Rhizomelic Chondrodysplasia Punctata Registry
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: RCDP - Rhizomelic Chondrodysplasia Punctata, RCDP1, RCDP2, RCDP3. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Rhizomelic Chondrodysplasia Punctata Registry at Nemours Children's Health
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.
Detailed 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.
Primary outcome measures
- Characterizations of the natural history of rhizomelic chondrodysplasia punctata [Time frame: 5 years]
- Identification of clinical features that are predictive of poor outcomes [Time frame: 5 years]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
United States · 1 center
- Nemours — Wilmington
Identifiers
NCT: NCT04569162 · MB002