This test is a companion diagnostic device intended to select adult and pediatric patients 6 years of age and older who have obesity and certain variants in POMC/PCSK1/LEPR genes for treatment with IMCIVREE® (setmelanotide) in accordance with the approved therapeutic product labeling.
No-cost genetic testing is being offered through a program sponsored by Inozyme Pharma. The genetic testing is for Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) Deficiency and ATP binding cassette subfamily C member 6 (ABCC6) Deficiency. ENPP1 Deficiency causes Generalized Arterial Calcification of Infancy (GACI) Type 1 in infants, and Autosomal Recessive Hypophosphatemic Rickets, type 2 (ARHR2) post infancy. ABCC6 Deficiency causes GACI type 2 in infancy.
The Uncovering Rare Obesity program, sponsored by Rhythm Pharmaceuticals, focuses on diagnosing rare genetic diseases of obesity through comprehensive genetic testing. The program targets conditions influenced by genetic variants, particularly in the MC4R pathway, which regulates hunger and energy balance. This testing, conducted at no charge to patients, covers nearly 80 genes related to obesity, providing insights that can help in understanding the root causes of severe obesity and hyperphagia from an early age. This program is beneficial for those showing clinical symptoms or having a history suggestive of these genetic conditions.
In partnership with UCB, this No-Cost Genetic Testing Program is available to individuals with a suspected or clinical diagnosis of Thymidine Kinase 2 Deficiency (TK2d) is a rare, inherited, and debilitating myopathic mitochondrial disease that is often fatal and can present at any age. It is a mitochondrial DNA depletion disorder.
