Clinical Trial Details
— Status: Recruiting
Administrative data
NCT number |
NCT04569162 |
Other study ID # |
MB002 |
Secondary ID |
|
Status |
Recruiting |
Phase |
|
First received |
|
Last updated |
|
Start date |
May 17, 2013 |
Est. completion date |
January 1, 2030 |
Study information
Verified date |
September 2023 |
Source |
Nemours Children's Clinic |
Contact |
Andrea Schelhaas, MS, CGC |
Phone |
302-298-2445 |
Email |
andrea.schelhaas[@]nemours.org |
Is FDA regulated |
No |
Health authority |
|
Study type |
Observational [Patient Registry]
|
Clinical Trial 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.
Description:
The goal of this registry is to collect information on individuals with rhizomelic
chondrodysplasia punctata (also called RCDP). This registry will enable detailed natural
history studies of RCDP, with the hopes that identification of risk factors will allow for
preventative treatments and thus a better quality of life for individuals with these
diagnoses.
This study is limited to chart review, after signed informed consent obtained. There will be
no additional visits or time in clinic because of participation in this registry. This study
involves only the collection and storage of data extracted from the medical record. Records
that may be requested and reviewed as a part of this study include but may not be limited to:
specialist evaluations, surgical reports, results of blood and urine tests, genetic testing,
x-rays, CT/MRI imaging. There are no special procedures, visits, or expectations of the
individual as a result of participation in this registry. No one will be asked to have any
specific testing for the sole purposes of this research.