Inozyme
ENERGY 3 is clinical trial at Cook Children’s Hospital, Children’s Hospital of Philadelphia and Lurie Children’s for children who have ENPP1 Deficiency (ARHR2). This is a multicenter, randomized, open label trial in pediatric patients with skeletal abnormalities of the disease. This clinical trial will evaluate INZ-701, a human recombinant enzyme replacement therapy, compared with current standard of care.
The ENERGY-3 trial is expected to enroll up to 33 patients between the ages of one and less than 13 years of age across multiple global sites. Additional information on this trial can be found at
https://clinicaltrials.gov/study/NCT06046820?cond=ENPP1&rank=5
If you would like to learn more about this pediatric study and see if any of your patients with ENPP1 Deficiency (ARHR2) may be eligible to participate, please reach out to the PI at one of the institutions listed above.
Learn More! See additional resources HERE
Invitae
Your Health Starts in Your Genes
Invitae’s mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae’s goal is to make High Quality genetic testing Affordable and Accessible for everyone. Invitae – Chosen by 4,000,000+ patients and their providers
Learn More! See additional resources HERE
PTC Therapeutics
Extending life’s moments for patients with rare diseases and their loved ones
PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC’s ability to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. The Company’s strategy is to leverage its strong scientific expertise and global commercial infrastructure to maximize value for its patients and other stakeholders. PTC Therapeutics – Home (ptcbio.com)
Learn More. See Additional Resources about AADC Deficiency HERE
Sanofi
Medical Educational Resources (US healthcare providers only): https://www.rarediseases.sanofimedical.com/
Rare Disease University (US healthcare providers only): https://rdu-online.com
Zevra Therapeutics
Zevra Therapeutics is a rare disease company combining science, data, and patient needs to create transformational therapies for diseases with limited or no treatment options. Our mission is to bring life-changing therapeutics to people living with rare diseases. With unique, data-driven development and commercialization strategies, the Company is overcoming complex drug development challenges to make new therapies available to the rare disease community.
For more information, please visit https://zevra.com