ÎÞÂëרÇø

Clinical Trial

Offered by: ÎÞÂëרÇø Children's
Location: Delaware Valley

Trial Name

Primordial Registry at ÎÞÂëרÇø Children's Hospital, Delaware

What is the trial about?

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

Who can participate?

MOPD II, RNU4atac-opathies (including MOPDI/III, Roifman Syndrome, Lowry-Wood syndrome), Meier-Gorlin syndrome, IMAGe syndrome, and other types of classified as well as unclassified forms of primordial dwarfism in addition to related conditions will be eligible for enrollment. A study team physician will conduct a diagnostic review for the undiagnosed, and/or the PI will confirm diagnoses made by outside providers.

What is involved?

This study involves only the collection and storage of data extracted from the medical record. There are no special procedures, visits, or expectations of the research participant as a result of participation in this registry. The participant will not be asked to have any specific testing for the sole purposes of research. This study is limited to chart review. There will be no additional visits or time in clinic because of participation in this registry. The study team believes participation will last for at least 5 years.