May-HemalinMAGIC-MYH9NCT00925236
Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia
An observational study of May-Hemalin and Fechtner Syndrome (Disorder), run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
The research involves the establishment of a cohort including as much as possible cases of macrothrombocytopenia related to a "MYH9 syndrome" and the study of mutations and polymorphisms of MYH9 gene in all these patients. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- May-Hemalin, Fechtner Syndrome (Disorder), Epstein Syndrome (Disorder)
- How many people
- 360 participants
- Where
- 1 siteFrance
- Study dates
- Aug 2009to Jul 2015
- 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
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: defined population
Who may be able to join
- Thrombocytopenia with large/giant platelets (macrothrombocytopenia=MT)
- and at least one of the following criteria:
- chronicity of the MT or MT at least found at 2 successive examinations
- Leukocyte inclusions in polymorphonuclear neutrophils
- Juvenile sensorineural hearing loss
- Nephritis
Show all 10Show fewer
- Presenile cataracts
- Familial cases with bleeding disorder associated at least with one of the following symptoms: thrombocytopenia, nephritis, cataracts, deafness, leukocyte inclusions in polymorphonuclear neutrophils
- Patient who has given his consent
- Patient who has a social insurance -
Who cannot join
- Other proven constitutional macrothrombocytopenia
Trial locations and contacts
1 site in 1 country.
About this study
The research involves the establishment of a cohort including as much as possible cases of macrothrombocytopenia related to a "MYH9 syndrome" and the study of mutations and polymorphisms of MYH9 gene in all these patients. As MYH9 syndrome is an autosomal dominant disorder, patients should be heterozygous for a MYH9 gene mutation.
The main goal of our project is looking for correlations between genotype and phenotype. It is planned to characterize the phenotype and genotype of a cohort of patients, including family members that will be addressed during the study in order to better understand the platelet disorder and improve the epidemiological knowledge of MYH9 syndrome. The data will be recorded in a database.
Read the detailed description
Definition: Extended description of the protocol, including information not already contained in other fields, such as comparison(s) studied. The patients that will participate in the study will be suffering or suspected suffering from MYH9 syndrome.
The study of MYH9 gene will be proposed to the patients but also to both parents of the propositi and other family members (children and adults), whether symptomatic or not. The relatives who will be proved to be heterozygotes for a MYH9 mutation will be considered as new cases and therefore included in the cohort of patients.
Four groups of controls (individuals who are not affected by a decrease in the platelet count) will be constituted:
A1: controls for proplatelets production study A2: controls for platelet proteome study B: controls for MYH9 gene analysis C: controls for leukocytes immunofluorescence study
Patients Patients will be included at the 6 sites of the national Reference Center for Inherited Platelet Disorders (CRPP) after signing an informed consent form. During the visit of inclusion (V1), data usually required for the diagnosis of MYH9 syndrome will be collected: clinical examination, auditory and ocular check, blood tests including MYH9 gene analysis, and search for proteinuria.
Among patients with a MYH9 mutation, a limited number will be recruited in a second step for participating to specific studies focused on the consequences of MYH9 mutations on the proplatelets production and the platelet proteome. The selected patients should be representative of the different phenotypes of MYH9 syndrome. They should be adults and have a platelet count above 50 G / L. A blood sample will be drawn for this purpose during a second visit (V2).
An annual control will be offered at year 1, year 2 and year 3 after inclusion to all the patients confirmed to have MYH9 syndrome (with MYH9 mutation). Each control will include: clinical examination and record of bleeding episodes, if any, during the past year, blood tests, search for proteinuria. The last control (end of the study) will also include auditory and ocular tests.
Relatives The relatives will be included in the study after signing informed consent form during an inclusion visit (VAP) at one of the 6 sites of CRPP. During the visit, a blood sample will be drawn for platelet and MYH9 gene study.
Controls The controls will be included in the study after signing informed consent at 6 sites of the CRPP. During their inclusion visit (VT), a blood sample will be drawn for platelet and MYH9 gene study.
- Conditions
- May-Hemalin, Fechtner Syndrome (Disorder), Epstein Syndrome (Disorder), MYH9 Related Disorders
- Keywords
- MYH9 gene, macrothrombocytopenia, leukocyte inclusions, cataracts deafness, nephritis, MYH9 Related Disorders
- Medical subject headings
- MYH9-Related Disorders, Nephritis
What is being measured
The primary outcome is the main question the study is designed to answer.
