Rhizomelic Chondrodysplasia Punctata Registry

Description

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.

Conditions

RCDP - Rhizomelic Chondrodysplasia Punctata, RCDP1, RCDP2, RCDP3, RCDP4, RCDP5

Study Overview

Study Details

Study overview

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.

Rhizomelic Chondrodysplasia Punctata Registry At Nemours Children's Health

Rhizomelic Chondrodysplasia Punctata Registry

Condition
RCDP - Rhizomelic Chondrodysplasia Punctata
Intervention / Treatment

-

Contacts and Locations

Wilmington

Nemours, Wilmington, Delaware, United States, 19803

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

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

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Nemours Children's Clinic,

Michael Bober, MD, PhD, PRINCIPAL_INVESTIGATOR, Nemours

Study Record Dates

2030-01-01