Clinical trial: A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of TransCon CNP Administered Once Weekly in Prepubertal Children With Achondroplasia (NCT04085523)

Eligibility criteria:
Inclusion Criteria:

          1. Clinical diagnosis of ACH with genetic confirmation

          2. Age between 2 to 10 years old (inclusive) at Screening Visit

          3. Prepubertal (Stage 1 breasts for girls or testicular volume < 4ml for boys) at
             Screening Visit

          4. Able to stand without assistance

          5. Caregiver willing and able to administer subcutaneous injections of study drug

        Exclusion Criteria:

          1. Clinically significant findings at Screening that:

               -  are expected to require surgical intervention during participation in the trial
                  or

               -  are musculoskeletal in nature, such as Salter-Harris fractures and severe hip
                  pain or

               -  otherwise are considered by investigator or Medical Monitor/Medical Expert to
                  make a participant unfit to receive study drug or undergo trial related
                  procedures

          2. Have received treatment (>3 months) of human growth hormone (hGH) or other medications
             known to affect stature or body proportionality at any time

          3. Have received any dose of medications intended to affect stature or body
             proportionality within the previous 6 months of Screening Visit

          4. Have received any study drug or device intended to affect stature or body
             proportionality at any time

          5. History or presence of injury or disease of the growth plate(s), other than
             Achondroplasia, that affects growth potential of long bones
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 2 Years 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