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Lymphatic Anomalies Registry for the Assessment of Outcome Data

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02399527
Recruitment Status : Recruiting
First Posted : March 26, 2015
Last Update Posted : April 6, 2021
Lymphatic Malformation Institute
Information provided by (Responsible Party):
Melisa Ruiz-Gutierrez, Boston Children's Hospital

Brief Summary:
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.

Condition or disease
Lymphatic Malformation Generalized Lymphatic Anomaly (GLA) Central Conducting Lymphatic Anomaly CLOVES Syndrome Gorham-Stout Disease ("Disappearing Bone Disease") Blue Rubber Bleb Nevus Syndrome Kaposiform Lymphangiomatosis Kaposiform Hemangioendothelioma/Tufted Angioma Klippel-Trenaunay Syndrome Lymphangiomatosis

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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 15 Years
Official Title: Lymphatic Anomalies Registry for the Assessment of Outcome Data
Actual Study Start Date : June 2013
Estimated Primary Completion Date : June 2035
Estimated Study Completion Date : June 2035

Primary Outcome Measures :
  1. To characterize the heterogeneity of lymphatic disorders, including demographics, presentation, and complications. [ Time Frame: 15 years ]
  2. 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 ]
  3. To identify factors prognostic of poor outcome and use them to develop "staging" of lymphatic anomalies. [ Time Frame: 15 years ]
  4. To describe the natural history of lymphatic anomalies, including morbidity and mortality. [ Time Frame: 15 years ]
  5. To describe the therapies (medical and procedural), adverse events and responses to therapy in patients with lymphatic anomalies. [ Time Frame: 15 years ]
  6. To pilot quality of life, functional assessment and pain scoring tools in this patient population. [ Time Frame: 15 years ]

Secondary Outcome Measures :
  1. To estimate the proportion of time that patients with lymphatic anomalies have affected offspring. [ Time Frame: 15 years ]
  2. To assess for correlations of pregnancy complications or medications taken during pregnancy with the development of lymphatic anomalies. [ Time Frame: 15 years ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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

Inclusion Criteria:

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02399527

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Contact: Parker Greiwe, BS 617-355-6863
Contact: Meghan O'Hare, CPNP 617-355-5226

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United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Meghan O'Hare, CPNP    617-355-5226   
Contact: Parker Greiwe    617-355-5226   
Principal Investigator: Melisa Ruiz-Gutierrez, M.D.         
Sponsors and Collaborators
Boston Children's Hospital
Lymphatic Malformation Institute
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Principal Investigator: Melisa Ruiz-Gutierrez, M.D. Boston Children's Hospital
Additional Information:
Publications of Results:
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Responsible Party: Melisa Ruiz-Gutierrez, Attending Physician - Pediatric Hematology/Oncology, Boston Children's Hospital Identifier: NCT02399527    
Other Study ID Numbers: P00007182
First Posted: March 26, 2015    Key Record Dates
Last Update Posted: April 6, 2021
Last Verified: April 2021
Keywords provided by Melisa Ruiz-Gutierrez, Boston Children's Hospital:
Vascular Anomalies
Lymphatic Anomalies
Lymphatic Malformation
Additional relevant MeSH terms:
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Bone Diseases
Osteolysis, Essential
Klippel-Trenaunay-Weber Syndrome
Lymphatic Abnormalities
Congenital Abnormalities
Pathologic Processes
Musculoskeletal Diseases
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type
Lymphatic Vessel Tumors
Lymphatic Diseases
Neoplasms, Connective and Soft Tissue
Perivascular Epithelioid Cell Neoplasms
Lymphoproliferative Disorders
Immunoproliferative Disorders
Immune System Diseases
Vascular Diseases
Cardiovascular Diseases
Bone Diseases, Developmental
Bone Resorption