Primordial Dwarfism Registry

Primordial Dwarfism Registry at Nemours Children's Hospital, Delaware

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04569149

Enrollment

200

Registered

2020-09-29

Start date

2008-03-11

Completion date

2030-01-01

Last updated

2025-10-01

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

IMAGe Syndrome, LIG4 Syndrome, Meier-Gorlin Syndrome, Microcephalic Primordial Dwarfism, MOPDII, RNU4atac-opathy (e.g MOPDI, Lowry-Wood Syndrome, and Roifman Syndrome), Saul-Wilson Syndrome

Keywords

microcephalic primordial dwarfism

Brief 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.

Detailed description

The registry will enable detailed natural history studies of various forms of microcephalic primordial dwarfism as well as related 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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Characterization of the natural history of various forms of primordial dwarfism	5 years	Data will be collected at enrollment, and over time, to allow for analysis of associated concerns throughout the lifespan

Countries

United States

Contacts

Primary ContactAngela Duker, MS, CGC

aduker@nemours.org302-651-4181

Backup ContactEmily Longenecker, BS

emily.longenecker@nemours.org302-298-7978

Outcome results