Primordial Dwarfism Registry at Nemours Children's Hospital, Delaware
Status: Recruiting
Location: See location...
Study Type: Observational
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.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• 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.
Locations
United States
Delaware
Nemours
RECRUITING
Wilmington
Contact Information
Primary
Angela Duker, MS, CGC
aduker@nemours.org
302-651-4181
Backup
Emily Longenecker, BS
emily.longenecker@nemours.org
302-298-7978
Time Frame
Start Date: 2008-03-11
Estimated Completion Date: 2030-01-01
Participants
Target number of participants: 200
Authors
Related Therapeutic Areas
Sponsors
Leads: Nemours Children's Clinic
Collaborators: Potentials Foundation, Walking with Giants Foundation