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Metabolic
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Study Shows Prevalence of Classical Homocystinuria Substantially Higher than Previously Published Estimates

Posted on March 3, 2020

Orphan Technologies, a company dedicated to helping patients control their homocysteine levels, published study showing that 12,113 patients in the United States are diagnosed with classical homocystinuria (HCU) using strict ICD-10 diagnostic criteria in the US. This prevalence rate is substantially higher than previously published estimates but in-line with genetic modeling estimates. The study, published in the journal BMC Health Services Research, also demonstrated that healthcare costs associated with ICD-10 diagnosed HCU patients were similar to those associated with diagnosed phenylketonuria (PKU) – a rare metabolic genetic disease which affects approximately 15,000 people in the U.S. Overall, the data suggest HCU is often not diagnosed until later in life when homocysteine testing is often conducted, highlighting the need for earlier diagnosis and physician education. Orphan Technologies is developing OT-58, a novel, enzyme therapy designed to reduce plasma and tissue homocysteine levels. OT-58 is currently in a Ph1/2 clinical study in classical HCU patients.

“Our longstanding mission is to reduce the disease burden of HCU patients, who currently have limited treatment options,” commented J. Frank Glavin, CEO of Orphan Technologies. “We are confident that OT-58 could be a lifechanging new therapy for these patients. As is often the case with rare diseases, these data demonstrate that there are many more people affected by the disease than previously published estimates assume. While we are diligently working to provide a new treatment option that can reduce and control homocysteine levels, we recognize that our healthcare system also needs to do a better job of screening and identifying patients as early as possible. We look forward not only to seeing how OT-58 may be able to benefit HCU patients, but how we can partner with patient groups and the medical community to ensure patients are diagnosed as soon as possible to delay or prevent complications associated with this disease.”

The study, led by Orphan Technologies, compared characteristics, healthcare use and costs, and projected prevalence between patients with ICD-10 diagnosed HCU, patients with elevated total homocysteine (tHcy) and no ICD-10 diagnosis, as well as PKU patients. The team used U.S administrative claims data from the IBM® Marketscan® Research Databases to calculate the total prevalence of classical HCU by analyzing patients based on strictly defined diagnosis criteria, broadly defined diagnosis criteria, and elevated tHcy without an ICD-10 diagnosis. ICD-10 codes are used by doctors, health insurance companies, and public health agencies to represent diagnoses. Every disease has its own distinctive ICD-10 code. Prevalence, healthcare costs, frequencies of comorbidities and demographics associated with all groups were evaluated and compared to those associated with PKU.

Based on these data 12,113 patients are estimated to have ICD-10 diagnosed HCU using strict criteria and 31,162 to have HCU using broad diagnostic criteria. Additionally, ICD-10 diagnosed HCU patients had 3-4 times the rate of hospitalizations and more than twice as many total days of hospitalization than patients with PKU. As a result, inpatient costs contributed significantly more to overall healthcare costs among patients with diagnosed HCU compared to PKU patients.

Read the full press release here.

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