Clinical trial: Prospective Clinical Assessment Study in Children With Achondroplasia (ACH) (NCT04035811)

Eligibility criteria:
Inclusion Criteria:

          -  Signed informed consent by study participant or parent(s) or legally authorized
             representative (LAR) and signed informed assent by the study participant (when
             applicable)

          -  Aged 2.5 to 10 years (inclusive) at study entry

          -  Diagnosis of ACH

          -  Ambulatory and able to stand without assistance

          -  Study participants and parent(s) or LAR(s) are willing and able to comply with study
             visits and study procedures

        Exclusion Criteria:

          -  Have hypochondroplasia or short stature condition other than ACH (e.g trisomy 21,
             pseudoachondroplasia, psychosocial short stature)

          -  In females, having had their menarche

          -  Height < -2 or > +2 standard deviations for age and sex based on reference tables on
             growth in children with ACH

          -  Annualized height growth velocity ≤1.5 cm/year over a period ≥6 months prior to
             screening

          -  Have a concurrent disease or condition that in the view of the Investigator and/or
             Sponsor, may impact growth or where the treatment is known to impact growth.

          -  Significant abnormality in screening laboratory results.

          -  Have been treated with growth hormone, insulin-like growth factor 1 (IGF 1), or
             anabolic steroids in the previous 6 months or long-term treatment (>3 months) at any
             time

          -  Have received a C-type natriuretic peptide (CNP) analog or treatment targeting
             fibroblast growth factor receptor (FGFR) inhibition at any time

          -  Have had regular long-term treatment (>1 month) with oral corticosteroids (low-dose
             ongoing inhaled steroid for asthma is acceptable)

          -  Have used any other investigational product or investigational medical device for the
             treatment of ACH or short stature

          -  Have had previous limb-lengthening surgery
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 30 Months old.
Subject must be at most 10 Years

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? Entailment