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Investigational Therapy INZ701 for ENPP1 Deficiency
>> YOUR LINK HERE: ___ http://youtube.com/watch?v=7bSWjNXBmIQ
Correction: Dr. Weber cited the genetic incidence of ENPP1 deficiency as 1/100,000 – It is actually 1/64,000 • David Weber, MD, Attending Physician and Medical Director of the Center for Bone Health at Children’s Hospital of Philadelphia, discusses investigational treatment INZ-701 for ENPP1 deficiency. • ENPP1 deficiency is a rare metabolic disease caused by mutations in the ENPP1 enzyme. This enzyme is responsible for the cleavage of ectonucleotides that prevent mineralization. In ENPP1 deficiency, calcium phosphate precipitates throughout the body, accumulating in the wrong places such as blood vessels, skin, eyes, joints, and tendons. This is due to low levels of pyrophosphate and ATP production. • Pyrophosphate is also essential in the formation of the skeletal system. Insufficient pyrophosphate can lead to skeletal abnormalities such as rickets and soft bone. Patients with ENPP1 deficiency also commonly experience walking and mobility issues, pain, inflammation, and bones that fracture easily. Adults may also experience hearing loss, arterial calcification, and cardiac and/or neurological involvement. Approximately half of infants with ENPP1 deficiency die within six months of birth. • There are currently no approved therapies for ENPP1 deficiency. • As Dr. Weber explains, INZ-701 is a subcutaneous investigational ENPP1 enzyme replacement therapy (ERT). It is currently in development for the treatment of ENPP1 deficiency, ABCC6 deficiency, and calciphylaxis. The therapy has so far shown a rapid, significant, and sustained increase in pyrophosphate levels. The efficacy and safety profile has been positive as well. • Presentations from the American Society for Bone and Mineral Research 2024 meeting discussed the following: • Findings emphasizing the significant medical burden of ENPP1 deficiency and ABCC6 deficiency • Data from a natural history study with information on the progression of ENPP1 deficiency • The launch of a global registry in efforts to better understand these rare diseases • The data highlighted the necessity for therapies that address both the cardiovascular and musculoskeletal manifestations of these deficiencies as well as the long-term systemic impact. Within the first few months of life of patients with ENPP1 deficiency, 88% experienced ectopic calcifications and 76% experienced serious cardiovascular complications. In another study, patients with early-onset ABCC6 deficiency experienced significant cardiovascular complications and 44% experienced stroke. • To better understand these diseases, a global registry, PROPEL, is looking to collect clinical data and patient information. • Chapters: • ENPP1 Deficiency Overview 00:00 • What Physicians Should Know 1:57 • Current Management 3:06 • INZ-701 Enzyme Replacement Therapy 4:14 • Data Presented at ASBMR 2024 5:09 • Next Steps 6:09
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