Ongoing Clinical Trials for Hypochondroplasia
There are currently 3 ongoing clinical trials investigating new treatments for hypochondroplasia, a genetic condition affecting bone growth and causing short stature. These studies are evaluating two investigational medications—infigratinib and vosoritide—in children of different age groups across several European countries including Spain, Germany, Italy, France, Sweden, Norway, and Portugal.
Clinical trial locations
- France
- Germany
- Italy
- Norway
- Portugal
- Spain
- Sweden
Study on the Effectiveness and Safety of Infigratinib for Children with Hypochondroplasia and Short Stature
This clinical study is investigating infigratinib as a potential treatment for children with hypochondroplasia who have short stature but still have growth potential. The study includes two phases: an initial open-label phase where all participants receive the active medication, followed by a double-blind, randomized, placebo-controlled phase where participants may receive either the medication or placebo.
Main inclusion criteria: Children must have been participating in a prior observational study for at least 26 weeks and still be enrolled when screening begins. Participants in Phase 2 must be between 5 and 11 years old with a confirmed diagnosis of hypochondroplasia through both clinical examination and genetic testing. They must demonstrate a specific growth rate over at least 26 weeks, be able to swallow oral medication, and walk without assistance. Girls aged 10 or older, or those who have started menstruation, must have a negative pregnancy test. Both the child and parent or guardian must be willing to attend all study visits and complete required procedures.
Main exclusion criteria: The study excludes children with fused or nearly fused growth plates, bone growth disorders other than hypochondroplasia, or those who received growth hormone therapy within 6 months before the study. Children with severe kidney or liver problems, heart rhythm issues, eye problems such as retinal detachment, known allergies to the study drug, history of certain cancers, or inability to swallow pills are also excluded. Pregnant or breastfeeding girls and those planning pregnancy during the study cannot participate.
Focus and goals: The primary objective is to evaluate changes in height velocity, measuring how quickly children grow over a 52-week period. Researchers will also assess body proportions by measuring upper to lower body segment ratios and compare height in relation to other children with the same condition. The study aims to determine whether infigratinib can improve growth patterns in children with hypochondroplasia.
Investigational drug: Infigratinib is an oral medication that targets the underlying cause of hypochondroplasia by blocking the FGFR3 pathway, which is overactive in this condition. By inhibiting this pathway, the drug aims to allow for improved bone growth and development. While already approved for certain cancers, its use for skeletal growth disorders represents a new application addressing the genetic cause rather than just managing symptoms.
Study on the Effectiveness and Safety of Vosoritide for Children with Hypochondroplasia
This clinical trial evaluates vosoritide in children with hypochondroplasia over a one-year period. Participants are randomly assigned to receive either vosoritide or a placebo in a double-blind study design, meaning neither the participants nor researchers know who receives the active medication.
Main inclusion criteria: Children must be between 3 and 18 years old with a confirmed genetic diagnosis showing a specific FGFR3 gene variant associated with hypochondroplasia. Participants need standing height measurements taken for at least six months before randomization and must have a height Z score of -2.0 or lower compared to CDC growth charts. Females aged 10 or older, or those who have started menstruation, must have a negative pregnancy test and agree to additional testing during the study. Sexually active participants must use effective birth control. Both parents or guardians and participants must provide informed consent.
Main exclusion criteria: The study excludes children with known allergies to vosoritide or its ingredients, those who participated in another clinical trial within the last 30 days, and individuals with certain medical conditions that could interfere with results. Pregnant or breastfeeding females, those with severe liver or kidney disease, uncontrolled high blood pressure or diabetes, and those with a history of drug or alcohol abuse within the past year cannot participate. Children unable to comply with study procedures or with a history of cancer within the past five years (except certain skin cancers) are also excluded.
Focus and goals: The primary goal is to assess changes in annualized growth velocity after 52 weeks of treatment compared to baseline measurements. The study monitors standing height regularly and evaluates whether vosoritide can help children with hypochondroplasia grow taller over time.
Investigational drug: Vosoritide is administered through subcutaneous injection under the skin. It is a C-type natriuretic peptide analog that works by binding to a specific receptor regulating bone growth, thereby promoting normal bone development. Available in 1.2 mg and 0.56 mg dosages, it is currently in Phase 3 trials to evaluate safety and efficacy in children with hypochondroplasia.
Study of Vosoritide Safety and Effectiveness in Infants and Young Children (0 to 36 months) with Hypochondroplasia
This study focuses specifically on infants and very young children under 3 years of age with hypochondroplasia. The research evaluates whether vosoritide is safe and effective in improving growth in this youngest age group.
Main inclusion criteria: Children must be between 0 and 36 months old and weigh at least 3 kilograms. A confirmed genetic test showing FGFR3 gene changes associated with hypochondroplasia is required. For babies under 12 months, height must be at or below a Z-score of -1.0; for children between 12 and 36 months, height must be at or below a Z-score of -2.0 compared to children of the same age and sex. Parents or legal guardians must sign informed consent and be willing to administer daily injections after completing proper training.
Main exclusion criteria: The study excludes children who previously participated in vosoritide trials or similar growth-related medication studies. Those with genetic conditions other than hypochondroplasia, severe allergic reactions to medications, major surgery within the past 3 months, active or chronic infections, or significant heart, liver, or kidney problems cannot participate. Children taking growth hormone or other growth-affecting medications, those unable to attend regular visits, or with conditions interfering with growth measurements are also excluded.
Focus and goals: The study evaluates safety and effectiveness of daily vosoritide injections over 52 weeks in this very young population. Researchers monitor linear growth (height), perform regular blood and urine tests, check vital signs, measure body proportions including arm span and body segment ratios, and conduct bone density scans to assess bone health. The trial aims to determine if vosoritide can improve growth in the earliest stages of development.
Investigational drug: Vosoritide is a peptide medication given via subcutaneous injection. It works by activating the natriuretic peptide pathway, which regulates bone growth and development. As a C-type natriuretic peptide analog, it stimulates endochondral bone formation by activating natriuretic peptide receptor-B in growth plate cells. This Phase 2 trial specifically evaluates its safety and efficacy in the youngest children with hypochondroplasia.
Summary
These three clinical trials represent important research efforts to develop effective treatments for children with hypochondroplasia across different age groups. Two distinct medications are being evaluated: infigratinib, an oral medication targeting FGFR3 inhibition, and vosoritide, an injectable C-type natriuretic peptide analog that promotes bone growth through a different mechanism.
The trials are concentrated primarily in Western European countries, with the broadest geographic coverage in the infigratinib study, spanning five countries including Spain, Sweden, France, Norway, and Portugal. The vosoritide studies have a more focused geographic presence, with the main pediatric study conducted in Spain, Germany, Italy, and France, while the infant and young children study is limited to Germany and Italy.
Notably, the studies target different age groups: the infigratinib trial focuses on children aged 5 to 11 years, one vosoritide study includes a broader range from 3 to 18 years, and another specifically addresses the youngest patients from birth to 36 months. This age-stratified approach reflects the importance of understanding treatment effects at different developmental stages.
All studies share common goals of improving growth velocity and height in children with genetically confirmed hypochondroplasia, with primary evaluation periods of 52 weeks. The research emphasizes safety monitoring alongside efficacy assessment, recognizing the importance of long-term safety in pediatric populations with growth disorders.
