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Rhizomelic Chondrodysplasia Punctata Registry

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04569162
Recruitment Status : Recruiting
First Posted : September 29, 2020
Last Update Posted : September 29, 2020
Sponsor:
Collaborator:
RhizoKids International
Information provided by (Responsible Party):
Michael Bober, Nemours Children's Clinic

Study Description
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Brief 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.

Condition or disease
RCDP - Rhizomelic Chondrodysplasia Punctata RCDP1 RCDP2 RCDP3 RCDP4 RCDP5

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.

Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Case-Only
Time Perspective: Other
Target Follow-Up Duration: 5 Years
Official Title: Rhizomelic Chondrodysplasia Punctata Registry at A.I. duPont Hospital for Children
Actual Study Start Date : May 17, 2013
Estimated Primary Completion Date : January 1, 2030
Estimated Study Completion Date : January 1, 2030

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Characterizations of the natural history of rhizomelic chondrodysplasia punctata [ Time Frame: 5 years ]
    Data will be collected at enrollment, and over time, to allow for analysis of associated features throughout the lifespan

  2. Identification of clinical features that are predictive of poor outcomes [ Time Frame: 5 years ]
    Identifying risk factors will allow for preventative treatments and thus a better quality of life for individuals with RCDP.


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Any individual at any age with rhizomelic chondrodysplasia punctata or a closely related condition
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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04569162


Contacts
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Contact: Andrea Schelhaas, MS, CGC 302-298-2445 andrea.schelhaas@nemours.org
Contact: Cassondra Brown, MS, CCRC 302-298-7930 cassondra.brown@nemours.org

Locations
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United States, Delaware
Nemours Recruiting
Wilmington, Delaware, United States, 19803
Contact: Andrea Schelhaas, MS, CGC    302-298-2445    andrea.schelhaas@nemours.org   
Contact: Cassondra Brown, MS, CCRC    302-298-7930    cassondra.brown@nemours.org   
Principal Investigator: Michael Bober, MD, PhD         
Sponsors and Collaborators
Nemours Children's Clinic
RhizoKids International
Investigators
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Principal Investigator: Michael Bober, MD, PhD Nemours
More Information
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Responsible Party: Michael Bober, Director of Skeletal Dysplasia Program, Nemours Children's Clinic
ClinicalTrials.gov Identifier: NCT04569162    
Other Study ID Numbers: MB002
First Posted: September 29, 2020    Key Record Dates
Last Update Posted: September 29, 2020
Last Verified: September 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata
Osteochondrodysplasias
Bone Diseases, Developmental
Bone Diseases
 Musculoskeletal Diseases
Peroxisomal Disorders
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases