For the last 10 years, the only effective treatment for hypophosphatasia (HPP) has been an enzyme replacement therapy that must be delivered by injection three to six.

“It’s been a trendous success and has proven to be a lifesving treatment,” said josé luis millán, Ph.D., Professor in the Human Genetics Program at Sanford Burnham Prebys. “Many Children who has been treated otherwise

“It is, however, a very invasive treatment.

HPP -Loso Known as Soft Bone Disease – is a rare inherited disorder that causes abnormal developments of bones and premature loss of teeth. HPP Ranges in Severity. Milder Cases put affected adults at great breaking bones. Severe Forms of the Condition Cause Life-Threatening Disease in Approximately One per 100,000 live births.

Currently, Patients are treated with injections of asfotase Alfa, a Mineral-Targeted Form of the Missing Enzyme Called Tissue-Nonspecific ALKALINE PhOSPHATASE (TNAP). This FDA-Papproved Therapy is based on Millán’s Decades of Research on the Tnap Enzyme and His Laboratory’s Studies Demonstruating Preclinical Safeety and Efficiency.

“We believe the next evolution in treatment HPP will be a gene therapy in which a single injected dose will provide a lifelong treatment for patients,” Said Millán.

In a paper Published in the Journal of Bone and Mineral ResearchMillán’s Team and Collaborators Added Additional Weight to Prior Preclinical Evidence of the Safety and Effectiveness of a Genepy for HPP.

A commentary on this study also appears in the Journal of Bone and Mineral Research,

The new study focused on aav8-tnap-d10, a virus engineered not to cause disease but raather to deliver a gene capable of production the Missing the Missing Tnap Enzyme and Reversing the Malformation of Bones and TETH. While Previous Research in the Millán Lab Had Demonstrated The Safety and Effectiveness of this Approach, The New Investigation is Intended to Inform Future Clinical Trials by Including DOFFERENT DOFFERENT DOFFERENT e and female mice, and examineations of early- and late -onset forms of hpp.

“We have essentially titrated the viral vector to show which dose achieves efficacy without causing side effects án. “Our data provide a clear starting point for clinical trials.”

The research team also noted one unexpected finding. In Mice Modened to Develop Late-orSet HPP as Adults Rather Than Infants, The Genepy was more effective on Female Mice, and in Females the improvements in bone and teeth wasre dose of the Treatment.

The scientists then compared the location of new enzymatic activity spurred by the gene therapy. In adult female mice with late-orSet hpp, the greatest Amount of Activity Occurred in the limb muscle, the site of injection of the viral vector. In Males, however, the most activity was found in the liver.

“When i presented the data Regarding this sexual dimorphism at the American Society for Bone and Mineral Research in Toronto Last Year, Several Physicians Shared That This PhenonOne IS KNOWN IN MICE Primates or Humans, “said Millán. “We don’t anticipate Seeing this in future clinical trials, but there is monitoring the trials will be aware of the possible.”

With Ample Preclinical Research Now Establed in the Scientific Literature, The Next Step is for Millán and His longtime collaborators – DRS. Takashi Shimada and Koichi Miyake of Nippon Medical School in Japan-To Engage With A Company Capable of Advanceing Aav8-TNAP-D10 Into Clinical Trials. Millán is also focused on future research to understand long-term complications that Patients with HPP May Face in the Next Few Decades.

“We have Patients Now that will have long lives thanks to enzyme replacement and future therapies, but we’re only almost to fix the skeletal mineralization. The kidney, the immune System and Elsewhere.

“That is what obcupies my mind right now. We need to anticipate long-term problems before they happy