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Primordial Dwarfism Registry

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ClinicalTrials.gov Identifier: NCT04569149
Recruitment Status : Recruiting
First Posted : September 29, 2020
Last Update Posted : September 29, 2020
Sponsor:
Collaborators:
Potentials Foundation
Walking with Giants Foundation
Information provided by (Responsible Party):
Michael Bober, Nemours Children's Clinic

Brief Summary:
The goal of this registry is to collect information on individuals with Microcephalic Osteodysplastic Primordial Dwarfism Type II (also called MOPDII) and other forms of microcephalic primordial dwarfism. 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
MOPDII MOPDI MOPDIII Taybi Linder Syndrome Meier-Gorlin Syndrome Saul-Wilson Syndrome Ligase 4 Syndrome Lowry Wood Syndrome Microcephalic Primordial Dwarfism

Detailed Description:

The goal of this registry is to collect information on individuals with Microcephalic Osteodysplastic Primordial Dwarfism Type II (also called MOPDII) and other forms of microcephalic primordial dwarfism. The registry will enable detailed natural history studies of MOPD II and associated conditions. The study team 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/MRA 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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 150 participants
Observational Model: Case-Only
Time Perspective: Other
Target Follow-Up Duration: 5 Years
Official Title: Primordial Registry at Nemours/Alfred I. duPont Hospital for Children
Actual Study Start Date : March 11, 2008
Estimated Primary Completion Date : January 1, 2030
Estimated Study Completion Date : January 1, 2030





Primary Outcome Measures :
  1. Characterization of the natural history of various forms of primordial dwarfism [ Time Frame: 5 years ]
    Data will be collected at enrollment, and over time, to allow for analysis of associated features throughout the lifespan



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
Any individual at any age with microcephalic primordial dwarfism or a closely related condition
Criteria

Inclusion Criteria:

  • Individuals with MOPDII, MOPDI/III, Meier-Gorlin syndrome, or unclassified or closely related types of microcephalic primordial dwarfism as diagnosed by a medical provider are eligible for this registry.

Exclusion Criteria:

  • individuals without microcephalic primordial dwarfism or closely related conditions

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): NCT04569149


Contacts
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Contact: Angela Duker, MS, CGC 302-651-4181 aduker@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: Angela Duker, MS, CGC    302-651-4181    aduker@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
Potentials Foundation
Walking with Giants Foundation
Investigators
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Principal Investigator: Michael Bober, MD, PhD Nemours
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Responsible Party: Michael Bober, Director of Skeletal Dysplasia Program, Nemours Children's Clinic
ClinicalTrials.gov Identifier: NCT04569149    
Other Study ID Numbers: MB001
First Posted: September 29, 2020    Key Record Dates
Last Update Posted: September 29, 2020
Last Verified: September 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Michael Bober, Nemours Children's Clinic:
microcephalic primordial dwarfism
Additional relevant MeSH terms:
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Basal Cell Nevus Syndrome
Dwarfism
Dwarfism, Pituitary
Microcephaly
Syndrome
Disease
Pathologic Processes
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Genetic Diseases, Inborn
Endocrine System Diseases
Odontogenic Cysts
Jaw Cysts
Bone Cysts
Cysts
Neoplasms
Carcinoma, Basal Cell
Carcinoma
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Neoplasms, Basal Cell
Neoplastic Syndromes, Hereditary
Jaw Diseases
Stomatognathic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Bone Diseases, Endocrine
Hypopituitarism
Pituitary Diseases