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

  • Data presented at ISPOR Europe 2018 demonstrates that the
    prevalence of homocystinuria (HCU) is greater than that of
    phenylketonuria (PKU)
  • Study demonstrates that newborn screening fails to capture the vast
    majority of homocystinuria cases

LEXINGTON, Mass.–(BUSINESS WIRE)–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 www.orphantechnologies.com.

Contacts

J. Frank Glavin
781.966.3830