Clinical trial: An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia (NCT03424018)

Eligibility criteria:
Inclusion Criteria:

          -  Must have completed Study 111-301

          -  Female >= 10 years old or who have begun menses must have a negative pregnancy test at
             the Baseline Visit and be willing to have additional pregnancy tests during the study

          -  If sexually active, willing to use a highly effective method of contraception while
             participating in the study

          -  Are willing and able to perform all study procedures

          -  Parent(s) or guardian(s) are willing and able to provide written, signed informed
             consent after the nature of the study has been explained and prior to performance of
             any research-related procedure. Also, subjects under the age of majority are willing
             and able to provide written assent (if required by local regulations or the IRB/IEC)
             after the nature of the study has been explained and prior to performance of any
             research-related procedure. Subjects who reach the age of majority in their country
             while the study is ongoing will be asked to provide their own written consent again
             upon reaching the legal age of majority.

        Exclusion Criteria:

          -  Permanently discontinued BMN 111 or placebo prior to completion of the 111-301 study

          -  Have a clinically significant finding or arrhythmia on Baseline ECG that indicates
             abnormal cardiac function

          -  Evidence of decreased growth velocity (<1.5 cm/year) as assessed over a period of at
             least 6 months or of growth plate closure (proximal tibia, distal femur) through
             bilateral lower extremity X-rays.

          -  Require any investigational agent prior to completion of study period

          -  Current therapy with medications known to alter renal function

          -  Pregnant or breastfeeding or plan to become pregnant during study

          -  Concurrent disease or condition that, in the view of the investigator, would interfere
             with study participation or safety evaluations, for any reason.

          -  Have a condition or circumstance that, in the view of the investigator, places the
             subject at high risk for poor treatment compliance or for not completing the study.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 6 Years old.


Patient description (medical language): A 3-year-old girl is brought to the clinic by her parents for assessment of her short stature. Physical examination reveals short limbs and a relatively large head. She has a flat nasal bridge and a small midface. The girl's father exhibits similar physical features; however, her mother looks normal. The genetic testing reveals an autosomal dominant point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene consistent with achondroplasia in both father and the child. The girl has not received any treatment yet, and it is her first visit after immigration to the US. The other mental and developmental examinations are unremarkable.

Patient description (patient's own words): I just brought my little 3-year-old girl to the clinic to have her checked up by the doctor. I was worried sick because she was smaller than her classmates. The lovely doctor performed a physical exam and she told me that she has short limbs and a larger head. My girl also has a flat nasal bridge and a small midface. My baby just has the face of her father, unlike me! They performed some genetic testing on my child and my husband and found out that both my husband and her have a mutation of the FGFR3 gene, which led the doctor to diagnose them with dwarfism. My baby never received any treatment and it was our first visit to the doctor since we arrived in the US. The other tests regarding her mental and physical development were perfectly fine.

Does the patient match the trial criteria? Contradiction