RecruitingNCT04569162

Rhizomelic Chondrodysplasia Punctata Registry

Rhizomelic Chondrodysplasia Punctata Registry at Nemours Children's Health


Sponsor

Nemours Children's Clinic

Enrollment

100 participants

Start Date

May 17, 2013

Study Type

OBSERVATIONAL

Conditions

Summary

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.


Eligibility

Inclusion Criteria1

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

Exclusion Criteria1

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

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Locations(1)

Nemours

Wilmington, Delaware, United States

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NCT04569162


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