Primordial Dwarfism Registry

Ligase 4 Syndrome Clinical Trial

Official title:

Primordial Registry at Nemours/Alfred I. duPont Hospital for Children

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04569149
• Other study ID #: MB001
• Status: Recruiting
• Start date: March 11, 2008
• Est. completion date: January 1, 2030

Study information

• Verified date: September 2023
• Source: Nemours Children's Clinic
• Contact: Angela Duker, MS, CGC
• Phone: 302-651-4181
• Email: aduker[@]nemours.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 150
• Est. completion date: January 1, 2030
• Est. primary completion date: January 1, 2030
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Basal Cell Nevus Syndrome
• Dwarfism
• Dwarfism, Pituitary
• Ligase 4 Syndrome
• Meier-Gorlin Syndrome
• Microcephalic Primordial Dwarfism
• Microcephaly
• MOPDII
• Saul-Wilson Syndrome
• Syndrome

Locations

Country	Name	City	State
United States	Nemours	Wilmington	Delaware

Sponsors (3)

Lead Sponsor	Collaborator
Nemours Children's Clinic	Potentials Foundation, Walking with Giants Foundation

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Characterization of the natural history of various forms of primordial dwarfism	Data will be collected at enrollment, and over time, to allow for analysis of associated concerns throughout the lifespan	5 years