Actively Recruiting

All Genders
NCT04569149

Primordial Dwarfism Registry

Led by Nemours Children's Clinic · Updated on 2025-10-01

200

Participants Needed

1

Research Sites

1138 weeks

Total Duration

On this page

Sponsors

N

Nemours Children's Clinic

Lead Sponsor

P

Potentials Foundation

Collaborating Sponsor

AI-Summary

What this Trial Is About

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

Official Title

Primordial Dwarfism Registry

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Individuals diagnosed by a medical provider with MOPDII, Meier-Gorlin syndrome, IMAGe syndrome, RNU4atac-opathies (including MOPDI/III, Roifman syndrome, Lowry-Wood syndrome), LIG4 syndrome, or other classified or unclassified types of microcephalic primordial dwarfism and related conditions are eligible.
Not Eligible

You will not qualify if you...

  • Individuals without microcephalic primordial dwarfism or closely related conditions are not eligible.

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Nemours

Wilmington, Delaware, United States, 19803

Actively Recruiting

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Research Team

A

Angela Duker, MS, CGC

CONTACT

E

Emily Longenecker, BS

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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