Wiskott-Aldrich Syndrome
Conditions
Brief summary
The rationale for this retrospective study is to evaluate the efficacy and safety of thrombopoietin-receptor agonist (TPO-RA) romiplostim for reducing thrombocytopenia and bleeding tendency in pediatric participants with genetically confirmed Wiskott-Aldrich syndrome (WAS).
Detailed description
Thrombocytopenia is a life-threatening symptom in WAS patients. Subjects with WAS are at increased risk of debilitating and\\ or life-threatening bleedings due to low platelet numbers. Hematopoietic stem cell transplantation is an effective treatment of WAS and all its symptoms yet requires time for donor search and is not widely utilized in cases with mild WAS with isolated thrombocytopenia. TPO-RAs have been used in individual WAS patients, wherein publications describing large WAS cohorts treated with TPO-RAs are lacking. Based on the previous reports, WAS patients in our Center have been receiving treatment with TPO-RA romiplostim since 2012. The aim of the study is to retrospective analyze patients' data in order to asses treatment efficacy and safety of romiplostim in WAS thrombocytopenia. The study will collect and analyze information that is already in the patients' medical records. Information about clinical data (assessment of bleeding tendency with a modified World Health Organization (WHO) Bleeding Scale), laboratory values (such as clinical and biochemical analysis of blood) will be included. Evaluation of the efficacy therapy was based on the results of physical examination, including bleeding events at the time of diagnosis and after 6-month TPO-RA was initiated and platelet response. A complete response was defined as a platelet count \>100 x 109/L in the absence of bleeding symptoms, partial - 30 x 109/L higher than the patient's pretreatment baseline count to 100 x 109/L. Non-response was defined as not achieving a platelet count of \> 30 x 109/L from the baseline count.
Interventions
DRUGRomiplostim
romiplostim once weekly subcutaneously at an initial dose of 8-9 µg/kg per week for at least 1 month to 1 year.
Sponsors
Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
Inclusion criteria
* Age under \< 18 years * Subject/legal representative has signed written informed consent. ? * Subjects diagnosed with WAS based on genetic findings. * Subjects with thrombocytopenia (platelet count of less than 70 x 109/L). * Subjects with a history of bleeding. * Subjects received treatment with romiplostim 8-9 µg /kg for at least 30 days * Available records of the points of analysis
Exclusion criteria
• Patients, who do not meet the inclusion criteria.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The percentage of participants with overall platelet response (complete response + partial response) | 1 month (30 day +/- 14 days) | A complete response defined as a platelet count \>100 x 109/L, partial - 30 x 109/L higher than the patient's pretreatment baseline count to 100 x 109/L. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Percentage of patients with a platelet response | until discontinuation, from at least one month to one year | — |
| Number of participants with bleeding events and severity of bleeding | until discontinuation, from at least one month to one year | The incidence and severity of bleeding events evaluated with a modified World Health Organization (WHO) Bleeding Scale. (G1=Petechiae, epistaxis \<30 min, G2=Mild blood loss, hematomas, epistaxis \>30 min, melanotic stool G3=Gross blood loss, requiring blood transfusions, G4=Fatal bleeding). |
| Number of participants with adverse events | until discontinuation, from at least one month to one year | — |
Countries
Russia
Outcome results
None listed