By Clinical Informatics News Staff

April 24, 2018 | The Jeffrey Modell Foundation and X4 Pharmaceuticals announced that they are jointly sponsoring a clinical study establishing a genetic screening protocol to help identify patients who have WHIM syndrome (WHIM), a rare, chronic and life-threatening primary immunodeficiency.

WHIM is caused by a mutation in a patient’s C-X-C chemokine receptor type 4 (CXCR4) genes. The objective of the collaborative study is to establish a systematic diagnostic approach for WHIM by combining clinical features and genetic testing. Currently WHIM patients are seen by a diverse group of medical specialists and often go undiagnosed or are broadly classified as patients with primary immunodeficiency disease of unknown origin and/or unconfirmed diagnosis. 

“The journey for patients with WHIM is long and winding, and can take them to numerous pediatric or adult specialists before specific genetic diagnosis and treatment may be offered,” Jolan Walter, Division Chief and Robert A. Good Endowed Chair of Pediatric Allergy Immunology, University of South Florida at Johns Hopkins All Children’s Hospital and lead investigator of the study, said in a press release. “This study aims to establish a systematic approach for the early diagnosis of WHIM patients among physicians working in different fields. The design allows for targeted genetic screening for mutated CXCR4 in WHIM patients at no cost to patients or insurers.”

Through the collaborative clinical study, up to 300 patients will be evaluated with genetic screening for WHIM. The genetic testing will be carried out by PreventionGenetics.

“Developing diagnostic protocols that use genetic testing is essential for advancing therapeutic innovation to treat primary immunodeficiencies,” said Vicki Modell, Co-Founder of Jeffrey Modell Foundation, in a written statement following the announcement. “This collaboration is an example of the power of public-private partnerships to drive towards a better understanding of a particular primary immunodeficiency with the goal of efficient early identification to improve patient outcomes.”

“Through this collaboration, we will evaluate up to 300 patients, representing the largest WHIM study to date,” said Sudha Parasuraman, Chief Medical Officer of X4 Pharmaceuticals, in a press release from the company. “X4 is pleased to be partnering with the Jeffrey Modell Foundation on this crucial step forward in WHIM patient care. Identification through genetic screening is key to shortening a WHIM patient’s path to diagnosis and will hopefully enable them to access more effective treatments in the future.”