Study of the correlations phenotype - MYH9 genotype of the patients
Measured: final time frame at the end of the study
Secondary outcomes (1)
- Describe the initial clinical symptoms and the long- term evolution of MYH9-related macrothrombocytopenia - Explore the consequences of MYH9 gene mutations on the proplatelets production - Study the effects of MYH9 gene mutations on the platelet
Measured: final time frame at the end of the study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jun 2009 (estimated)
- Study startAug 2009
- Primary completionJul 2015
- Study completionJul 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for May-HemalinStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- 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
- Cohort
- Enrolment
- 360 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Nicole Schlegel, MD,PhD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00925236
- Sponsor's protocol ID
- P070110
- Acronym
- MAGIC-MYH9
- Status last verified
- Jul 2015
- First submitted
- 19 Jun 2009
- Last updated
- 29 Jul 2015
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Jul 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia
- ClinicalTrials.gov ID
- NCT00925236
- Acronym / sponsor ID
- MAGIC-MYH9 / P070110
- Conditions
- May-Hemalin, Fechtner Syndrome (Disorder), Epstein Syndrome (Disorder), MYH9 Related Disorders
- Keywords
- MYH9 gene, macrothrombocytopenia, leukocyte inclusions, cataracts deafness, nephritis, MYH9 Related Disorders
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 360 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Aug 2009
- Primary completion
- Jul 2015 (actual)
- Study completion
- Jul 2015 (actual)
- First posted
- 22 Jun 2009 (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 research involves the establishment of a cohort including as much as possible cases of macrothrombocytopenia related to a "MYH9 syndrome" and the study of mutations and polymorphisms of MYH9 gene in all these patients. As MYH9 syndrome is an autosomal dominant disorder, patients should be heterozygous for a MYH9 gene mutation.
The main goal of our project is looking for correlations between genotype and phenotype. It is planned to characterize the phenotype and genotype of a cohort of patients, including family members that will be addressed during the study in order to better understand the platelet disorder and improve the epidemiological knowledge of MYH9 syndrome. The data will be recorded in a database.
Detailed description
Definition: Extended description of the protocol, including information not already contained in other fields, such as comparison(s) studied. The patients that will participate in the study will be suffering or suspected suffering from MYH9 syndrome.
The study of MYH9 gene will be proposed to the patients but also to both parents of the propositi and other family members (children and adults), whether symptomatic or not. The relatives who will be proved to be heterozygotes for a MYH9 mutation will be considered as new cases and therefore included in the cohort of patients.
Four groups of controls (individuals who are not affected by a decrease in the platelet count) will be constituted:
A1: controls for proplatelets production study A2: controls for platelet proteome study B: controls for MYH9 gene analysis C: controls for leukocytes immunofluorescence study
Patients Patients will be included at the 6 sites of the national Reference Center for Inherited Platelet Disorders (CRPP) after signing an informed consent form. During the visit of inclusion (V1), data usually required for the diagnosis of MYH9 syndrome will be collected: clinical examination, auditory and ocular check, blood tests including MYH9 gene analysis, and search for proteinuria.
Among patients with a MYH9 mutation, a limited number will be recruited in a second step for participating to specific studies focused on the consequences of MYH9 mutations on the proplatelets production and the platelet proteome. The selected patients should be representative of the different phenotypes of MYH9 syndrome. They should be adults and have a platelet count above 50 G / L. A blood sample will be drawn for this purpose during a second visit (V2).
An annual control will be offered at year 1, year 2 and year 3 after inclusion to all the patients confirmed to have MYH9 syndrome (with MYH9 mutation). Each control will include: clinical examination and record of bleeding episodes, if any, during the past year, blood tests, search for proteinuria. The last control (end of the study) will also include auditory and ocular tests.
Relatives The relatives will be included in the study after signing informed consent form during an inclusion visit (VAP) at one of the 6 sites of CRPP. During the visit, a blood sample will be drawn for platelet and MYH9 gene study.
Controls The controls will be included in the study after signing informed consent at 6 sites of the CRPP. During their inclusion visit (VT), a blood sample will be drawn for platelet and MYH9 gene study.
Study design
- Observational model
- Cohort
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- defined population
Key inclusion criteria (10 listed)
- Thrombocytopenia with large/giant platelets (macrothrombocytopenia=MT)
- and at least one of the following criteria:
- Patient who has given his consent
- Patient who has a social insurance -
Key exclusion criteria (1 listed)
- Other proven constitutional macrothrombocytopenia
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
Study of the correlations phenotype - MYH9 genotype of the patients
Time frame: final time frame at the end of the study
1 secondary outcome
- Describe the initial clinical symptoms and the long- term evolution of MYH9-related macrothrombocytopenia - Explore the consequences of MYH9 gene mutations on the proplatelets production - Study the effects of MYH9 gene mutations on the platelet
Time frame: final time frame at the end of the study
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 29 Jul 2015.
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.
Nicole Schlegel, MD,PhD principal investigator
Assistance Publique - Hôpitaux de Paris
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 May-Hemalin and Fechtner Syndrome (Disorder), run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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 10 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: finished, as of the sponsor's last update on 29 Jul 2015. 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 France. 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.
What does the primary outcome measure?
Study of the correlations phenotype - MYH9 genotype of the patients (time frame: final time frame at the end of the study). 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 29 Jul 2015.