Primordial Dwarfism Registry

Recruiting now

Conditions studied: MOPDII, Meier-Gorlin Syndrome, Saul-Wilson Syndrome, Microcephalic Primordial Dwarfism, IMAGe Syndrome, RNU4atac-opathy (e.g MOPDI, Lowry-Wood Syndrome, and Roifman Syndrome), LIG4 Syndrome

In brief

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.

Key facts

Study ID

NCT04569149

Run by

Nemours Children's Clinic

People needed

200

Starts

2008-03-11

Expected to finish

2030-01-01

Last updated by the study team

2025-10-01

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• individuals without microcephalic primordial dwarfism or closely related conditions

Where it is running

• Nemours — Wilmington, Delaware, United States (enrolling)

Full record on ClinicalTrials.gov

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