Clinical trial: Genetic and Metabolic Disease in Children (NCT02650622)

Eligibility criteria:
Inclusion criteria of Cohort 1- Newborn:

          -  Subjects aged 1-2 days

          -  Subjects with gestational age 37-42 weeks

          -  Subjects with stable clinical status (admitted to normal newborn nursery)

        Inclusion criteria of Cohort 2 - Older children:

        • Subjects aged 0-18 years

        Inclusion criteria of Cohort 3 - Diseased children:

        Subjects (no age limit) with ANY phenotype as below:

          -  Confirmed metabolic or genetic diseases

          -  Suspected metabolic or genetic diseases

          -  Episodic metabolic decompensation (e.g. hypoglycemia, hyperammonemia, metabolic
             acidosis)

          -  Developmental regression

          -  Major congenital malformation

          -  Other unexplained symptoms of potential genetic origin

        Exclusion criteria of Cohort 1 - Newborn:

          -  Subjects with gestational age <37 weeks or >42 weeks

          -  Subjects with overt signs of metabolic dysfunction, distress or genetic diseases
             including hypoglycemia, hyperglycemia, sepsis/shock, hypoxemia, or major congenital
             malformation

          -  Subjects with mothers whose pregnancies were complicated by gestational diabetes,
             gestational hyperglycemia, gestational hypertension, preeclampsia, or any other major
             disorders.

        Exclusion criteria of Cohort 2 - Older children:

          -  Subjects with confirmed metabolic or genetic diseases

          -  Subjects with suspected metabolic or genetic diseases

          -  Subjects with episodic metabolic decompensation (e.g. hypoglycemia, hyperammonemia,
             metabolic acidosis)

          -  Subjects with developmental regression

          -  Subjects with major congenital malformation

        Exclusion criteria of Cohort 3 - Diseased children No.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.



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