Home › NCT04569162

Rhizomelic Chondrodysplasia Punctata Registry

Rhizomelic Chondrodysplasia Punctata Registry at Nemours Children's Health

Who can join

All ages · All sexes

Inclusion Criteria:

* Diagnosed with RCDP or closely related conditions by metabolic and/or genetic testing

Exclusion Criteria:

* Not meeting diagnosis of RCDP or closely related conditions by study team physician review of prior metabolic and/or genetic testing

About the study

The goal of this registry is to collect medical information on individuals with rhizomelic chondrodysplasia punctata and closely related conditions. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.

Sponsor: Nemours Children's Clinic · Participants: 100 · Started: May 17, 2013

Contact the study team

• Emily Longenecker, BS · Phone: 302-298-7978

Official record on ClinicalTrials.gov — NCT04569162

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.