A Phase 2, Randomized, Human Growth Hormone-Controlled, Multicenter, Basket Study of Vosoritide in Children with Turner Syndrome, Short Stature Homeobox-Containing Gene Deficiency, and Noonan Syndrome with an Inadequate Response to Human Growth Hormone

Study on Medication for Children's Growth Conditions

J
John Fuqua, MD

Primary Investigator

Enrolling By Invitation
3 years - 11 years
All
Phase 2
1 participants needed
1 Location

Brief description of study

The purpose of this study in children with Noonan syndrome is to evaluate the effect of 3 doses of vosoritide on growth as measured by AGV after 6 months of treatment. The long-term efficacy and safety of vosoritide at the therapeutic dose will be evaluated up to FAH.

THIS STUDY IS ENROLLING BY INVITATION ONLY - Potential participants who are ≥ 3 years old, and <11 years old (female) or <12 years old (males) at the time of signing the informed consent form (ICF) and who meet diagnostic criteria will be identified by the study team and invited to participate.

Detailed description of study

This is a Phase 2, randomized, multicenter, study of vosoritide in children with Noonan syndrome who have inadequate growth during or after human growth hormone (hGH) treatment. The study is intended to characterize the short-term efficacy and safety of 3 dosing regimens of vosoritide. The efficacy and safety of the vosoritide therapeutic dose will be further evaluated, and an analysis of the impact of vosoritide on final adult height (FAH).

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Turner Syndrome, Short Stature Homeobox-Containing Gene Deficiency, SHOX deficiency, Noonan Syndrome, Riley
  • Age: 3 years - 11 years
  • Gender: All

Inclusion Criteria:

  1. Participants must be ≥ 3 years old, and < 11 years old (females) or < 12 years old (males), at the time of signing the informed consent form
  2. A genetically confirmed diagnosis of Turner syndrome, SHOX deficiency or Noonan syndrome.
  3. A height assessment corresponding to a height Z-score of ≤ -1.28 SDs (below the 10th percentile for height) in reference to the general population of the same age and sex.
  4. Tanner Stage 1, at time of signing the ICF.
  5. Previous or current hGH treatment for short stature associated with their condition.
  6. Inadequate growth confirmed with an AGV that is less than age- and sex-matched average stature AGV determined using median heights from CDC growth charts

Exclusion Criteria:

  1. Participants with Turner syndrome known to have Y-chromosome material unless they have undergone gonadectomy and have fully external female genitalia.
  2. 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.
  3. Bone age advanced beyond chronological age by more than 2 years.
  4. Uncorrected congenital heart disease which places the participant at increased risk of an adverse cardiac outcome in the setting of hypotension,
  5. Have an unstable condition likely to require surgical intervention during the study.
  6. 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.
  7. Previous limb-lengthening surgery, or planned or expected to have limb lengthening surgery during the study period.
  8. Planned or expected bone-related surgery (ie, surgery involving disruption of bone cortex, excluding tooth extraction), during the study period.

This study investigates the effects of an investigational medication on children with Noonan syndrome, Turner syndrome, and SHOX deficiency who have not grown adequately during or after treatment with human growth hormone. The purpose of this study is to evaluate how three different doses of the investigational medication affect growth over a six-month period. Noonan syndrome, Turner syndrome, and SHOX deficiency are conditions that can cause short stature, which means being much shorter than others of the same age and sex.

Participants will receive different doses of the investigational medication to see how it affects their growth. The study will also monitor the safety of the medication and its impact on the final adult height. The investigational medication is compared to a controlled treatment to see which works better. The study does not involve changing any other treatments the participants are currently receiving.

  • Who can participate: Children aged 3 to 10 years for females and 3 to 11 years for males, with Turner syndrome, SHOX deficiency, or Noonan syndrome, can join. They must be shorter than the 10th percentile and have had growth hormone treatment before.
  • Study details: Participants will receive different doses of the investigational medication, and their growth will be measured. The study will also check for any side effects.
Updated on 06 Jul 2026. Study ID: PENDO-BIOMARIN-111-211, 28351
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Interested in the study?

This study is accepting only persons who receive care at a certain clinic or doctor or who are part of an invited group. Questions about this study can be directed to the study team listed in the description or contact your doctor to see if you are eligible.

Accepting Referrals by Invitation Only