Primordial Dwarfism Registry

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About the study

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.
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Who can take part

You may be eligible to participate in the study if you meet the following criteria:

INCLUSION CRITERIA

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

Exclusion Criteria:


* individuals without microcephalic primordial dwarfism or closely related conditions


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Study Locations

Enter your ZIP code/Postal code/PIN code to locate study sites near you:

How to Apply


Contact the study center to learn if this study is a good match for you.
Phone iconCall 302-651-4181Email iconEmail Study Center

Study Details


Contition
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
Participants Needed
200
Est. Completion Date
Jan 1, 2030
Treatment Type
OBSERVATIONAL

Sponsor
Nemours Children's Clinic
ClinicalTrials.gov NCT Identifier
NCT04569149
Study Number
MB001

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