Aplasia Cutis CongenitaACCNCT01630421
Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
An observational study of Aplasia Cutis Congenita, run by UConn Health at 1 site in United States.
Trial summary
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Aplasia Cutis Congenita
- How many people
- 600 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 2009to Dec 2030
- 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: Individuals with diagnosed ACC
Who may be able to join
- ACC; unaffected individuals only if part of a participating ACC family
Who cannot join
- No ACC unaffected individuals only as part of a participating ACC family
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
University of Connecticut Health Center
Farmington, Connecticut, 06030
Ernst J Reichenberger, PhD, 860-679-2062, reichenberger@uchc.edu
About this study
Official title: Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
Read the detailed description
Aplasia cutis congenita (ACC) or congenital scalp defect is a very rare disorder that affects bone and skin. The definition for ACC is the localized absence of (normal) skin at the time of birth (congenital). The skin appears thinner and the underlying structures are visible. We study mostly the isolated form of ACC with the lesion often being at the vertex of the skull (at or close to the top of the skull). The bone underlying the lesion is sometimes thinner as well.
For this study we will:
- Send out study participation kits and consent by phone
- Collect a saliva sample from eligible individuals
- Obtain information regarding ACC
- Document disorder with photos and doctor's letters
- If patients undergo surgery for ACC we ask to obtain some tissue that would otherwise be discarded
- Isolate DNA from the saliva sample
- Perform genetic analyses of the DNA with the most up-to-date methods available to identify genetic variations
- Study in the laboratory why the genetic variations cause the disorder
- Conditions
- Aplasia Cutis Congenita
- Keywords
- Aplasia cutis congenita, bone, osteoblast, osteoclast, skin
- Medical subject headings
- Ectodermal Dysplasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| affected, unaffected | Individuals with diagnosed ACC |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of genetic elements
The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.
Measured: at time of identification
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jun 2012 (estimated)
- Study startApr 2009
- Primary completionDec 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Aplasia Cutis CongenitaStudies 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Lead sponsor
- UConn Health
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ernst Reichenberger, UConn Health
- Investigators
- Ernst J Reichenberger, PhD, Principal investigator, UConn Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01630421
- Sponsor's protocol ID
- UCHC03-008ACC
- Acronym
- ACC
- Status last verified
- Apr 2026
- First submitted
- 25 Jun 2012
- Last updated
- 15 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
Levine SM, Reformat DD, Thorne CH. Cutis aplasia: perioperative management and case report. Am J Crit Care. 2012 May;21(3):212-5. doi: 10.4037/ajcc2012904.
PubMed 22549580
Study at a glance
From the registry record, last updated by the sponsor on 15 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
- ClinicalTrials.gov ID
- NCT01630421
- Acronym / sponsor ID
- ACC / UCHC03-008ACC
- Conditions
- Aplasia Cutis Congenita
- Keywords
- Aplasia cutis congenita, bone, osteoblast, osteoclast, skin
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- UConn HealthUniversity, hospital or other
- Study start
- Apr 2009
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 28 Jun 2012 (estimated)
- 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 research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
Detailed description
Aplasia cutis congenita (ACC) or congenital scalp defect is a very rare disorder that affects bone and skin. The definition for ACC is the localized absence of (normal) skin at the time of birth (congenital). The skin appears thinner and the underlying structures are visible. We study mostly the isolated form of ACC with the lesion often being at the vertex of the skull (at or close to the top of the skull). The bone underlying the lesion is sometimes thinner as well.
For this study we will:
- Send out study participation kits and consent by phone
- Collect a saliva sample from eligible individuals
- Obtain information regarding ACC
- Document disorder with photos and doctor's letters
- If patients undergo surgery for ACC we ask to obtain some tissue that would otherwise be discarded
- Isolate DNA from the saliva sample
- Perform genetic analyses of the DNA with the most up-to-date methods available to identify genetic variations
- Study in the laboratory why the genetic variations cause the disorder
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| affected, unaffected | – | –Individuals with diagnosed ACC |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with diagnosed ACC
Key inclusion criteria (1 listed)
- ACC; unaffected individuals only if part of a participating ACC family
Key exclusion criteria (1 listed)
- No ACC unaffected individuals only as part of a participating ACC family
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
Identification of genetic elements
Time frame: at time of identification
The goal is to identify relevant genes or genetic elements that cause the disease or contribute to the disease progression and severity.
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 15 Apr 2026.
- Background: PubMed 22549580Levine SM, Reformat DD, Thorne CH. Cutis aplasia: perioperative management and case report. Am J Crit Care. 2012 May;21(3):212-5. doi: 10.4037/ajcc2012904.
- Brief descriptionLink provided by the sponsor.
- Reichenberger lab research informationLink provided by the sponsor.
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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.
Ernst J Reichenberger, PhD principal investigator
UConn Health
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 Aplasia Cutis Congenita, run by UConn Health 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 15 Apr 2026. 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 Ernst J Reichenberger, PhD (860-679-2062, reichenberger@uchc.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of genetic elements (time frame: at time of identification). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01630421, which also lists 1 linked publication.
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 15 Apr 2026.