Registry for individuals with microcephalic primordial dwarfism
Primordial Dwarfism Registry at Nemours Children's Hospital, Delaware
This study is collecting information about people with microcephalic primordial dwarfism to better understand their conditions and improve their care.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | Nemours Children's Clinic Academic / other |
| Locations | 1 site (Wilmington, Delaware) |
| Trial ID | NCT04569149 on ClinicalTrials.gov |
What this trial studies
This registry aims to collect comprehensive information on individuals diagnosed with various forms of microcephalic primordial dwarfism, including MOPDII and associated syndromes. By gathering data from medical records, the study seeks to establish a detailed natural history of these conditions, which may help identify risk factors and improve care. Participation involves no additional clinic visits or procedures, as it focuses solely on chart reviews after obtaining informed consent.
Who should consider this trial
Good fit: Ideal candidates for this registry are individuals diagnosed with MOPDII, MOPDI/III, Meier-Gorlin syndrome, or closely related types of microcephalic primordial dwarfism.
Not a fit: Patients without a diagnosis of microcephalic primordial dwarfism or closely related conditions will not benefit from this registry.
Why it matters
Potential benefit: If successful, this registry could lead to improved understanding and management of microcephalic primordial dwarfism, enhancing the quality of life for affected individuals.
How similar studies have performed: While this registry approach is not novel, it builds on previous efforts to understand rare conditions, which have shown success in improving patient care.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Wilmington, Delaware
- Nemours — Wilmington, Delaware, United States (Recruiting)
Study contacts
- Principal investigator: Angela Duker, MS — Nemours
- Study coordinator: Angela Duker, MS, CGC
- Email: aduker@nemours.org
- Phone: 302-651-4181
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.