GeneDx delivers personalized and actionable health insights that inform diagnosis, direct treatment and improve drug discovery. The company is transforming healthcare through its industry-leading exome and genome testing and interpretation, fueled by one of the world’s largest rare disease data sets and its powerful clinical interpretation engine, Centrellis. GeneDx is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. For more information, please visit genedx.com and connect with us on LinkedIn , Twitter , Facebook , and Instagram .
Are you treating patients with Generalized Arterial Calcification of Infancy (GACI) associated with ENPP1 Deficiency?
An investigational research study is now enrolling infants aged 1-12 months.
Inozyme is conducting a Phase 1b, open-label study to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of INZ-701 in infant subjects with ENPP1 Deficiency.
The investigational drug (INZ-701) is designed to restore pyrophosphate (PPi) to within normal limits and potentially prevent the occurrences of ectopic calcification in patients with ENPP1 deficiency.
The study consists of up to a 60-day Screening Period, a 52-week Treatment Period during which subjects will receive INZ-701, an Extension Period during which subjects may continue to receive INZ-701, and an End of Treatment (EOT) visit 30 days after the last dose of INZ-701. Upon treatment discontinuation, they will continue to be followed for their ongoing disposition for survival outcome if feasible through the end of the study.
KEY ELIGIBILITY CRITERIA
Diagnosed with ENPP1 Deficiency with biallelic (homozygous or compound heterozygous) mutations through genetic testing by a certified laboratory or equivalent.
Male or Female, ages 1 month – 1 year at the time of screening
Subjects must weigh > 5kg at the time of the first dose of INZ-701
Patients who meet the eligibility criteria for the genetic testing program can receive a no-cost, third party genetic test to determine if they have the condition.
If you are interested in learning more about this clinical trial, the free testing program or to refer a patient, please contact:
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. Medical genetic testing experts trust | Invitae
PerkinElmer Genomics is a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Our services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, we answer complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families.
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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)
Ultragenyx is a biopharmaceutical company committed to bringing novel products to patients for the treatment of serious rare and ultrarare genetic diseases. The company has built a diverse portfolio of approved therapies and product candidates aimed at addressing diseases with high unmet medical need and clear biology for treatment, for which there are typically no approved therapies treating the underlying disease.