Orphan Technologies Announces First Patients Treated in Phase 1/2 Trial of OT-58 in Homocystinuria

  • Rare metabolic disorder causes severe cardiovascular, skeletal,
    neurologic, and ophthalmic consequences with no adequate treatments
  • OT-58 is a novel, engineered enzyme has demonstrated reduction in
    homocysteine levels in preclinical models
  • Ongoing natural history study to define progression of disease in
    patients suffering from homocystinuria

LEXINGTON, Mass.–(BUSINESS WIRE)–Orphan
Technologies
, a company dedicated to helping patients control their
homocysteine levels, today announced that the first patients have been
treated in a Phase 1/2 clinical trial of OT-58 in patients suffering
from the rare disease classical homocystinuria. OT-58 is a novel,
recombinant enzyme therapy designed to reduce plasma and tissue
homocysteine levels. Classical homocystinuria (HCU) is a rare metabolic
disorder that causes debilitating cardiovascular, neurologic, skeletal,
and ophthalmic side effects.

“Classical homocystinuria is a devastating genetic metabolic disease,
yet the current standard of treatment for patients is inadequate and
decades-old,” stated Harvey Levy, MD, Senior Physician in Medicine,
Division of Genetics and Genomics’ Professor of Pediatrics, Harvard
Medical School. “Biomarker and clinical data from an ongoing natural
history study of classical homocystinuria demonstrate that many patients
receiving the current standard of care for this disease do not receive
sufficient reduction in homocysteine levels to offset the advance of
this devastating disease.”

“Patients living with homocystinuria today suffer from severe side
effects of the ophthalmic, skeletal, cardiovascular and neurocognitive
systems yet there are no effective treatments for this disease,” said
Danae’ Bartke, Executive Director of HCU Network America. “Many patients
remain at risk for the life-threatening consequences of HCU. OT-58 is a
potentially transformative therapy for patients with any elevated level
of homocysteine.”

Homocystinuria is a disease that results from significantly elevated
levels of the amino acid homocysteine that can result in debilitating
effects 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 mainstay treatment for patients with homocystinuria is a
severely protein restricted diet. Compliance with these dietary
restrictions is intractable and regularly results in inadequate
metabolic and disease control leading to severe medical outcomes.

“Orphan Technologies is committed to reducing the burden of patients
suffering from homocystinuria, who currently have no viable treatment
options,” commented J. Frank Glavin, CEO of Orphan Technologies. “We
believe that OT-58 may be a dramatic advance for these patients and we
look forward to the results of this new study. In parallel, we are
conducting a comprehensive and prospective natural history study of
patients with classical homocystinuria as part of our exhaustive
approach to understanding and treating this underdiagnosed and
underserved disease.”

About the Phase 1/2 Clinical Trial of OT-58 in Homocystinuria
The
CBS-HCY-01 study is a double-blind, randomized, placebo-controlled,
phase 1/2 study to assess the safety, tolerability, pharmacokinetics,
pharmacodynamics, and clinical effects of OT-58 in patients with
cystathionine beta-synthase deficient homocystinuria. The study will
enroll up to 20 patients. The primary endpoint of the Phase 1 portion of
the study is safety. Secondary endpoints include evaluation of
pharmacokinetic and pharmacodynamic parameters. More information on the
OT-58 Clinical Study, including participation criteria, is available here.

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 the Homocystinuria Natural History Study
Orphan
Technologies is conducting the first-ever prospective natural history
study of patients with classical homocystinuria to understand how
homocystinuria progresses over time and also to help design new
treatments for patients living with the disease. The goal of this study
is to observe patients over 3 years to learn how their disease is
managed under standard of care. This study does not involve any
investigational medications but will provide information to researchers
who are currently developing a medication to treat the disease. More
information about, including participation criteria for the Natural
History Study of Cystathionine Beta-synthase
Deficiency Homocystinuria (CBSDH), is available here.

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
to reduce plasma and tissue levels of homocysteine. Our lead indication
is in 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

Orphan Technologies
J. Frank Glavin
Glavin.f@orphantechnologies.com

Media
Cory Tromblee
617.571.7220