Primary Ciliary DyskinesiaNCT00005650
Genetic Study of Patients With Primary Ciliary Dyskinesia
An observational study of Primary Ciliary Dyskinesia, run by National Center for Research Resources (NCRR) at 1 site in United States.
Trial summary
OBJECTIVES: I. Characterize the clinical presentation of patients with primary ciliary dyskinesia. II. Identify the genetic mutations associated with this disease. Read more about this study
- Who is it for?
- Ages 0 years and older
- Conditions the study is for
- Primary Ciliary Dyskinesia
- How many people
- 180 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2000to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
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 0 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
- Histologically or cytologically confirmed primary ciliary dyskinesia (PCD)
- Family members of patients with PCD
Trial locations and contacts
1 site in 1 country.
United States1 site
University of North Carolina School of Medicine
Chapel Hill, North Carolina, 27599-7070
About this study
OBJECTIVES:
- Characterize the clinical presentation of patients with primary ciliary dyskinesia.
II. Identify the genetic mutations associated with this disease.
Read the detailed description
PROTOCOL OUTLINE:
Participants undergo a scrape biopsy acquisition of nasal cells for ciliary studies, a chest radiograph, sinus radiographs, lung function tests, sputum cultures, nitric oxide measurement, and an ear, nose and throat evaluation to screen for primary ciliary dyskinesia (PCD). Blood collection and/or a buccal scrape is also performed for genetic studies.
Genetic studies include molecular linkage analyses, genetic mapping, and gene mutation identification based on large deletions. Microsatellite markers are used to identify polymorphism.
Genetic counseling is provided to all participants.
- Conditions
- Primary Ciliary Dyskinesia
- Keywords
- cardiovascular and respiratory diseases, genetic diseases and dysmorphic syndromes, primary ciliary dyskinesia, rare disease
- Medical subject headings
- Ciliary Motility Disorders, Respiratory Tract Diseases, Genetic Diseases, Inborn, Rare Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 May 2000 (estimated)
- Study startFeb 2000
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary Ciliary DyskinesiaStudies 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
- Natural history
- Enrolment
- 180 participants
Sponsor and investigators
- Lead sponsor
- National Center for Research Resources (NCRR)
- Sponsor type
- US National Institutes of Health
- Collaborators
- University of North Carolina
- Investigators
- Peadar G. Noone, Study chair, University of North Carolina
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00005650
- Sponsor's protocol ID
- NCRR-M01RR00046-1395
- Other IDs
- UNCCH-GCRC-1395
- Status last verified
- Dec 2003
- First submitted
- 2 May 2000
- Last updated
- 24 Jun 2005
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2005. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Study of Patients With Primary Ciliary Dyskinesia
- ClinicalTrials.gov ID
- NCT00005650
- Acronym / sponsor ID
- NCRR-M01RR00046-1395
- Conditions
- Primary Ciliary Dyskinesia
- Keywords
- cardiovascular and respiratory diseases, genetic diseases and dysmorphic syndromes, primary ciliary dyskinesia, rare disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 180 participants
- Lead sponsor
- National Center for Research Resources (NCRR)US National Institutes of Health
- Collaborators
- University of North Carolina
- Study start
- Feb 2000
- First posted
- 3 May 2000 (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.
OBJECTIVES:
- Characterize the clinical presentation of patients with primary ciliary dyskinesia.
II. Identify the genetic mutations associated with this disease.
Detailed description
PROTOCOL OUTLINE:
Participants undergo a scrape biopsy acquisition of nasal cells for ciliary studies, a chest radiograph, sinus radiographs, lung function tests, sputum cultures, nitric oxide measurement, and an ear, nose and throat evaluation to screen for primary ciliary dyskinesia (PCD). Blood collection and/or a buccal scrape is also performed for genetic studies.
Genetic studies include molecular linkage analyses, genetic mapping, and gene mutation identification based on large deletions. Microsatellite markers are used to identify polymorphism.
Genetic counseling is provided to all participants.
Study design
- Observational model
- Natural history
Who may qualify
- Ages
- 0 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
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
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2005.
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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. This study is not recruiting at the moment.
Peadar G. Noone study chair
University of North Carolina
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 Primary Ciliary Dyskinesia, run by National Center for Research Resources (NCRR) 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?
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: finished, as of the sponsor's last update on 24 Jun 2005. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
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 24 Jun 2005.