Endocrinology: Clinical Studies Open For Enrollment
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Eligibility
- Male or female, must be ≥ 3 years old, and < 10 years old (females) or < 11 years old (males), at the time of signing the informed consent form (ICF), with a date of birth which ensures they will still meet the age criteria at randomization.
- A genetically confirmed diagnosis of Turner syndrome, SHOX deficiency or Noonan syndrome.
- A height assessment corresponding to a height Z-score of ≤ -2.00 SDs in reference to the general population of the same age and sex, as calculated using the CDC growth charts (https://www.cdc.gov/growthcharts/zscore.htm).
- Tanner Stage 1, at time of signing the ICF (or under 5 years of age).
- Have been receiving continuous hGH for the treatment of short stature associated with their condition for a minimum of 1 year immediately prior to enrollment and be receiving a dose of ≥ 0.35 mg/kg weekly with no dose changes in the last 6 months, and no future dose changes planned.
- Are willing to continue on hGH at their current dose for the Baseline Growth Phase, and for 24 months treatment after randomization if randomized to the hGH group.
- Inadequate response to prior hGH treatment as assessed with documented growth data and confirmed with an AGV (calculated using the difference in height between Screening Visit height and the most recent height measurement obtained in the prior 5 to12 months) that is less than that of age- and sex-matched average stature AGV determined using median heights from CDC growth charts.
- Exclusion Criteria
- Participants with Turner syndrome known to have Y-chromosome material unless they have undergone gonadectomy and have fully external female genitalia.
- Diagnosis of systemic disease or condition that may cause short stature other than Turner syndrome, SHOX deficiency, or Noonan syndrome, eg, renal, neoplastic, pulmonary, cardiac, gastrointestinal, immunologic and metabolic disease. Children with such diagnoses can be considered for inclusion if their condition is well controlled, at the discretion of the BioMarin Medical team.
- Bone age advanced beyond chronological age by more than 2 years assessed using left hand postero-anterior (PA) X-rays, by the Greulich and Pyle method.
- Congenital heart disease which places the participant at increased risk of an adverse cardiac outcome in the setting of hypotension
- A clinically significant finding or arrhythmia on baseline ECG that indicates abnormal cardiac function or conduction or QTc-F > 450 msec.
- Any clinically significant abnormality on Screening tests as determined by the principal investigator (PI). Abnormal Screening labs may be repeated up to 3 months after the Screening Visit. If those labs are normal on repeat, the participant may proceed into the study.
- Have an unstable condition likely to require surgical intervention during the study.
- Evidence of decreased growth velocity (AGV < 1.5 cm/year) as assessed over a period of at least 6 months and growth plate closure assessed using bilateral lower extremity X-rays.
- Vitamin D deficiency (concentration of blood 25-hydroxyvitamin D < 12 ng/mL or < 30 nmol/L) at Screening. Note: participants with blood 25-hydroxyvitamin D below the indicated threshold may receive supplementation and be re-screened after 8 weeks.
Enrollment Status: Enrolling
Study Information
ClinicalTrials.gov | NCT06668805
Principal Investigator
Shilpa Mehta, MD
Contact for Study Screening