Rhythm Pharmaceuticals Announces New ICD-10 Diagnosis Code Established for Bardet-Biedl Syndrome

Specific coding expected to improve disease awareness, understanding and diagnosis and may enhance access to therapies for patients with BBS

BOSTON, Sept. 06, 2023 (GLOBE NEWSWIRE) -- Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM), a commercial-stage biopharmaceutical company focused on transforming the lives of patients and their families living with hyperphagia and severe obesity caused by rare melanocortin-4 receptor (MC4R) pathway diseases, today announced that a new International Classification of Diseases, Tenth Revision (ICD-10) diagnosis code for Bardet-Biedl Syndrome (BBS) was approved by the Centers for Disease Control and Prevention (CDC). The new code, Q87.83 Bardet-Biedl syndrome (BBS), takes effect Oct. 1, 2023.

“Finding and connecting patients, families and physicians across the country has been extremely challenging because of the lack of a dedicated ICD-10 code as patients with BBS are lumped in with many other genetic syndromes,” said Tim Ogden, President of the BBS Foundation. “A new, dedicated ICD-10 code will be welcome news – especially ahead of BBS Global Day on Sept. 24 – and make it easier for families and health care providers alike to access the newest information and best care practices to advance and improve the standard of care.”

Prior to this code taking effect, health care providers were limited to reporting BBS diagnoses through ICD-10 code Q87.89, which is a generic code for congenital malformation syndromes not specific to BBS patients.

“We believe this new disease specific ICD-10 code marks an important advance for the care of patients with BBS,” said Jennifer Chien, Rhythm Executive Vice President and Head of North America. “This BBS code can improve patient identification and yield data that may inform our understanding of disease progression, and diagnostic and treatment journey.”

BBS is a rare genetic syndromic disease with an estimated prevalence of approximately 4,000-5,000 people in the United States. BBS is a multisystemic disorder marked by impairment in the brain, specifically the MC4R pathway in the hypothalamus, which is the root cause of hunger and subsequent early-onset obesity in this patient population. People living with BBS also may experience cognitive impairment, polydactyly, renal dysfunction, hypogonadism, and visual impairment.