Primordial Dwarfism Registry
Primordial Dwarfism Registry at Nemours Children's Hospital, Delaware
Study Overview
Status
Detailed Description
The registry will enable detailed natural history studies of various forms of microcephalic primordial dwarfism as well as related 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.
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Angela Duker, MS, CGC
- Phone Number: 302-651-4181
- Email: aduker@nemours.org
Study Contact Backup
- Name: Emily Longenecker, BS
- Phone Number: 302-298-7978
- Email: emily.longenecker@nemours.org
Study Locations
-
-
Delaware
-
Wilmington, Delaware, United States, 19803
- Recruiting
- Nemours
-
Contact:
- Angela Duker, MS, CGC
- Phone Number: 302-651-4181
- Email: aduker@nemours.org
-
Contact:
- Emily Longenecker, BS
- Phone Number: 302-298-7978
- Email: emily.longenecker@nemours.org
-
Principal Investigator:
- Angela Duker, MS, CGC
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- Individuals with MOPDII, Meier-Gorlin syndrome, IMAGe syndrome, RNU4atac-opathies (MOPDI/III, Roifman syndrome, Lowry-Wood syndrome), LIG4 syndrome, and other classified as well as unclassified types of microcephalic primordial dwarfism and related conditions, as diagnosed by a medical provider, are eligible for this registry.
Exclusion Criteria:
- individuals without microcephalic primordial dwarfism or closely related conditions
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Other
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
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 concerns throughout the lifespan
|
5 years
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Angela Duker, MS, Nemours
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Estimated)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Pathologic Processes
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neoplasms by Histologic Type
- Neoplasms
- Carcinoma
- Neoplasms, Glandular and Epithelial
- Endocrine System Diseases
- Disease
- Cysts
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Stomatognathic Diseases
- Hypothalamic Diseases
- Bone Diseases
- Neoplastic Syndromes, Hereditary
- Jaw Diseases
- Craniofacial Abnormalities
- Musculoskeletal Abnormalities
- Malformations of Cortical Development, Group I
- Malformations of Cortical Development
- Nervous System Malformations
- Bone Diseases, Endocrine
- Pituitary Diseases
- Abnormalities, Multiple
- Bone Diseases, Developmental
- Hypopituitarism
- Odontogenic Cysts
- Jaw Cysts
- Bone Cysts
- Carcinoma, Basal Cell
- Neoplasms, Basal Cell
- Microcephalic Osteodysplastic Primordial Dwarfism, Type II
- Meier-Gorlin syndrome
- Seckel syndrome 1
- Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
- Lowry Wood syndrome
- Roifman syndrome
- LIG4 Syndrome
Other Study ID Numbers
- MB001
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
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