去年5月、息子の誕生とともにこの病気と診断され、急いで探し当てた同社の治験情報。米政府と共同開発してるんです。

政府のwebには0歳～と書かれているものの、実際には5歳以上の患者が対象であることが判明し嘆きに嘆いた8か月前。

この記事の後も、治験実施研究会と連絡をとりましたが、先のことはわからないとのこと。

何よりも、とにかく人類が不治病として疑わなかった歴史の長いこの病気の治療薬が、世界で初めて、軟骨無形成症患者に投与されたということ。

受忍する覚悟は決めたけど、治るものなら治してあげたい。上手くいくことを祈りつつ。

http://investors.bmrn.com/releasedetail.cfm?ReleaseID=819163

BioMarin Doses First Patient in Phase 2 Trial With BMN 111 for the Treatment of Children With Achondroplasia

SAN RAFAEL, Calif., Jan. 14, 2014 (GLOBE NEWSWIRE) — BioMarin Pharmaceutical Inc. (Nasdaq:BMRN) announced today that it has dosed the first child in the Phase 2 trial with BMN 111, an analog of C-type Natriuretic Peptide (CNP), for the treatment of children with achondroplasia. Achondroplasia is the most common form of disproportionate short stature or dwarfism.

“BMN 111 is representative of BioMarin’s core competency of developing life-altering therapies that address unmet medical needs,” stated Hank Fuchs, M.D., Chief Medical Officer of BioMarin. “In this Phase 2 study, we hope to see improvements in bone growth similar to what was observed in our preclinical models, and resulting improvements in the medical complications of achondroplasia that occur as a result of disproportionate bone growth. We believe treatment with BMN 111 for achondroplastic children will be well-tolerated and could potentially address the underlying cause of this condition and lead to benefits in the lives of these patients.”

The Phase 2 study is an open-label, sequential cohort, dose-escalation study of BMN 111 in children who are 5-14 years old. The primary objective of this study is to assess the safety and tolerability of daily subcutaneous doses of BMN 111 administered for 6 months. The secondary objectives will include an evaluation of change in annualized growth velocity, changes in absolute growth parameters, changes in body proportions and other medically relevant and functional aspects of achondroplasia, such as sleep apnea and joint range of motion. Prior to enrolling in the Phase 2 study, all patients will have participated in a 6 month natural history study to determine baseline growth velocity data. This is an international study that will enroll approximately 24 subjects for a treatment duration of 6 months.