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 Overview

• Status: Recruiting
• Conditions: Lymphangiomatosis; Kaposiform Lymphangiomatosis; Lymphatic Malformation; Generalized Lymphatic Anomaly (GLA); Central Conducting Lymphatic Anomaly; CLOVES Syndrome; Gorham-Stout Disease ("Disappearing Bone Disease"); Blue Rubber Bleb Nevus Syndrome; Kaposiform Hemangioendothelioma/Tufted Angioma; Klippel-Trenaunay Syndrome

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.

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Meghan O'Hare, CPNP; Phone Number: 617-355-5226; Email: Lymphaticregistry@childrens.harvard.edu
• Study Contact Backup: Name: Kelsey Deemer, BS; Phone Number: 617-355-5226; Email: Lymphaticregistry@childrens.harvard.edu

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Recruiting
      • Boston Children's Hospital
      • Contact: Meghan O'Hare, CPNP; Phone Number: 617-355-5226; Email: Lymphaticregistry@childrens.harvard.edu
      • Principal Investigator: Melisa Ruiz-Gutierrez, M.D.
      • Contact: Kelsey Deemer; Phone Number: 617-355-5226; Email: Lymphaticregistry@childrens.harvard.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Both domestic and international patients with complex lymphatic anomalies, as described above, are eligible to participate. Travel to Boston is not required for participation. Eligible patients are identified through active referral in the Vascular Anomalies Center at Boston Children's Hospital. Physicians and patients may also refer eligible patients directly to the Lymphatic Anomalies Registry. Patients may indicate interest in participation themselves by contacting the registry team through the "Contact Us" link on www.lymphaticregistry.org.

Description

Inclusion Criteria:

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
To characterize the heterogeneity of lymphatic disorders, including demographics, presentation, and complications.	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.	15 years
To identify factors prognostic of poor outcome and use them to develop "staging" of lymphatic anomalies.	15 years
To describe the natural history of lymphatic anomalies, including morbidity and mortality.	15 years
To describe the therapies (medical and procedural), adverse events and responses to therapy in patients with lymphatic anomalies.	15 years
To pilot quality of life, functional assessment and pain scoring tools in this patient population.	15 years

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Boston Children's Hospital
• Collaborators: Lymphatic Malformation Institute
• Investigators: Principal Investigator: Melisa Ruiz-Gutierrez, M.D., Boston Children's Hospital

Publications and helpful links

General Publications

• 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.
• 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.
• 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.

Helpful Links

• Lymphatic Anomalies Registry Study Info

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2013
• Primary Completion (Estimated): June 1, 2035
• Study Completion (Estimated): June 1, 2035

Study Registration Dates

• First Submitted: March 17, 2015
• First Submitted That Met QC Criteria: March 21, 2015
• First Posted (Estimated): March 26, 2015

Study Record Updates

• Last Update Posted (Actual): April 24, 2026
• Last Update Submitted That Met QC Criteria: April 21, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: Lymphatic Malformation; Vascular Anomalies; Lymphatic Anomalies
• Additional Relevant MeSH Terms: Bone Resorption; Bone Diseases; Musculoskeletal Diseases; Vascular Diseases; Cardiovascular Diseases; Lymphatic Diseases; Congenital Abnormalities; Cardiovascular Abnormalities; Bone Diseases, Developmental; Angiomatosis; Osteolysis; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Vascular Malformations; Lymphatic Abnormalities; Osteolysis, Essential; Klippel-Trenaunay-Weber Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Kaposiform Hemangioendothelioma; Tufted angioma; Blue rubber bleb nevus syndrome
• Other Study ID Numbers: P00007182

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No