MOPDIINCT04569149
Primordial Dwarfism Registry
An observational study of MOPDII and Meier-Gorlin Syndrome, run by Nemours Children's Clinic at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- MOPDII, Meier-Gorlin Syndrome, Saul-Wilson Syndrome
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Mar 2008to 1 Jan 2030
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Any individual at any age with microcephalic primordial dwarfism or a closely related condition
Who may be able to join
- 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.
Who cannot join
- individuals without microcephalic primordial dwarfism or closely related conditions
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Nemours
Wilmington, Delaware, 19803
Angela Duker, MS, CGC, 302-651-4181, aduker@nemours.org
Emily Longenecker, BS, 302-298-7978, emily.longenecker@nemours.org
About this study
Official title: Primordial Dwarfism Registry at Nemours Children's Hospital, Delaware
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.
Read the detailed description
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.
- Conditions
- MOPDII, Meier-Gorlin Syndrome, Saul-Wilson Syndrome, Microcephalic Primordial Dwarfism, IMAGe Syndrome, RNU4atac-opathy (e.g MOPDI, Lowry-Wood Syndrome, and Roifman Syndrome)
- Keywords
- microcephalic primordial dwarfism
- Medical subject headings
- Microcephalic Osteodysplastic Primordial Dwarfism, Type II, Meier-Gorlin syndrome, Seckel syndrome 1, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies, Lowry Wood syndrome, Roifman syndrome, LIG4 Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Characterization of the natural history of various forms of primordial dwarfism
Data will be collected at enrollment, and over time, to allow for analysis of associated concerns throughout the lifespan
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Sep 2020
- Study start11 Mar 2008
- Primary completion1 Jan 2030 (estimated)
- Study completion1 Jan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MOPDIIStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Other
- Enrolment
- 200 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Nemours Children's Clinic
- Sponsor type
- University, hospital or other
- Collaborators
- Potentials Foundation, Walking with Giants Foundation
- Responsible party
- Principal investigator, Angela Duker, Nemours Children's Clinic
- Investigators
- Angela Duker, MS, Principal investigator, Nemours
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04569149
- Sponsor's protocol ID
- MB001
- Status last verified
- Sep 2025
- First submitted
- 23 Sep 2020
- Last updated
- 1 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Primordial Dwarfism Registry at Nemours Children's Hospital, Delaware
- ClinicalTrials.gov ID
- NCT04569149
- Acronym / sponsor ID
- MB001
- Conditions
- MOPDII, Meier-Gorlin Syndrome, Saul-Wilson Syndrome, Microcephalic Primordial Dwarfism, IMAGe Syndrome, RNU4atac-opathy (e.g MOPDI, Lowry-Wood Syndrome, and Roifman Syndrome)
- Keywords
- microcephalic primordial dwarfism
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Nemours Children's ClinicUniversity, hospital or other
- Collaborators
- Potentials Foundation, Walking with Giants Foundation
- Study start
- 11 Mar 2008 (actual)
- Primary completion
- 1 Jan 2030 (estimated)
- Study completion
- 1 Jan 2030 (estimated)
- First posted
- 29 Sep 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Case only
- Time perspective
- Other
- Target follow-up
- 5 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Any individual at any age with microcephalic primordial dwarfism or a closely related condition
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- individuals without microcephalic primordial dwarfism or closely related conditions
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Oct 2025.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Angela Duker, MS principal investigator
Nemours
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of MOPDII and Meier-Gorlin Syndrome, run by Nemours Children's Clinic at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 1 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Angela Duker, MS, CGC (302-651-4181, aduker@nemours.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Characterization of the natural history of various forms of primordial dwarfism (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Oct 2025; AzTrials last refreshed its copy on 27 Oct 2026.