100 Participants Needed

Registry for Rhizomelic Chondrodysplasia Punctata

CB
AS
EL
Overseen ByEmily Longenecker, BS
Age: Any Age
Sex: Any
Trial Phase: Academic
Sponsor: Nemours Children's Clinic
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to gather medical information on individuals with rhizomelic chondrodysplasia punctata (RCDP), a rare genetic condition affecting bone growth and development. By collecting this data, researchers hope to better understand RCDP and improve care for those living with it. Currently, the trial does not test any treatment, as the focus is on learning more through a registry. Individuals diagnosed with RCDP or similar conditions through specific testing might be suitable for this study. As an unphased trial, this study offers participants the opportunity to contribute to vital research that could lead to better understanding and future treatments for RCDP.

Do I need to stop my current medications for this trial?

The trial information does not specify whether you need to stop taking your current medications.

Why are researchers excited about this trial?

Researchers are excited about this trial because it aims to gather comprehensive data on Rhizomelic Chondrodysplasia Punctata (RCDP), a rare genetic disorder with no current cure. By creating a registry, the trial hopes to deepen our understanding of the disease's progression and variability. This information could pave the way for developing targeted therapies in the future, offering hope to patients and families affected by RCDP.

Who Is on the Research Team?

MJ

Mahim Jain, MD, PhD

Principal Investigator

Nemours

Are You a Good Fit for This Trial?

Inclusion Criteria

Diagnosed with RCDP or closely related conditions by metabolic and/or genetic testing

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Data Collection

Collection and storage of data extracted from medical records, including specialist evaluations, surgical reports, and imaging results

5 years

Follow-up

Participants are monitored for safety and effectiveness after data collection

5 years

What Are the Treatments Tested in This Trial?

Interventions

  • None

Find a Clinic Near You

Who Is Running the Clinical Trial?

Nemours Children's Clinic

Lead Sponsor

Trials
128
Recruited
18,000+

RhizoKids International

Collaborator

Trials
1
Recruited
100+

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