Primary Ciliary DyskinesiaNCT01070914
Early Detection and Characterization of Primary Ciliary Dyskinesia
An observational study of Primary Ciliary Dyskinesia, run by Ziv Hospital at 1 site in Israel.
Trial summary
Primary Ciliary Dyskinesia (PCD) is a severe genetic disorder caused by various mutations in genes affecting ciliary motility. Various new and complementary diagnostic techniques, including measurements of nasal nitric oxide (NO), Video Microscopy (VM), Immunoflourescence (IF) and genetic analysis have recently been… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Primary Ciliary Dyskinesia
- How many people
- 130 participants
- Where
- 1 siteIsrael
- Study dates
- Jun 2011to Jun 2013
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Residents of Israel
Who may be able to join
- Patients with PCD diagnosis
- Subjects with suspected diagnosis of PCD
Who cannot join
- Subjects Uncooperative with study procedures
Trial locations and contacts
1 site in 1 country.
Israel1 site, 1 recruiting
- Recruiting
Ziv Medical center
Safed, 13100
Israel Amirav, MD
About this study
Official title: The Israeli National Consortium for Early Detection and Characterization of Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia (PCD) is a severe genetic disorder caused by various mutations in genes affecting ciliary motility. Various new and complementary diagnostic techniques, including measurements of nasal nitric oxide (NO), Video Microscopy (VM), Immunoflourescence (IF) and genetic analysis have recently been recognized as simpler and more accurate modalities for the diagnosis and characterization of patients with PCD compared to electron microscopy. While considered a rare disease worldwide, PCD is more prevalent among highly consanguineous populations, such as those found in Israel. We hypothesize that using modern state of the art and novel test modalities on a national scale in Israel will improve diagnosis, improve phenotypic-genotypic correlations and create a national registry for PCD.
Read the detailed description
Primary Ciliary Dyskinesia (PCD) is a severe genetic disorder caused by various mutations in genes affecting ciliary motility. While diagnosis of PCD in Israel is currently based for the most part on electron microscopy (EM) detection of ciliary ultrastructural defects, this technique may be unsatisfactory and does not overcome the inherent heterogeneity. Thus, late and under-diagnosis and suboptimal characterization of patients is common. Various newer and complementary diagnostic techniques, including measurements of nasal nitric oxide (NO), Video Microscopy (VM), Immunoflourescence (IF) and genetic analysis have recently been recognized as simpler and more accurate modalities for the diagnosis and characterization of patients with PCD. While considered a rare disease worldwide, PCD is more prevalent among highly consanguineous populations, such as those found in Israel. Given the rarity of cases particularly familial ones, the most useful implementation of new diagnostic techniques requires multicenter collaboration.
We hypothesize that using modern state of the art and novel test modalities on a national scale in Israel will improve diagnosis, improve phenotypic-genotypic correlations and create a national registry for PCD.
We propose to perform such a multicenter study whose aims are:
- To characterize the complex phenotype and genotype of PCD in Israel, using state-of-the-art and novel diagnostic techniques.
- To create a national registry of patients and families with PCD in Israel
- To develop robust national standards of diagnosis and evaluation, which will lead to better and earlier diagnosis, treatment and counseling.
- Conditions
- Primary Ciliary Dyskinesia
- Keywords
- Cilia, Phenotyping, Diagnosis, Nitric Oxide, Bronchiectasis
- Medical subject headings
- Ciliary Motility Disorders, Disease, Bronchiectasis
What is being measured
The primary outcome is the main question the study is designed to answer.
Phenotypic and genetic characterization
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Feb 2010 (estimated)
- Study startJun 2011
- Primary completionDec 2012 (estimated)
- Study completionJun 2013 (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 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 130 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ziv Hospital
- Sponsor type
- Other government
- Collaborators
- Rambam Health Care Campus, Hadassah Medical Organization, Tel-Aviv Sourasky Medical Center, Sheba Medical Center, Assaf-Harofeh Medical Center, The Nazareth Hospital, Israel, Soroka University Medical Center, Shaare Zedek Medical Center, Schneider Children's Medical Center, Israel
- Responsible party
- Sponsor
- Investigators
- Israel Amirav, MD, Principal investigator, Ziv Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01070914
- Sponsor's protocol ID
- Hackmon-2
- Status last verified
- May 2012
- First submitted
- 6 Feb 2010
- Last updated
- 8 May 2012
- Results posted
- No
- Data monitoring committee
- No
Publications
Amirav I, Mussaffi H, Roth Y, Schmidts M, Omran H, Werner C; Israeli PCD Consortium Investigators. A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis. BMC Res Notes. 2015 Mar 8;8:71. doi: 10.1186/s13104-015-0999-x.
