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A Phase 2 Basket Study of Vosoritide in Children With Turner Syndrome, SHOX Deficiency and Noonan Syndrome With an Inadequate Response to Human Growth Hormone

Phase 2
Recruiting
Conditions
Short Stature Homeobox- Containing Gene SHOX Deficiency
Noonan Syndrome
Turner Syndrome
Interventions
Registration Number
NCT06668805
Lead Sponsor
BioMarin Pharmaceutical
Brief Summary

The purpose of this basket study in children with Turner syndrome, SHOX deficiency, and Noonan syndrome is to evaluate the effect of 3 doses of vosoritide versus hGH 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.

Detailed Description

This is a Phase 2, randomized, active-controlled, multicenter, basket study of vosoritide in children with Turner syndrome, short stature homeobox-containing gene (SHOX) deficiency, or Noonan syndrome who have an inadequate response to human growth hormone (hGH) treatment. The study is intended to characterize the short-term efficacy and safety of 3 dosing regimens of vosoritide versus hGH. The efficacy and safety of the vosoritide therapeutic dose will be further evaluated, with a comparison to hGH after 2 years of treatment, and an analysis of the impact of vosoritide on final adult height (FAH).

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
72
Inclusion Criteria
  1. Participants must be ≥ 3 years old, and < 10 years old (females) or < 11 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 ≤ -2.00 SDs in reference to the general population of the same age and sex.
  4. Tanner Stage 1, at time of signing the ICF.
  5. 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.
  6. Are willing to continue on hGH for the Baseline Growth Phase, and for 2 years post randomization if randomized to the hGH arm.
  7. Inadequate response to prior hGH treatment.
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. 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.

Study & Design

Study Type
INTERVENTIONAL
Study Design
PARALLEL
Arm && Interventions
GroupInterventionDescription
Vosoritide Dose 1 - Low DoseVosoritide InjectionDrug: Vosoritide - Dose 1 Injection • Experimental Drug Lyophilized powder for reconstitution
Vosoritide Dose 2 - Medium DoseVosoritide InjectionDrug: Vosoritide - Dose 2 Injection • Experimental Drug Lyophilized powder for reconstitution
Vosoritide Dose 3- High DoseVosoritide InjectionDrug: Vosoritide Dose 3 Injection • Experimental Drug Lyophilized powder for reconstitution
Human Growth HormoneHuman Growth HormoneDrug: Human Growth Hormone
Primary Outcome Measures
NameTimeMethod
Change from baseline in Annualized Growth Velocity (AGV)At 6 months
Secondary Outcome Measures
NameTimeMethod
Change from baseline in height Z-scoreAt 6 months
Change from baseline in height up to Final Adult Height (FAH)Every 6 months through the end of the study, up to 15 years
Change from baseline in height Z-score up to FAHEvery 6 months through the end of the study, up to 15 years
Time vosoritide is present at maximum concentration (Tmax)Every 6 months through the end of the study, up to 15 years
Change from baseline in Height24 months
Change in baseline height Z-score24 months
Change in baseline height in AGV24 months
Incidence of treatment-emergent adverse eventsUntil the end of the study, up to 15 years
Change from baseline in heightAt 6 months
Change from baseline in lumbar spine bone mineral density (BMD) Z-scoreEvery 12 months through the end of the study, up to 15 years
Change from baseline in bone age/chronological ageEvery 12 months through the end of the study, up to 15 years
Change from baseline in total body (less head) BMD Z-scoreEvery 12 months through the end of the study, up to 15 years
Maximum vosoritide observed plasma concentration (Cmax)Every 6 months through he end of the study, up to15 years
Area under the plasma vosoritide concentration time-curve from time 0 to the last measurable concentration (AUC0-t)Every 6 months through the end of the study, up to 15 years
Area under the plasma vosoritide concentration time-curve from time 0 to infinity (AUC0-∞)Every 6 months through the end of the study, up to 15 years
Elimination half-life of vosoritide (t½)Every 6 months through the end of the study, up to 15 years
Apparent clearance of vosoritide (CL/F)Every 6 months through the end of the study, up to 15 years
Apparent volume of distribution of vosoritide (Vz/F)Every 6 months through the end of the study, up to 15 years
Change from baseline on bone growth biomarkersEvery 6 months through the end of the study, up to 15 years
Change from baseline in urine cyclic guanine monophosphate (cGMP)Every 6 months through the end of the study, up to 15 years
Change from baseline in serum collagen X marker (CXM)Every 6 months through the end of the study, up to 15 years
Change from baseline in total body (less head) bone mineral content (BMC)Every 12 months through the end of the study, up to 15 years
Change from baseline in lumbar spine BMCEvery 12 months through the end of the study, up to 15 years

Trial Locations

Locations (13)

Children's Hospital Colorado

🇺🇸

Aurora, Colorado, United States

Nemours Children's Hospital, Delaware (Alfred I. Dupont Hospital for Children)

🇺🇸

Wilmington, Delaware, United States

Nicklaus Children's Hospital

🇺🇸

Miami, Florida, United States

St. Luke's Children's Endocrinology and Diabetes

🇺🇸

Boise, Idaho, United States

Kentucky Children's Hospital

🇺🇸

Lexington, Kentucky, United States

New York Medical College

🇺🇸

Boston, Massachusetts, United States

M Health Fairview Pediatric Specialty Clinic - Explorer

🇺🇸

Minneapolis, Minnesota, United States

Children's Hospital at Montefiore

🇺🇸

Bronx, New York, United States

Atrium Health Carolinas Medical Center

🇺🇸

Charlotte, North Carolina, United States

University of Texas Health Science Center at Houston (UT Health)

🇺🇸

Houston, Texas, United States

Angers University Hospital Center

🇫🇷

Angers, Maine-et-Loire, France

CHU de Toulouse - Hôpital des Enfants

🇫🇷

Toulouse, Occitanie, France

Central University Hospital of Asturias

🇪🇸

Oviedo, Asturias, Spain

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