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 Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia

Eligibility criteria:
Inclusion Criteria:

          -  Parent(s) or guardian(s) willing and able to provide signed informed consent after the
             nature of the study has been explained and prior to performance of any
             research-related procedure. Also, willing and able to provide written assent (as
             needed) after the nature of the study has been explained and prior to performance of
             any research-related procedure.

          -  Aged 0 to <= 17 years, inclusive, at study entry.

          -  Have ACH, documented by clinical diagnosis

          -  Are ambulatory and able to stand without assistance (not applicable for infants)

          -  Are willing and able to perform all study procedures as physically possible.

        Exclusion Criteria:

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

          -  Have any of the following disorders:

               -  Hypothyroidism

               -  Insulin-requiring diabetes mellitus

               -  Autoimmune inflammatory disease

               -  Inflammatory bowel disease

               -  Autonomic neuropathy

          -  Have an unstable clinical condition likely to lead to intervention during the course
             of the study, including progressive cervical medullary compression

          -  Growth plates have fused

          -  Have a history of any of the following:

               -  Renal insufficiency

               -  Anemia

          -  Cardiac or vascular disease, including the following:

               -  Cardiac dysfunction (abnormal echocardiogram [ECHO] including left ventricle [LV]
                  mass) at Screening Visit

               -  Hypertrophic cardiomyopathy

               -  Congenital heart disease

               -  Cerebrovascular disease, aortic insufficiency

               -  Clinically significant atrial or ventricular arrhythmias

          -  Current treatment with antihypertensive medications angiotensin-converting enzyme
             (ACE) inhibitors, angiotensin II receptor blockers, diuretics, beta-blockers,
             calcium-channel blockers, cardiac glycosides, systemic anticholinergic agents, any
             medication that may impair or enhance compensatory tachycardia, drugs known to alter
             renal function that is expected to continue for the duration of the study

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

          -  Concomitant medication that prolongs the QT/QTc interval within 14 days or 5
             half-lives, whichever is longer, before the Screening visit

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

          -  Have had bone-related surgery or expected to have bone-related surgery during the
             study period. Subjects with previous limb-lengthening surgery may enroll if surgery
             occurred at least 18 months prior to the study and healing is complete without
             sequelae.

          -  Have any condition that, in the view of the Investigator, places the patient at high
             risk of poor compliance with the visit schedule or of not completing the study.

          -  Concurrent disease or condition that, in the view of the Investigator, would interfere
             with study participation
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.

Subject must be at most 17 Years

Eligibility (NLI label): Entailment