Home Radio codes Pharming Announces New ICD-10-CM Code for APDS, a Rare Primary Immunodeficiency

Pharming Announces New ICD-10-CM Code for APDS, a Rare Primary Immunodeficiency


Implemented by the Centers for Disease Control and Prevention, the diagnostic code will accurately identify US patients with APDS, supporting care and research efforts

LEIDEN, Netherlands, Aug. 2, 2022 /PRNewswire/ — Pharming Group S.A. (“Pharming” or “the Company”) (EURONEXT Amsterdam: PHARM/Nasdaq: PHAR) announces that a new diagnostic code for reporting cases of activated phosphoinositide 3-kinase delta syndrome (APDS), an immune deficiency primary rare, will be added to the International Classification of Diseases, 10e Review, Clinical Modification (ICD-10-CM) by the US Centers for Disease Control and Prevention (CDC). The diagnosis code, D81.82 ‒ Activated phosphoinositide 3-kinase delta syndrome (APDS), will be effective October 1, 2022.

Anurag Relan, Chief Medical Officer of Pharming, commented:

“By assigning this ICD-10-CM code, the CDC officially recognizes APDS as a discrete immunological disease, which will change the lives of those affected by the disease. Using the unique diagnosis code to identify both established and new patients with APDS, physicians will increase care options for those affected while helping to improve global understanding of the prevalence, mechanisms, and outcomes of this progressively debilitating disease. For healthcare professionals, this step marks an opportunity to make a big difference by taking a simple step.”

Assignment of the ICD-10-CM code will, for the first time, allow U.S. physicians and payers to add a diagnosis of APDS to patient health records, helping to connect those individuals with researchers studying the prevalence and course of the disease. Additionally, by assigning a specific diagnosis, the new ICD-10-CM code can help confirm medical necessity in individual patients, improving their access to relevant care options through U.S. health insurance plans.

Caused by genetic variants affecting approximately one to two people in a million, APDS causes significant lymphoproliferation and immune dysfunction, as well as an increased risk of lymphoma. There is no approved therapy for the disease, and treatment is usually limited to supportive care, such as antibiotics and immunoglobulin replacement therapy. Physician and patient advocacy groups specializing in immunodeficiency disorders, as well as Pharming, await the decision to raise awareness of this rare disease.

Vicki and Fred Modell, co-founders of the Jeffrey Modell Foundation, commented:

“We are delighted that US regulatory authorities have assigned APDS an ICD-10-CM code. As a foundation dedicated to early diagnosis, meaningful treatments and cures for primary immunodeficiency, we are aware of the physical challenges and emotional experiences that people with APDS face due to misdiagnosis of their disease. By increasing recognition of the disease, we expect the new diagnosis code to help ensure that every patient is included when it is about providing appropriate and meaningful treatments for APDS.

About Activated Phosphoinositide 3-Kinase δ Syndrome (APDS)

APDS is a rare primary immune deficiency that affects approximately one to two people in a million. Also known as PASLI, it is caused by variants in one of two genes, PIK3CD Where PIK3R1, which regulate the maturation of white blood cells. Variants of these genes lead to hyperactivity of the PI3Kδ (phosphoinositide 3-kinase delta) pathway.1.2 Balanced signaling in the PI3Kδ pathway is essential for physiological immune function. When this pathway is overactive, immune cells fail to mature and function properly, leading to immunodeficiency and dysregulation.1.3 APDS is characterized by severe and recurrent sinopulmonary infections, lymphoproliferation, autoimmunity and enteropathy.4.5 Because these symptoms can be associated with a variety of conditions, including other primary immunodeficiencies, people with APDS are often misdiagnosed and suffer a median diagnostic delay of 7 years.6 Because APDS is a progressive disease, this delay can cause damage to accumulate over time, including permanent lung damage and lymphoma.4-7 The only way to definitively diagnose this condition is through genetic testing.

About Pharming Group NV

Pharming Group NV (EURONEXT Amsterdam: PHARM/Nasdaq: PHAR) is a global biopharmaceutical company dedicated to transforming the lives of patients with rare, debilitating and life-threatening diseases. Pharming commercializes and develops an innovative portfolio of protein replacement therapies and precision drugs, including small molecules, biologics and gene therapies in early to late-stage development. Pharming is headquartered in Leiden, the Netherlands, and has employees worldwide serving patients in more than 30 markets in North America, Europe, the Middle East, Africa and Asia-Pacific .

For more information, visit www.pharming.com.

About the Jeffrey Modell Foundation

Vicki and Fred Modell established the Jeffrey Modell Foundation (JMF) in 1987, in memory of their son Jeffrey, who died at the age of 15 from complications of primary immunodeficiency (PI) – a chronic, severe and often fatal. JMF is a global non-profit organization dedicated to early diagnosis, meaningful treatments, and ultimately cures through research, physician education, public awareness, advocacy, patient support, newborn screening and genetic sequencing. For more information, visit https://www.info4pi.org/.

Forward-looking statements

This press release contains forward-looking statements, including with respect to the timing and progress of Pharming’s preclinical studies and clinical trials of its product candidates, Pharming’s clinical and commercial prospects, Pharming’s ability to overcome posed by the COVID-19 pandemic to the conduct of its business, and Pharming’s expectations regarding its working capital requirements and cash resources, such statements being subject to a number of risks, uncertainties and assumptions, including but not limited to the scope, progress and expansion of Pharming’s clinical trials and their ramifications for the cost thereof; and clinical, scientific, regulatory and technical developments. In light of these risks and uncertainties, and other risks and uncertainties described in Pharming’s 2021 Annual Report and Annual Report on Form 20-F for the fiscal year ended December 31, 2021 filed with the Securities and Exchange Commission of the United States, the events and circumstances discussed in these forward-looking statements may not occur, and Pharming’s actual results could differ materially and adversely from those anticipated or implied. All forward-looking statements speak only as of the date of this press release and are based on information available to Pharming as of the date of this press release.

Inside information

This press release concerns the disclosure of information which is or could have been classified as inside information within the meaning of Article 7(1) of the European Market Abuse Regulation.


1. Lucas CL, et al. Nat Immunol. 2014;15:88-97.
2. Elkaim E, et al. J Allergy Clin Immunol. 2016;138(1):210-218.
3. Nunes-Santos C, Uzel G, Rosenzweig SD. J Allergy Clin Immunol. 2019;143(5):1676-1687.
4. Coulter TI, et al. J Allergy Clin Immunol. 2017;139(2):597-606.
5. Maccari ME, et al. Immunol before. 2018;9:543.
6. Jamee M, et al. Clin Rev Allergy Immunol. 2019; May 21st.
7. Condliffe AM, Chandra A. Front Immunol. 2018;9:338.

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SOURCE Pharming Group SA

Company Codes: NASDAQ-NMS: PHAR, Bloomberg: [email protected], EuronextAmsterdam: PHARM, RICS: PHAR.AS, ISIN: NL0010391025