Primordial Dwarfism Registry

Last updated: September 26, 2024
Sponsor: Nemours Children's Clinic
Overall Status: Active - Recruiting

Phase

N/A

Condition

Growth Hormone Deficiencies/abnormalities

Severe Short Stature

Holoprosencephaly

Treatment

N/A

Clinical Study ID

NCT04569149
MB001
  • All Genders

Study Summary

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

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Individuals with MOPDII, MOPDI/III, Meier-Gorlin syndrome, or unclassified orclosely related types of microcephalic primordial dwarfism as diagnosed by a medicalprovider are eligible for this registry.

Exclusion

Exclusion Criteria:

  • individuals without microcephalic primordial dwarfism or closely related conditions

Study Design

Total Participants: 150
Study Start date:
March 11, 2008
Estimated Completion Date:
January 01, 2030

Study Description

The goal of this registry is to collect information on individuals with forms of microcephalic primordial dwarfism. The registry will enable detailed natural history studies of MOPD II and associated conditions. The study team hopes that identification of risk factors will allow for preventative treatments and thus a better quality of life for individuals with these diagnoses.

This study is limited to chart review, after signed informed consent obtained. There will be no additional visits or time in clinic because of participation in this registry. This study involves only the collection and storage of data extracted from the medical record. Records that may be requested and reviewed as a part of this study include but may not be limited to: specialist evaluations, surgical reports, results of blood and urine tests, genetic testing, x-rays, CT/MRI/MRA imaging. There are no special procedures, visits, or expectations of the individual as a result of participation in this registry. No one will be asked to have any specific testing for the sole purposes of this research.

Connect with a study center

  • Nemours

    Wilmington, Delaware 19803
    United States

    Active - Recruiting

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