Primordial Dwarfism Registry

Recruiting

• Conditions: Microcephalic Primordial Dwarfism; MOPDII; RNU4atac-opathy (e.g. MOPDI/III, Lowry-Wood Syndrome, Roifman Syndrome); Meier-Gorlin Syndrome; Saul-Wilson Syndrome; Ligase 4 Syndrome

• Registration Number: NCT04569149
• Lead Sponsor: Nemours Children's Clinic

Brief Summary

The goal of this registry is to collect information on individuals with 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.

Detailed Description

The goal of this registry is to collect information on individuals with 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.

Study Timeline

• Study Start: 2008-03-11
• Study First Submitted: 2020-09-23
• Study First Submitted QC: 2020-09-23
• Study First Posted: 2020-09-29
• Status Verified: 2024-09
• Last Update Submitted: 2024-09-26
• Last Update Posted: 2024-09-30
• Primary Completion: 2030-01-01
• Study Completion: 2030-01-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 150

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.

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Exclusion Criteria

• individuals without microcephalic primordial dwarfism or closely related conditions

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Characterization of the natural history of various forms of primordial dwarfism	5 years	Data will be collected at enrollment, and over time, to allow for analysis of associated concerns throughout the lifespan

Trial Locations

Locations (1)

Nemours; 🇺🇸 Wilmington, Delaware, United States