Recruiting

Observational StudyPrimordial Dwarfism Registry

Sponsor:

Nemours Children's Clinic

Code:

NCT04569149

Conditions

MOPDII

Meier-Gorlin Syndrome

Saul-Wilson Syndrome

Microcephalic Primordial Dwarfism

IMAGe Syndrome

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The goal of this registry is to collect information on individuals with forms of microcephalic primordial dwarfism as well as related conditions. The study team hopes to learn more about these conditions and improve the care of people with them by establishing this registry.

Conditions

MOPDII

Meier-Gorlin Syndrome

Saul-Wilson Syndrome

Microcephalic Primordial Dwarfism

IMAGe Syndrome

Study ID

NCT04569149

Start date

Mar 11, 2008

Status verified date

Sep, 2025

Completion date

Jan 1, 2030

Anticipated

Primary completion date

Jan 1, 2030

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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 Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

Characterization of the natural history of various forms of primordial dwarfism [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Angela Duker, MS, CGC

302-651-4181 aduker@nemours.org

Emily Longenecker, BS

302-298-7978 emily.longenecker@nemours.org

Locations

Nemours

Recruiting

Wilmington, Delaware, United States, 19803

Contacts

Angela Duker, MS, CGC

302-651-4181 aduker@nemours.org

Emily Longenecker, BS

302-298-7978 emily.longenecker@nemours.org

Principal Investigator:

Angela Duker, MS, CGC

More Information

Sponsor

Nemours Children's Clinic

Last update posted

Oct 1, 2025

Last verified

Sep, 2025

Keywords

microcephalic primordial dwarfism

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Nemours Children's Clinic on 2025-10-01.