This site became the new on June 19th. Learn more.
Show more Menu IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu IMPORTANT: Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu
Give us feedback

Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease

This study has been completed.
University of Pavia
Azienda Ospedaliera di Padova
Azienda Ospedaliera di Perugia
Fondazione Telethon
Information provided by:
IRCCS Policlinico S. Matteo Identifier:
First received: May 28, 2010
Last updated: July 22, 2011
Last verified: July 2010
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 Intervention Phase
Blood Platelet Disorders Drug: eltrombopag Phase 2

Study Type: Interventional
Study Design: 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

Resource links provided by NLM:

Further study details as provided by IRCCS Policlinico S. Matteo:

Primary Outcome Measures:
  • 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:
  • 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).

  • 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.

  • 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

Enrollment: 12
Study Start Date: January 2009
Study Completion Date: June 2010
Primary Completion Date: June 2010 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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


Ages Eligible for Study:   16 Years and older   (Child, Adult, Senior)
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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01133860

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
Principal Investigator: Carlo Balduini, MD IRCCS Policlinico San Matteo Foundation, Pavia, Italy
  More Information


Publications automatically indexed to this study by Identifier (NCT Number):
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     History of Changes
Other Study ID Numbers: Eltrombopag-MYH9-2008
Study First Received: May 28, 2010
Results First Received: June 22, 2011
Last Updated: July 22, 2011

Keywords provided by IRCCS Policlinico S. Matteo:
inherited thrombocytopenia
MYH9 mutations

Additional relevant MeSH terms:
Blood Platelet Disorders
Hematologic Diseases processed this record on August 18, 2017