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News & Recognition
- A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia
- Genetic Testing for Patients With Presumably Genetic Conditions and Family Members
- Effect of TRPV4 Mutation on Calcium Channel Function - Toward New Therapies
- Genetic Basis of Cryptorchidism: Prospective Study
- Primordial Registry
- Rhizomelic Chondrodysplasia Punctata Registry
- The eXtraordinarY Babies Study: Natural History of Health in Children With Sex Chromosome Trisomy
Rhizomelic Chondrodysplasia Punctata Registry
Offered by: Nemours
Location: Delaware Valley
What is the trial about?
The goal of this registry is to collect information on individuals with Rhizomelic Chondrodysplasia Punctata (RCDP) and other related conditions. The study team hopes to learn more about these diagnoses and improve the care of people with it by establishing this registry.
Who can participate?
Individuals with RCDP types 1, 2, and 3 and other closely related conditions as diagnosed by a physician are eligible for this registry.
What is involved?
This study involves only the collection and storage of data extracted from the medical record. There are no special procedures, visits, or expectations of you as a result of participation in this registry. You will not be asked to have any specific testing for the sole purposes of research.
Contact Nemours Clinical Trials
Trial Name: Rhizomelic Chondrodysplasia Punctata Registry at Nemours/Alfred I. duPont Hospital for Children