- Global Pharma News & Resources

Orphan Technologies Presents Data Indicating that the Prevalence of Homocystinuria is Substantially Higher than Previously Estimated

Orphan Technologies, a Company dedicated to developing novel therapies to dramatically improve the lives of patients suffering from the rare disorder homocystinuria and related diseases, today announced that data presented at the ISPOR Europe 2018 Conference demonstrates that the prevalence of homocystinuria (HCU) is substantially higher than previously estimated. HCU is a rare genetic metabolic disorder that causes debilitating cardiovascular, neurologic and ophthalmic complications. However, current HCU diagnostic modalities are inadequate, resulting in diagnosis later in life.

Data from the study highlights that the overall prevalence of HCU was greater than PKU over a 6-year study period. However, patients with HCU were most frequently diagnosed between the ages of 44-64 compared with patients suffering from phenylketonuria (PKU) who were most frequently diagnosed at birth through age 11. Although HCU and PKU are both inborn errors of metabolism, genetic (inherited) disorders in which the body cannot properly turn food into energy, patients with PKU have the option of life-saving therapeutic interventions due to effective newborn screening, whereas HCU newborn screening (NBS) misses the majority of patients. These data were the subject of an Award Finalist presentation at the ISP0R Europe 2018 Conference entitled Comparison of the Estimated Prevalence of Diagnosed Homocystinuria and Phenylketonuria in the United States by Marcia Sellos-Moura, Frank Glavin, David Lapidus, Patrick T. Horn, Kristin Evans, Carolyn R. Lew and Debra E. Irwin.

“These data demonstrate that homocystinuria is significantly more prevalent than newborn screening data would indicate. Improved diagnostic modalities and therapeutics are required to prevent the comorbidities associated with long-term elevated homocysteine levels,” commented J. Frank Glavin, CEO of Orphan Technologies. “Orphan Technologies is developing a novel enzyme therapy in classical homocystinuria with the hope that we can bring an effective therapeutic to patients suffering from the devastating cardiovascular, neurologic, skeletal, and ophthalmic complications associated with the disease.”

Additional data from a longitudinal analysis of 1.9 million patients with ICD-9 and ICD-10 codes for common comorbidities associated with HCU were described in a presentation titled Claims-Based Analysis of Homocysteine Testing, Elevated Homocysteine Levels, and Homocystinuria Diagnosis in the United States. Data from this study revealed that of 15,012 patients with highly elevated homocysteine levels in the range of classical HCU (>30umol), only 10% had a diagnosis of HCU, indicating that additional patients may be undiagnosed.

About Homocystinuria
Homocystinuria is a rare metabolic disorder causing severe cardiovascular, neurologic and ophthalmic complications with no adequate treatments. Homocystinuria leads to significantly elevated levels of the amino acid homocysteine that can result in debilitating comorbidities in patients including severe cardiovascular, skeletal, neurologic and ophthalmologic complications. Classical homocystinuria is a rare genetic metabolic disorder caused by a deficiency in the enzyme cystathionine beta synthase (CBS). CBS is a pivotal enzyme in the conversion of the amino acid methionine to homocysteine and then to cysteine. The current treatment for patients with homocystinuria is a severely protein restricted diet and compliance with these dietary restrictions is extremely difficult, regularly resulting in inadequate metabolic control and lack of disease control.

About OT-58
OT-58 is a modified recombinant enzyme therapy in development for patients suffering from the rare disease classical homocystinuria. OT-58 is designed to help patients reduce their homocysteine levels and restore a normal lifestyle.

About Orphan Technologies

Orphan Technologies is dedicated to developing novel therapies to dramatically improve the lives of patients suffering from the rare disorder homocystinuria and related diseases. OT-58, our lead drug development candidate, has been optimized as an enzyme therapy for classical homocystinuria, a genetic disease characterized by debilitating cardiovascular, skeletal, neurologic, and ophthalmologic complications. OT-58 is designed to reduce homocysteine levels via a targeted mechanism of action and may have therapeutic applications in other diseases. For more information, please visit

View source version on

Editor Details

Last Updated: 07-Dec-2018