Patient case (clinical description): 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's own account: 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.

Clinical trial: A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH)

Eligibility criteria:
Inclusion Criteria:

          -  Have completed 24 months of BMN 111 treatment in Study 111-202.

          -  Parent(s) or guardian(s) are willing and able to provide written, signed informed
             consent. Subjects under the age of majority are willing and able to provide written
             assent (if required). Subjects who reach the age of majority in their country will be
             asked to provide their own written consent upon reaching the legal age of majority.

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

          -  Females >= 10 years old or who have started menses must have a negative pregnancy test
             at baseline and be willing to have additional pregnancy tests during the study

          -  Willing and able to perform all study procedures as physically possible

          -  Parents/caregivers willing to administer daily injections to the subjects and complete
             the required training.

        Exclusion Criteria:

          -  Requires any investigational agent prior to completion of study period.

          -  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.

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

          -  Permanently discontinued BMN 111 during the 111-202 study.

          -  Subject is pregnant at Baseline visit or planning to become pregnant (self or partner)
             at any time during the study.

          -  Current chronic therapy with restricted medications.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 7 Years old.


Eligibility (NLI label): Contradiction