Rare disease

Hypochondroplasia

Clinical trials recruiting in Australia for Hypochondroplasia, a rare disease, as the public registries list them.

Also called: HCH; Hypochondrodysplasia

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Sources: ClinicalTrials.gov, MedlinePlus, Orphanet Checked: 11 October 2026 Not medical advice

At a glance

6 trials recruiting in Australia

2 trials recruiting overseas

1-9 / 100 000 (Point prevalence, Worldwide, Validated) prevalence

Adolescent; Adult; Antenatal; Childhood; Infancy; Neonatal age of onset

11 October 2026 date last checked

Trials in Australia

This Australian count is likely to be on the low side. It counts the trials this site files under this condition; the registry’s own search is broader and also returns closely related conditions, some of which have their own page here. If you are searching widely, check the registry as well — every trial below links to its own record.

Recruiting Not a phased study

Study for people with Hypochondroplasia
Where
- Royal Children's Hospital Melbourne, Parkville (VIC) — Recruiting
Who can join Age Up to 15 Years. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.

Sponsor BioMarin Pharmaceutical

Timeline

Started 27 November 2023 Today 16 October 2026 Estimated completion 31 December 2043
NCT06212947 · Checked 11 October 2026

Trial details Summary for your GP Official record and contacts
Recruiting Not a phased study

Study for people with Hypochondroplasia
Where
- Murdoch Children's Research Institute - The Royal Children's Hospital Melbourne, Parkville (VIC) — Recruiting
Who can join Age 30 Months to 16 Years. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.

Sponsor QED Therapeutics, a BridgeBio company

Timeline

Started 5 June 2024 Today 16 October 2026 Estimated completion 1 October 2026

Past estimated completion. The registry still lists this trial as open, and the date it gave for finishing has been and gone. Confirm with the official record before you act on it.
NCT06410976 · Checked 11 October 2026

Trial details Summary for your GP Official record and contacts
By invitation Phase 3

Phase 3 study for people with Hypochondroplasia
Where
No Australian site on this record is listed as recruiting right now, even though the trial itself is open. Check with the site or the official record before travelling.
- Murdoch Children's Research Institute - The Royal Children's Hospital Melbourne, Parkville (VIC) — this site's status is not stated on the record
Who can join Age 3 Years to 18 Years. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.

Sponsor QED Therapeutics, a BridgeBio company

Timeline

Started 22 April 2025 Today 16 October 2026 Estimated completion 1 January 2027
NCT06873035 · Checked 11 October 2026

Trial details Summary for your GP Official record and contacts
By invitation Phase 3

Phase 3 study for people with Hypochondroplasia
Where
No Australian site on this record is listed as recruiting right now, even though the trial itself is open. Check with the site or the official record before travelling.
- Murdoch Children's Research Institute of The Royal Children's Hospital, Parkville (VIC) — this site's status is not stated on the record
Who can join Age child, adult, older adult. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.

Sponsor BioMarin Pharmaceutical

Timeline

Started 20 June 2025 Today 16 October 2026 Estimated completion 1 October 2044
NCT07073014 · Checked 11 October 2026

Trial details Summary for your GP Official record and contacts
Recruiting Phase 2

Phase 2 study for people with Hypochondroplasia
Where
- Children's Health Queensland Hospital and Health Service, South Brisbane (QLD) — Not yet recruiting
- Royal Children's Hospital Melbourne, Parkville (VIC) — Recruiting
Who can join Age 0 Months to 36 Months. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.

Sponsor BioMarin Pharmaceutical

Timeline

Started 30 July 2025 Today 16 October 2026 Estimated completion 30 June 2028
NCT07126262 · Checked 11 October 2026

Trial details Summary for your GP Official record and contacts
By invitation Phase 2

Phase 2 study for people with Hypochondroplasia
Where
No Australian site on this record is listed as recruiting right now, even though the trial itself is open. Check with the site or the official record before travelling.
- Murdoch Children's Research Institute - The Royal Children's Hospital Melbourne, Parkville (VIC) — this site's status is not stated on the record
Who can join Age 3 Years to 18 Years. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.

Sponsor QED Therapeutics, a BridgeBio company

Timeline

Started 23 April 2026 Today 16 October 2026 Estimated completion 31 May 2036
NCT07393373 · Checked 11 October 2026

Trial details Summary for your GP Official record and contacts

Trials overseas

2 trials for this disease are open to new participants outside Australia, as ClinicalTrials.gov listed them on 11 October 2026. Voxsanity does not publish a page for any of them; the searches below reach them at the registry.

These overseas counts are likely too high. They come from the registry’s own search, which expands a condition name to related conditions, so some of the trials counted are for a different disease in the same family.

Search ClinicalTrials.gov Search the WHO registry portal Joining a trial overseas

Trials not shown here

Some Australian trials are registered only on the Australian New Zealand Clinical Trials Registry and are not shown here. Search them at Australian Clinical Trials.

Key facts

Inheritance Autosomal dominant

Genes FGFR3

Prevalence 1-9 / 100 000 (Point prevalence, Worldwide, Validated)

Age of onset Adolescent; Adult; Antenatal; Childhood; Infancy; Neonatal

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Used under CC BY 4.0. Source: Orphanet / Orphadata (orphadata.com).

About Hypochondroplasia

The text below is reproduced exactly as its source published it. It has not been edited, shortened or rewritten.

Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder. All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a a large head (macrocephaly), limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen in people with achondroplasia and may not be noticeable until early or middle childhood. Affected individuals have a small increased risk of a seizure disorder known as temporal lobe epilepsy. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.

US source; availability in Australia may differ.

Source: MedlinePlus Genetics (medlineplus.gov), public domain (U.S. National Library of Medicine). Read the full source.

Sources and dates

ClinicalTrials.gov – trial records, statuses and site lists
MedlinePlus – the About text above, reproduced exactly
Orphanet / Orphadata – prevalence, age of onset, inheritance, genes and alternative names, used under CC BY 4.0
ClinicalTrials.gov processing date: 9 September 2026.
This page last checked by Voxsanity: 11 October 2026.

Voxsanity reformats data from public registries into this layout. It does not edit, interpret or add to what the registry published.

Not medical advice.

Individual trial records are refreshed on a rolling basis rather than all at once, so a record may be up to several weeks old. Each trial page and trial card shows the date its own record was last synced. Where a record has lagged, its status, sites and enrolment can differ from the current registry state in either direction, so check the registry link on the trial page before acting on them.

Orphanet citation

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Used under CC BY 4.0. Source: Orphanet / Orphadata (orphadata.com). Accessed 20 September 2026.

ORPHA:429

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