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Trial record 29 of 473 for:    Inherited Bleeding Disorder

Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01133860
Recruitment Status : Completed
First Posted : May 31, 2010
Results First Posted : July 21, 2011
Last Update Posted : July 26, 2011
University of Pavia
Azienda Ospedaliera di Padova
Azienda Ospedaliera di Perugia
Fondazione Telethon
Information provided by:
IRCCS Policlinico S. Matteo

Brief Summary:
The term MYH9-related disease (MYH9RD) includes four genetic disorders: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome. All these disorders derive from mutation of a unique gene, named MYH9, and they have been recognized as different clinical presentations of a single illness that was named MYH9RD. All patients affected by MYH9RD present since birth with thrombocytopenia, which can result in a variable degree of bleeding diathesis; some of them subsequently develop additional clinical manifestations, such as renal damage, sensorineural hearing loss, and/or presenile cataracts. Eltrombopag is an oral thrombopoietin receptor agonist that stimulates proliferation and differentiation of megakaryocytes, the bone marrow cells that produce blood platelets. This drug is effective in increasing platelet count in healthy volunteers, as well as in patients affected by some acquired thrombocytopenias, such as idiopathic thrombocytopenic purpura and HCV related thrombocytopenia. The purpose of this study is to determine if eltrombopag, administered orally at the dose of 50 or 75 mg/daily for up to 6 weeks, is effective in increasing platelet count of patients affected by MYH9RD. Further aims of this study are to test if eltrombopag is effective in reducing bleeding tendency of MYH9RD patients; to evaluate safety and tolerability of eltrombopag in patients with MYH9RD; to evaluate in vitro function of platelets produced during therapy in patients responding to this drug.

Condition or disease Intervention/treatment Phase
Blood Platelet Disorders Drug: eltrombopag Phase 2

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 12 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: An Exploratory Phase II Dose Escalation Study of Eltrombopag in MYH9 Related Disease
Study Start Date : January 2009
Actual Primary Completion Date : June 2010
Actual Study Completion Date : June 2010

Resource links provided by the National Library of Medicine

Drug Information available for: Eltrombopag

Arm Intervention/treatment
Experimental: eltrombopag Drug: eltrombopag
Eltrombopag, administered orally, 50 mg/daily for 21 days. Patients with platelet counts between 100 and 150x10e9/L at day 21 will continue eltrombopag 50 mg/daily for 21 additional days. Patients with platelet count lower than 100x10e9/L at day 21 will receive eltrombopag 75 mg/daily for additional 21 days. Patients with more than 150x10e9 platelets/L at day 21 will stop therapy.
Other Names:
  • Revolade
  • Promacta

Primary Outcome Measures :
  1. Response to Drug Based on Platelet Count at the End of Therapy [ Time Frame: 21 days and/or 42 days of therapy, 15 and 30 days after the end of therapy ]
    The primary endpoints were the achievement of a platelet count over 100 x10e9/L or at least 3 times the baseline value (major response), or at least twice the baseline value but less than major response (minor response). The overall response to therapy is reported. Platelet count was measured at the end of therapy (21 or 42 days, see study design) by phase-contrast microscopy.

Secondary Outcome Measures :
  1. Bleeding Tendency Assessed by WHO Bleeding Score [ Time Frame: 21 days and/or 42 days of therapy, 15 and 30 days after the end of therapy ]
    The percentage of patients with bleeding diathesis (grade 1, i.e. cutaneous bleeding, or grade 2, i.e. mild blood loss, according to WHO bleeding score) was calculated at baseline and at the end of therapy. The results are expressed as the mean change in the percentage of patients with bleeding diathesis (95%CI).

  2. All Types of Adverse Events [ Time Frame: 21 days and/or 42 days of therapy, 15 and 30 days after the end of therapy ]
    All type of adverse events were registered.Results indicate the number of participants who experience a side effect of the drug.

  3. in Vitro Function of Platelets Produced During Therapy in Responding Patients [ Time Frame: 21 days or 42 days of therapy ]
    in vitro platelet function will be assessed in patients achieving a platelet count of 100 x10e9/L or more at the end of the therapy

Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Age 16 years or more
  • Confirmed diagnosis of MYH9-related disease
  • Average platelet count for the previous year less than 50x10e9/L
  • Written informed consent

Exclusion Criteria:

  • Diseases known to involve the risk of thromboembolic events (e.g. atrial fibrillation)
  • History of thrombosis within 1 year
  • Use of drugs that affect platelet function (including but not limited to, aspirin, clopidogrel or NSAIDS) or anti-coagulants
  • Females who are pregnant or nursing (a negative pregnancy test in required before enrollment of fertile women)
  • Formal refusal of any recommendation of a safe contraception
  • Alcohol or drug addiction
  • Altered renal function as defined by creatinine of 20 mg/L or more
  • Any other disease or condition that by the advise of the responsible physician would make the treatment dangerous for the patient or would make the patient ineligible for the study, including physical, psychiatric, social and behavioral problems. HCV positivity and liver diseases will not be considered an exclusion criterion since a phase II study showed that eltrombopag was effective and safe in this patient population.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01133860

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Azienda Ospedaliero-Universitaria di Padova, Unità di Medicina Generale e Patologia Speciale
Padova, Italy, 35128
Fondazione IRCCS Policlinico San Matteo, Unità di Medicina III
Pavia, Italy, 27100
Policlinico Monteluce, Sezione di Medicina Interna e Cardiovascolare
Perugia, Italy, 06122
Sponsors and Collaborators
IRCCS Policlinico S. Matteo
University of Pavia
Azienda Ospedaliera di Padova
Azienda Ospedaliera di Perugia
Fondazione Telethon
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Principal Investigator: Carlo Balduini, MD IRCCS Policlinico San Matteo Foundation, Pavia, Italy


Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Prof. Carlo Balduini, Head of the Unit of Internal Medicine III, IRCCS Policlinico San Matteo Foundation, Pavia, Italy, IRCCS Policlinico San Matteo Foundation, Pavia, Italy Identifier: NCT01133860    
Other Study ID Numbers: Eltrombopag-MYH9-2008
First Posted: May 31, 2010    Key Record Dates
Results First Posted: July 21, 2011
Last Update Posted: July 26, 2011
Last Verified: July 2010
Keywords provided by IRCCS Policlinico S. Matteo:
inherited thrombocytopenia
MYH9 mutations
Additional relevant MeSH terms:
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Blood Platelet Disorders
Hematologic Diseases