Actively Recruiting
Primordial Dwarfism Registry at Nemours Children's Hospital, Delaware
Led by Nemours Children's Clinic · Updated on 2025-10-01
200
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
N
Nemours Children's Clinic
Lead Sponsor
P
Potentials Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are collecting information from individuals diagnosed with various forms of microcephalic primordial dwarfism and related conditions through a registry. The goal is to better understand these rare conditions, identify risk factors, and ultimately improve care and quality of life for those affected. This is an observational study focused on gathering data from medical records without additional procedures or visits. The study involves reviewing existing medical records, including specialist evaluations, surgical reports, blood and urine test results, genetic testing, and imaging such as x-rays, CT, MRI, or MRA scans. No new tests or clinic visits are required for participation. All data is collected and stored solely from the participant's medical history. Participants will not be required to attend any study visits or undergo special testing. The research team will analyze the collected information to characterize the natural history of these forms of primordial dwarfism over a period of five years. The study is designed to be minimally invasive, relying entirely on existing medical information without impacting the participant's routine care.
CONDITIONS
Brief Title
Primordial Dwarfism Registry
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals diagnosed by a medical provider with MOPDII, Meier-Gorlin syndrome, IMAGe syndrome, RNU4atac-opathies (including MOPDI/III, Roifman syndrome, Lowry-Wood syndrome), LIG4 syndrome, or other classified and unclassified types of microcephalic primordial dwarfism and related conditions are eligible.
You will not qualify if you...
- Individuals without microcephalic primordial dwarfism or closely related conditions are not eligible.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote) for consent and eligibility confirmation
Duration - Up to 5 years
Participants who undergo routine care are observed through collection of medical records and data extraction related to their condition.
No additional visits; data collected from medical records
Trial Site Locations
Total: 1 location
1
Nemours
Wilmington, Delaware, United States, 19803
Actively Recruiting
Research Team
A
Angela Duker, MS, CGC
E
Emily Longenecker, BS
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Frequently Asked Questions
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