Primordial Dwarfism Registry

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Unknown
Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

Observational [Patient Registry]
Eligible Ages N/A and Over
Gender All
More Inclusion & Exclusion Criteria

Inclusion Criteria:

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

Exclusion Criteria:

- individuals without microcephalic primordial dwarfism or closely related conditions

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

NCT04569149
Phase

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

Nemours Children's Clinic
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Angela Duker, MS
Principal Investigator Affiliation Nemours
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Other
Overall Status Recruiting
Countries United States
Conditions

The disease, disorder, syndrome, illness, or injury that is being studied.

MOPDII, RNU4atac-opathy (e.g. MOPDI/III, Lowry-Wood Syndrome, Roifman Syndrome), Meier-Gorlin Syndrome, Saul-Wilson Syndrome, Ligase 4 Syndrome, Microcephalic Primordial Dwarfism
Additional Details

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.

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

Nemours, Wilmington, Delaware

Status

Recruiting

Address

Nemours

Wilmington, Delaware, 19803

Site Contact

Angela Duker, MS, CGC

[email protected]

302-651-4181

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