Disease

Hypochondroplasia

Late-stage therapeutic development

Also known as HCH.

Clinical trials

Associated genes

Related proteins

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low

Key developments

1 clinical trial expected to report results, the earliest in Q2 2028.
1 industry development reported.

Upcoming Milestones

Q2 2028A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Safety and Efficacy of Vosoritide in Infants and Young Children With Hypochondroplasia, Aged 0 to < 36 Months

Major developments

Major clinical milestoneHigh impact

A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Vosoritide in Children With Hypochondroplasia

Primary completion2026-08-01

Upcoming trial readoutImportant

A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Safety and Efficacy of Vosoritide in Infants and Young Children With Hypochondroplasia, Aged 0 to < 36 Months

Results expected Q2 20282026-03-31

Clinical Milestones2View

Results expected 1

2026-03-31A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Safety and Efficacy of Vosoritide in Infants and Young Children With Hypochondroplasia, Aged 0 to < 36 MonthsResults expected Q2 2028

Recently completed 1

2026-08-01A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Vosoritide in Children With HypochondroplasiaPrimary completion

Industry & Market1View

2026-08-20Diagnosis of hypochondroplasia: international Delphi consensus recommendationsIndustry · Nature Reviews Endocrinology

Activity timeline3

2026-08-20IndustryDiagnosis of hypochondroplasia: international Delphi consensus recommendationsIndustry · Nature Reviews Endocrinology
2026-08-01ClinicalA Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Vosoritide in Children With HypochondroplasiaPrimary completion
2026-03-31ClinicalA Phase 2, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Safety and Efficacy of Vosoritide in Infants and Young Children With Hypochondroplasia, Aged 0 to < 36 MonthsResults expected Q2 2028

Clinical trials

2 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme

All trials

Active

Late-stage

Completed

Late-stage studies

A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Vosoritide in Children With Hypochondroplasia

Phase 3 · Active, not recruiting · BioMarin Pharmaceutical

Recruiting

Phase 2 · Recruiting · BioMarin Pharmaceutical

Recently completed

Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated Over a Period of 3 Years or 5 Years if Applicable, in Comparison With a Historic Cohort of Non-treated Children With Hypochondroplasia

Phase 2 · Completed · Merck KGaA, Darmstadt, Germany

Associated genes

1 match

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

FGFR30.80

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Fibroblast growth factor receptor 3via FGFR30.80

Reference

Authoritative identity, definition & identifiers.

Synonyms

HCH

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
Related entities are derived from literature co-mention (studied together) — associative, not causal.