The Hyper IgM Foundation Blog 

NEW YORK, New York—The Hyper IgM Foundation is delighted to announce it has awarded a $10,000 grant to Dr. Maite de la Morena at Seattle Children’s Hospital to support her health-related quality of life (QoL) research in pediatric and adult patients with X-linked Hyper IgM Syndrome.

These funds will support Dr. de la Morena’s continued work to understand the patient-perceived health status of individuals with X-linked Hyper IgM Syndrome (X-HIGM). 

Most patients with XHIGM are diagnosed in childhood after experiencing recurrent bacterial or life-threatening opportunistic infections. Despite therapies with immunoglobulin replacement and prevention strategies for opportunistic infections, liver disease, progressive neurodegeneration of unknown etiology and rare malignancy involving the bile ducts and liver occur. The prognosis is poor, with few patients surviving past the second or third decade of life. Because of such morbidity and mortality, hematopoietic stem cell transplantation (HSCT) has been proposed as the only curative therapy. Current HSCT practices have resulted in improved survival from 68% a decade ago to greater than 80% in more recent studies. However, there are inherent complications related to HSCT, particularly if a fully matched sibling donor is not available.

Traditional outcome measures such as survival or event-free survival, while essential, do not capture whether therapies actually contribute to quality of life while extending life. As such, there is a need to measure outcomes beyond morbidity and mortality. Defining “quality of life” can be challenging because health is only one dimension of interpreting human needs, well-being, and individuals’ perception of his/her role in society. The World Health Organization and the Centers for Diseases Control and Prevention have defined “Health-Related Quality of Life” (HRQOL) as a multidimensional concept that encompasses physical, mental and social domains that affect health. The goal of Dr. de la Morena’s study is to measure HRQOL for pediatric and adult patients with X-linked Hyper IgM Syndrome utilizing the Patient-Reported Outcomes Measurements Information Systems (PROMIS®).