Awarded Grants

Awarded Grants

MDBR, CLA, LGDALMI Million Dollar Bike Ride MDBR, CLA, LGDALMI Million Dollar Bike Ride

Identifying Unmet Care and Communication Needs of Families Affected by Complex Lymphatic Anomalies

Bryan Sisk

Washington University School of Medicine

$53,460

Awardee: Bryan Sisk

Institution: Washington University School of Medicine

Grant Amount: $53,460

Funding Period: February 1, 2022 - January 31, 2023

Summary:

Complex lymphatic anomalies (CLAs) are a group of rare disorders associated with abnormal lymphatic development that arise in infants and children. These disorders can be disfiguring, painful, and even life-threatening. In our clinical experiences, families affected by CLAs have described multiple barriers to care and communication, such as difficulty accessing care from CLA experts, persistent uncertainty about the diagnosis and long-term consequences, insufficient information to guide decisions, and the necessity of persistent parental advocacy to ensure the child receives adequate medical care. However, no researchers have explored or categorized the needs or barriers experienced by these families. Without this critical information, we cannot provide guidance to clinicians, patients, parents, or advocacy groups on how to best support these families to overcome care and communication challenges. Furthermore, this foundational knowledge is necessary to support the development of interventions and systemic changes to improve care for these families. In this study, we will characterize the care and communication needs of families affected by CLAs and identify resources and coping strategies from the perspectives of parents using qualitative semi-structured interviews (Aim 1). We will also assess the psychosocial wellbeing of parents and the quality of communication using survey methodology (Aim 2). To disseminate findings and seek feedback from the CLA community (Aim 3), we will host separate interactive webinars with the Lymphangiomatosis and Gorham’s Disease Alliance (LGDA) and the Chan-Zuckerberg Institute (CZI) Lymphatic Researchers Network. These findings will be essential to improve care and ensure that scientific discoveries translate to actual clinical benefits for families affected by CLAs.

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MDBR, LGDALMI Million Dollar Bike Ride MDBR, LGDALMI Million Dollar Bike Ride

Understanding the effects of Sirolimus/Zolendronic acid treatment on bone remodeling activity in patients with Gorham-Stout disease

Andrea Del Fattore

Bambino Gesù Children’s Hospital

$81,965

Awardee: Andrea Del Fattore

Institution: Bambino Gesù Children’s Hospital

Award Amount: $81,965

Funding Period: February 1, 2021 - January 31, 2022

Gorham-Stout disease (GSD) is a rare bone disorder characterized by angiomatous proliferation and progressive bone loss, resulting in the appearance of the so-called “vanishing bone” disease. In our previous study, we characterized the cellular alterations leading to the perturbation of physiological bone remodeling. Indeed, we identified in GSD patients increased ability of osteoclast precursors to differentiate into mature cells and alteration of immune cells. This study seeks to characterize the effects of the treatment with mammalian target of rapamycin (mTOR) inhibitor Sirolimus and bisphosphonate Zolendronic acid on the players of remodeling process, investigating the precursors of bone resorbing osteoclasts and the immune cells.

Sirolimus is known to inhibit lymphangiogenesis and is thought to act on lymphatic tissue within lesions regulating production and leakage of lymph. Furthermore, Sirolimus influences immune cells. Bisphosphonates inhibit osteoclast bone erosion and also exert anti-angiogenic effect. Since Sirolimus and bisphosphonates may have an additive effect, GSD patients were treated with the Sirolimus and Zolendronic acid with the aim to stop the disease progression, inhibiting angiogenesis and osteoclast activity, and stimulating immune cells.

This proposal will be important to monitor the efficacy of the treatment and to identify potential prognostic markers, with the aim to translate the results into a better care of GSD patients.

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