Rare condition

Rhizomelic chondrodysplasia punctata type 2

ORPHA:309796 ↗Gene GNPATEtiological subtype

2

studies recruiting now

as of 7 Sept 2026

2

studies registered in total

as of 7 Sept 2026

2

countries with a recruiting site

as of 7 Sept 2026

29 Sept 2020

most recent study posted

among recruiting studies

Recruiting trials

Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.

Search all Rhizomelic chondrodysplasia punctata type 2 studies

Where recruiting studies are running

Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.

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Patient organisations

We do not yet list a dedicated organisation for this condition. The directories below are the best route.

About Rhizomelic chondrodysplasia punctata type 2

RareTrial does not yet hold a plain-language description of this condition. The most reliable starting point is Orphanet’s expert page, which lists specialist centres, registries and patient organisations, and the gene involved (GNPAT).

Treatments being studied

1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.

Phase 1Ppi-1011

Related conditions

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).