient to a specialized center that can ensure a multidisciplinary care3,5. Recently, the International Society for the Study of Vascular Anomalies (ISSVA), has revised and updated the classification of such malformations, emphasizing the distinction between isolated forms and ML in the context of more complex syndromes with multisystem involvement2. Until a few years ago, the only treatment strategies available for ML were scleroembolization, cryotherapy, transcutaneous laser photocoagulation, and surgical resection of the malformation. The recent identification of genetic alterations in the phosphatidylinositol-3-kinase (PI3K)/protein kinase B (AKT)/target mammalian pathway of rapamycin (mTOR), which underlies many isolated and syndromic ML pictures6-9, has opened up important prospects for personalized treatment with repurposed drugs6,7,10-20. Over the years, the rarity and complexity of ML management have resulted in a fragmented nature of available information and poor nationwide sharing of diagnostic-clinical-assistance-therapeutic protocols (PDTAs) with the consequent need for many families to undertake multispecialty consultations in various provinces or regions before identifying a suitable Referral Center. In addition, recent acquisitions in genetics have forced specialists, a further reevaluation of those complex clinical pictures of ML, whether isolated or syndromic, that could be candidates for personalized drug treatments. The institution of a national Registry of pathology promoted by the Association of Patients with Lymphatic Malformations, which supports clinicians and families in filling unmet information and clinical care gaps, is a priority project in order to improve the quality of life of patients and the level of care offered to them. In addition, the establishment of a collection of biological specimens, processed according to high quality standards, within a Research Biobank provides the opportunity for patients and their families to maximize the visibility of the specimens, promoting their use in national and international research projects dedicated to ML, in compliance with ELSI (Ethical, Social, and Legal Issues) criteria. The study primary Objective is To create a computerized registry for ML that collects both retrospective and prospective data in order to estimate the incidence and prevalence of ML, in different phenotypes. As secondary objectives. (i) Establish a collection of biological specimens (Fresh and fixed biopsy tissue; DNA extracted from whole blood, saliva and where possible from biopsy tissue) within the FPG Research Biobank, intended for future research purposes and available to the entire scientific community; ii) Genetically profile patients who have never undergone molecular diagnostics or who have been tested with restricted panels of genes (PIK3CA, AKT, MTOR, PTEN, KRAS and BRAF) (activity performed on patients per clinical practice); (iii) Define the natural history of ML in different phenotypes and genotypes from prenatal to adult age; (iv) Evaluate the clinical outcomes of different treatments (e.g., experimental drug therapy, maxillofacial surgery, vascular surgery, laser therapy, sclerotherapy, compression therapy, etc.) and different modes of care (type and frequency of visits performed) in the short and long term; (v) Assess the impact of ML on the lives of patients and caregivers; (vi) Support the drafting/updating of national recommendations and standards of care; vii) to promote and facilitate the implementation of research projects dedicated to ML, fostering the advancement of scientific knowledge on this specific disease area;

Conditions

Lymphatic Malformation; Lymphatic Abnormality; Lymphangioma; Lymphatic Abnormalities

Outcome Measures

Primary Outcomes (1)

• Estimate the prevalence and incidence of ML in Italy

  Data collection derived from the computerized registry created for the study

  20 years

Secondary Outcomes (5)

• Institution of a biobank collecting biological samples of lymphatic malformations

  20 years

• Characterize potential genotype-phenotype associations

  20years

• Natural evolution of lymphatic malformations

  20years

• Evaluate the short and long-term (< or > 2 years) outcome of LM patients

  20years

• Evaluate quality of life status in this specific patient cohort

  20years

Study Arms (1)

Pstients with isolated lymphatic malformation

EXPERIMENTAL

Genetic profiling (targeted NGS panel) performed on affected tissue sample

Genetic: Genetic profiling of all eligible patients

Interventions

Genetic profiling of all eligible patients GENETIC

Performed genetic profiling in DNA extracted from fresh tissue or FFPE in all patients affected by lymphatic malformation recruited

Pstients with isolated lymphatic malformation

Eligibility Criteria

• Age: Up to 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Age 0-100 years
• Signed informed consent.
• Individuals with any type of ML (isolated, syndromic, congenital or acquired, with or without molecular confirmation) identified by participating centers

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (1)

Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS

Roma, 00168, Italy

RECRUITING

Related Publications (1)

• Trevisan V, De Corso E, Viscogliosi G, Onesimo R, Cina A, Panfili M, Perri L, Agazzi C, Giorgio V, Rigante D, Vento G, Papacci P, Paradiso FV, Silvaroli S, Nanni L, Resta N, Castori M, Galli J, Paludetti G, Zampino G, Leoni C. A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment. Orphanet J Rare Dis. 2024 Jul 23;19(1):276. doi: 10.1186/s13023-024-03200-2.

  PMID: 39044220 RESULT

MeSH Terms

Conditions

Lymphatic Abnormalities; Lymphangioma

Condition Hierarchy (Ancestors)

Lymphatic Diseases; Hemic and Lymphatic Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasm, Lymphatic Tissue; Neoplasms by Histologic Type; Neoplasms

Study Officials

• Chiara Leoni

  Fondazione Policlinico Universitario A. Gemelli, IRCCS

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Chiara Leoni, MD, PhD

CONTACT

00063381344; chiara.leoni@policlinicogemelli.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 18, 2025
• First Posted: March 25, 2025
• Study Start: June 27, 2024
• Primary Completion (Estimated): June 27, 2043
• Study Completion (Estimated): June 27, 2044
• Last Updated: March 25, 2025

Record last verified: 2024-07

Locations

IT (1)