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NCT Number: NCT04569149

Primordial Dwarfism Registry

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.

Recruiting

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Key information

Conditions

MOPDII IMAGe Syndrome Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies LIG4 Syndrome Lowry Wood syndrome Meier-Gorlin Syndrome Microcephalic Osteodysplastic Primordial Dwarfism, Type II Microcephalic Primordial Dwarfism RNU4atac-opathy (e.g MOPDI, Lowry-Wood Syndrome, and Roifman Syndrome) Roifman syndrome Saul-Wilson Syndrome Seckel syndrome 1

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Characterization of the natural history of various forms of primordial dwarfism

    Time frame: 5 years

    Data will be collected at enrollment, and over time, to allow for analysis of associated concerns throughout the lifespan

Study contacts

Contact information is provided by the study sponsor or research team.

Angela Duker, MS, CGC

CONTACT

[email protected]

302-651-4181

Emily Longenecker, BS

CONTACT

[email protected]

302-298-7978

Sponsors and collaborators

Lead sponsor

Nemours Children's Clinic

Other

Collaborators

  • Potentials Foundation
  • Walking with Giants Foundation

Registry information

Official study title

Primordial Dwarfism Registry at Nemours Children's Hospital, Delaware

Important dates

Study start
2008
Primary completion
2030
Study completion
2030
First posted
Sep 29, 2020
Registry last updated
Oct 1, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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