Enobia Initiates Infantile Enzyme Replacement Trial for Rare Bone Disease
Baby Girl with Hypophosphatasia Treated With ENB-0040 at Children’s Hospital, Health Sciences Centre in
“Our enzyme replacement therapy program for hypophosphatasia has progressed well,” said
Under two separate protocols, ENB-0040 will be evaluated in both adults and infants afflicted with hypophosphatasia at sites in
Enobia Pharma is pleased to reproduce below today’s announcement made by Children’s Hospital, Health Sciences Centre Winnipeg regarding the dosing of the first infant patient in the early ENB-0040 studies.
CHILD RECEIVING POTENTIALLY LIFE-SAVING TREATMENT AT HSC AS PART OF INTERNATIONAL DRUG TRIAL Infant Girl From Belfast Flown To Winnipeg
The child has a bone disorder known as infantile hypophosphatasia, an often-fatal condition that affects only one in every 100,000 children born. She was flown to
“We are very encouraged so far,” Dr. Rockman-Greenberg said. “But we are still in the early stages, and it will be several more weeks, possibly months before we know whether or not the drug has worked as we hope it will.”
This rare disease leads to severe rickets in infants and children and debilitating osteomalacia — ‘soft bones’ — in adults. The earlier the symptoms appear in the patient, the more severe they will be. When symptoms appear in infancy, up to fifty percent of hypophosphatasia patients die.
The infant girl will remain in
“CORD is delighted to have played a role in helping to bring this infant to
“These efforts underscore the potential severity of hypophosphatasia and the hope that ENB-0040 will be a safe and effective treatment for this disease.” said
The adult male who was initially enrolled in Phase 1 of the trial — designed to demonstrate the drug’s safety — as well as two others who entered afterwards are all doing well.
For more information contact: Heidi Graham Winnipeg Regional Health Authority Tele: (204) 926-7178 Cell: (204) 223-9089 Durhane Wong-Rieger, PhD Canadian Organization for Rare Disorders Tele: (416) 969-7435 Julie Anne Smith Enobia Pharma Tele: (514) 596-2901 x214
Hypophosphatasia is a rare, inherited, and sometimes fatal metabolic bone disease. Patients have low levels of the tissue non-specific form of alkaline phosphatase, an important regulator of bone mineralization, leading to rickets in infants and children and osteomalacia (“soft bones” resulting from poor mineralization) in adults. Disease severity is inversely proportional to the age at symptom onset, but morbidity can be cumulative and worsen with age. Clinical severity ranges from the severe perinatal or infantile form, with profound skeletal hypomineralization and respiratory compromise often causing death, to a more slowly progressive and debilitating osteomalacia in adults.
In the infantile form, infants may appear normal at birth but develop serious symptoms in the first six months of life. These can include failure to thrive, respiratory failure, fractures, and seizures. Radiographic findings include generalized hypomineralization and rickets. Mortality in these patients may be as high as 50%. In the childhood form, patients have varying degrees of hypomineralization, frank rickets, short stature, bone pain, muscle weakness, delayed motor milestones, early loss of deciduous teeth, and may experience frequent, poorly-healing fractures. In the adult form, the underlying osteomalacia causes bone pain due to overt or poorly-healing stress fractures that in some cases stops ambulation.
ENB-0040 is a fusion protein that includes the catalytic domain of human tissue non-specific alkaline phosphatase (TNSALP), and a patented peptide used to target the enzyme to bone. The preclinical studies of ENB-0040 in the “knockout” mouse model of severe hypophosphatasia were recently published in the Journal of Bone and Mineral Research [June 2008:23:777-787] and showed that subcutaneous administration of ENB-0040 significantly improved survival and prevented the skeletal and dental manifestations of the disease. In addition to the ongoing trials, pediatric studies are also being planned. If interested in learning more, email email@example.com.
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