PubMed 25869032
Study at a glance
From the registry record, last updated by the sponsor on 8 May 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Israeli National Consortium for Early Detection and Characterization of Primary Ciliary Dyskinesia
- ClinicalTrials.gov ID
- NCT01070914
- Acronym / sponsor ID
- Hackmon-2
- Conditions
- Primary Ciliary Dyskinesia
- Keywords
- Cilia, Phenotyping, Diagnosis, Nitric Oxide, Bronchiectasis
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 130 participants (estimated)
- Lead sponsor
- Ziv HospitalOther government
- Collaborators
- Rambam Health Care Campus, Hadassah Medical Organization, Tel-Aviv Sourasky Medical Center, Sheba Medical Center, Assaf-Harofeh Medical Center, The Nazareth Hospital, Israel, Soroka University Medical Center, Shaare Zedek Medical Center, Schneider Children's Medical Center, Israel
- Study start
- Jun 2011
- Primary completion
- Dec 2012 (estimated)
- Study completion
- Jun 2013 (estimated)
- First posted
- 18 Feb 2010 (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.
Primary Ciliary Dyskinesia (PCD) is a severe genetic disorder caused by various mutations in genes affecting ciliary motility. Various new and complementary diagnostic techniques, including measurements of nasal nitric oxide (NO), Video Microscopy (VM), Immunoflourescence (IF) and genetic analysis have recently been recognized as simpler and more accurate modalities for the diagnosis and characterization of patients with PCD compared to electron microscopy. While considered a rare disease worldwide, PCD is more prevalent among highly consanguineous populations, such as those found in Israel. We hypothesize that using modern state of the art and novel test modalities on a national scale in Israel will improve diagnosis, improve phenotypic-genotypic correlations and create a national registry for PCD.
Detailed description
Primary Ciliary Dyskinesia (PCD) is a severe genetic disorder caused by various mutations in genes affecting ciliary motility. While diagnosis of PCD in Israel is currently based for the most part on electron microscopy (EM) detection of ciliary ultrastructural defects, this technique may be unsatisfactory and does not overcome the inherent heterogeneity. Thus, late and under-diagnosis and suboptimal characterization of patients is common. Various newer and complementary diagnostic techniques, including measurements of nasal nitric oxide (NO), Video Microscopy (VM), Immunoflourescence (IF) and genetic analysis have recently been recognized as simpler and more accurate modalities for the diagnosis and characterization of patients with PCD. While considered a rare disease worldwide, PCD is more prevalent among highly consanguineous populations, such as those found in Israel. Given the rarity of cases particularly familial ones, the most useful implementation of new diagnostic techniques requires multicenter collaboration.
We hypothesize that using modern state of the art and novel test modalities on a national scale in Israel will improve diagnosis, improve phenotypic-genotypic correlations and create a national registry for PCD.
We propose to perform such a multicenter study whose aims are:
- To characterize the complex phenotype and genotype of PCD in Israel, using state-of-the-art and novel diagnostic techniques.
- To create a national registry of patients and families with PCD in Israel
- To develop robust national standards of diagnosis and evaluation, which will lead to better and earlier diagnosis, treatment and counseling.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Residents of Israel
Key inclusion criteria (2 listed)
- Patients with PCD diagnosis
- Subjects with suspected diagnosis of PCD
Key exclusion criteria (1 listed)
- Subjects Uncooperative with study procedures
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
Phenotypic and genetic characterization
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 May 2012.
- Derived from this study: PubMed 25869032Amirav I, Mussaffi H, Roth Y, Schmidts M, Omran H, Werner C; Israeli PCD Consortium Investigators. A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis. BMC Res Notes. 2015 Mar 8;8:71. doi: 10.1186/s13104-015-0999-x.
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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.
Israel Amirav, MD principal investigator
Ziv Medical Center
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 Ziv Hospital at 1 site in Israel.
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 2 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: status not confirmed, as of the sponsor's last update on 8 May 2012. 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 Israel. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Israel Amirav, MD (97246828712, amirav@012.net.il), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Phenotypic and genetic characterization (time frame: 2 years). 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 NCT01070914, 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 8 May 2012.