Lymphatic Anomalies Registry for the Assessment of Outcome Data

NCT02399527 | Recruiting

• 1 other identifier: P00007182
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Vascular Anomalies; Lymphatic Anomalies; Lymphatic Malformation

Outcome Measures

Primary Outcomes (6)

• 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 Outcomes (2)

• 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

Eligibility Criteria

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

You may qualify if:

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

Sponsors & Collaborators

• Boston Children's Hospital: lead
• Lymphatic Malformation Institute: collaborator

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Related Publications (3)

• 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.

  PMID: 25982365 BACKGROUND

• 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.

  PMID: 24252784 RESULT

• 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.

  PMID: 28782106 RESULT

Related Links

• Lymphatic Anomalies Registry Study Info

MeSH Terms

Conditions

Lymphatic Abnormalities; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Osteolysis, Essential; Blue rubber bleb nevus syndrome; Kaposiform Hemangioendothelioma; Tufted angioma; Klippel-Trenaunay-Weber Syndrome; Vascular Malformations

Condition Hierarchy (Ancestors)

Lymphatic Diseases; Hemic and Lymphatic Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Osteolysis; Bone Resorption; Angiomatosis; Vascular Diseases; Cardiovascular Diseases; Cardiovascular Abnormalities

Study Officials

• Melisa Ruiz-Gutierrez, M.D.

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Kelsey Deemer, BS

CONTACT

617-355-5226; Lymphaticregistry@childrens.harvard.edu

Meghan O'Hare, CPNP

CONTACT

617-355-5226; Lymphaticregistry@childrens.harvard.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 15 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Attending Physician - Pediatric Hematology/Oncology

Study Record Dates

• First Submitted: March 17, 2015
• First Posted: March 26, 2015
• Study Start: June 1, 2013
• Primary Completion (Estimated): June 1, 2035
• Study Completion (Estimated): June 1, 2035
• Last Updated: April 24, 2026

Record last verified: 2026-04

Locations

US (1)