Registry for individuals with microcephalic primordial dwarfism

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This registry aims to collect comprehensive information on individuals diagnosed with various forms of microcephalic primordial dwarfism, including MOPDII and associated syndromes. By gathering data from medical records, the study seeks to establish a detailed natural history of these conditions, which may help identify risk factors and improve care. Participation involves no additional clinic visits or procedures, as it focuses solely on chart reviews after obtaining informed consent.

Why it matters

Who can join: the full rules

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

Where it's running

• Nemours
  Wilmington, Delaware, United States Recruiting

Study contacts

• Principal investigator: Angela Duker, MS — Nemours
• Study coordinator: Angela Duker, MS, CGC
• Email: aduker@nemours.org
• Phone: 302-651-4181

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.