CDC Adds Diagnosis Code for Rare Primary Immunodeficiency


The new code, effective Oct. 1, 2022, allows APDS to be recognized as an distinct immunological disease.

The Centers for Disease Control and Prevention has added a diagnosis code to the International Classification of Diseases, 10th Revision, Clinical Modification (ICD-10-CM) for reporting cases of activated phosphoinositide 3-kinase delta syndrome (APDS). The diagnosis code, D81.82, will be effective starting Oct., 1, 2022, and will allow the CDC and physicians to identify and report on this rare primary immunodeficiency.

Anurag Relan, M.D.

Anurag Relan, M.D.

“By assigning this ICD-10-CM code, the CDC is formally recognizing APDS as a discrete immunological disease, and that will make a life-altering difference for people affected by the condition. By using the unique diagnostic code to identify both established and new patients with APDS, physicians will increase care options for affected individuals while helping to boost the world’s understanding of the prevalence, mechanisms, and outcomes of this progressively debilitating disease,” Anurag Relan, M.D., chief medical officer of Pharming, said in a press release.

APDS is a rare primary immunodeficiency that affects about one to two people per million. Also known as PASLI, it is caused by variants in either of two genes, PIK3CD or PIK3R1, that regulate maturation of white blood cells. Diagnosis is often difficult because of the wide variety of symptoms patients experience.

Pharming is developing a therapeutic, leniolisib, to treat patients 12 years of age and older who have activated PI3K delta syndrome.

In the United States, Pharming filed a new drug application in July 2022 with leniolisib for the treatment of APDS in adults and adolescents aged 12 or older. In Europe, the European Medicines Agency’s Committee for Medicinal Products for Human Use granted an accelerated assessment for Pharming’s application for leniolisib. Pharming plans to submit its marketing authorization application for leniolisib to the EMA in October 2022.

The applications include positive data from a phase 2/3 study, which met both its co-primary endpoints in the target patient population of evaluated reduction in lymph node size and correction of immunodeficiency.

In February 2022, Pharming announced that the multinational, phase 3 portion of the clinical trial, conducted by Novartis, met its co-primary endpoints, which evaluated reduction in lymph node size and correction of immunodeficiency. The shrinking of lymphadenopathy lesions and increased proportion of naïve B cells are important in this population, as they indicate a reduction in APDS disease markers.

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