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Primordial Dwarfism Registry

NCT04569149 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2025-10-01

No results posted yet for this study

Summary

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

  • 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

Sponsors & Collaborators

  • Potentials Foundation

    collaborator UNKNOWN

  • Walking with Giants Foundation

    collaborator UNKNOWN

  • Nemours Children's Clinic

    lead OTHER

Principal Investigators

  • Angela Duker, MS · Nemours

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2008-03-11
Primary Completion
2030-01-01
Completion
2030-01-01

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04569149 on ClinicalTrials.gov