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Treatment for Rhizomelic Chondrodysplasia Punctata

N/A
Recruiting
Led By Michael Bober, MD, PhD
Research Sponsored by Nemours Children's Clinic
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
* Diagnosed with RCDP or closely related conditions by metabolic and/or genetic testing
Timeline
Screening 3 weeks
Treatment Varies
Follow Up 5 years
Awards & highlights

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.

Eligible Conditions
  • Rhizomelic Chondrodysplasia Punctata
  • Retinitis Pigmentosa-Cone Rod Dystrophy Syndrome
  • Retinitis Pigmentosa
  • Roussy-Lévy Syndrome

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~5 years
This trial's timeline: 3 weeks for screening, Varies for treatment, and 5 years for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.
Primary study objectives
Characterizations of the natural history of rhizomelic chondrodysplasia punctata
Identification of clinical features that are predictive of poor outcomes

Find a Location

Who is running the clinical trial?

Nemours Children's ClinicLead Sponsor
125 Previous Clinical Trials
17,993 Total Patients Enrolled
RhizoKids InternationalUNKNOWN
Michael Bober, MD, PhDPrincipal Investigator - Nemours
Nemours/Alfred I. DuPont Hospital for Children
Tulane University School Of Medicine (Medical School)
Tulane University School Of Medicine (Residency)
2 Previous Clinical Trials
241 Total Patients Enrolled
~32 spots leftby Jan 2030
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