Lymphatic Anomalies Registry for the Assessment of Outcome Data


Lymphatic anomalies are a rare subset of vascular anomalies that are poorly understood. the understanding of the natural history, long-term outcomes, risk factors for morbidity and mortality, and the relative benefit of medical therapies and procedures is limited.The goal of this project is to better understand these diseases and improve the care of theses rare patients. To do this, the investigators are conducting an observational study of patients with lymphatic anomalies, including an annual follow-up questionnaire to gather prospective data on mortality, morbidity, treatments, and functionality as well as quality of life.

Study Type

  • Study Type: Observational [Patient Registry]
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: June 2035

Detailed Description

The purpose of the Lymphatic Anomalies Registry, created at Boston Children's Hospital, is to create a database to help current and future patients diagnosed with a lymphatic anomaly. The ultimate goal of the registry is to better understand and predict responses to therapies and risk factors for complications. Although the Lymphatic Anomalies Registry exists at Boston Children's Hospital, patients can be entered into the registry regardless of whether or not they visit Boston Children's Hospital, thus increasing the program's accessibility. The Lymphatic Anomalies Registry includes patients who have vascular anomalies with a lymphatic component across various diagnoses. From the patient's perspective, participation in the Lymphatic Anomalies Registry means taking part in a short, thirty minute interview, and providing the registry with access to medical records. The interview is conducted verbally with study staff of the Lymphatic Anomalies Registry, and can take place either at the hospital, or over the phone. During the interview, the registry will inquire about the patient's diagnosis, disease features, medical therapies, and procedures. Interested prospective patients will receive an introductory packet from the registry with information on how to proceed in the registry process. All obtained patient information is housed on a secure, HIPPA compliant, internal database, managed by Boston Children's Hospital staff. Patient information entered into the external database is de-identified. The research teams will also obtain a medical record release form to request the patient's medical record for review in our study.

Clinical Trial Outcome Measures

Primary Measures

  • To characterize the heterogeneity of lymphatic disorders, including demographics, presentation, and complications.
    • Time Frame: 15 years
  • To identify factors that are prognostic of the occurrence of complications, including effusions, coagulopathy, ectatic draining veins, prior infections, visceral involvement, bone involvement, and development of cardiopulmonary symptoms.
    • Time Frame: 15 years
  • To identify factors prognostic of poor outcome and use them to develop “staging” of lymphatic anomalies.
    • Time Frame: 15 years
  • To describe the natural history of lymphatic anomalies, including morbidity and mortality.
    • Time Frame: 15 years
  • To describe the therapies (medical and procedural), adverse events and responses to therapy in patients with lymphatic anomalies.
    • Time Frame: 15 years
  • To pilot quality of life, functional assessment and pain scoring tools in this patient population.
    • Time Frame: 15 years

Secondary Measures

  • To estimate the proportion of time that patients with lymphatic anomalies have affected offspring.
    • Time Frame: 15 years
  • To assess for correlations of pregnancy complications or medications taken during pregnancy with the development of lymphatic anomalies.
    • Time Frame: 15 years

Participating in This Clinical Trial

Inclusion Criteria

  • Clinical diagnosis of complex vascular tumor, malformation or overgrowth syndrome with significant lymphatic component

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Boston Children’s Hospital
  • Collaborator
    • Lymphatic Malformation Institute
  • Provider of Information About this Clinical Study
    • Principal Investigator: Melisa Ruiz-Gutierrez, Attending Physician – Pediatric Hematology/Oncology – Boston Children’s Hospital
  • Overall Official(s)
    • Melisa Ruiz-Gutierrez, M.D., Principal Investigator, Boston Children’s Hospital
  • Overall Contact(s)
    • Parker Greiwe, BS, 617-355-6863,

Citations Reporting on Results

Croteau SE, Kozakewich HP, Perez-Atayde AR, Fishman SJ, Alomari AI, Chaudry G, Mulliken JB, Trenor CC 3rd. Kaposiform lymphangiomatosis: a distinct aggressive lymphatic anomaly. J Pediatr. 2014 Feb;164(2):383-8. doi: 10.1016/j.jpeds.2013.10.013. Epub 2013 Nov 16.

Rankin H, Zwicker K, Trenor CC 3rd. Caution is recommended prior to sildenafil use in vascular anomalies. Pediatr Blood Cancer. 2015 Nov;62(11):2015-7. doi: 10.1002/pbc.25600. Epub 2015 May 15.

Strychowsky JE, Rahbar R, O'Hare MJ, Irace AL, Padua H, Trenor CC 3rd. Sirolimus as treatment for 19 patients with refractory cervicofacial lymphatic malformation. Laryngoscope. 2018 Jan;128(1):269-276. doi: 10.1002/lary.26780. Epub 2017 Aug 7.

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