Initial Evaluation of the Pediatric PROMIS® Health Domains in Children and Adolescents With Sickle Cell Disease: Pediatric PROMIS in SCD

The Patient Reported Outcomes Measurement Information System (PROMIS®) has developed pediatric self-report scales measuring several unidimensional health attributes (domains) suitable for use in clinical research, but these measures have not yet been validated in sickle cell disease (SCD)

Etranacogene dezaparvovec for hemophilia B gene therapy

The treatment landscape for hemophilia has been rapidly changing with introduction of novel therapies. Gene therapy for hemophilia is a promising therapeutic option for sustained endogenous factor production to mitigate the need for prophylactic treatment to prevent spontaneous and traumatic bleeding. Etranacogene dezaparvovec is an investigational factor IX (FIX) gene transfer product that utilizes the adeno-associated virus (AAV) 5 vector with a liver-specific promoter and a hyperactive FIX transgene. Here, the development of etranacogene dezaparvovec and available efficacy and safety data from clinical trials are reviewed. Overall, etranacogene dezaparvovec provides sustained FIX expression for more than 2 years and allows for a bleed and infusion-free life in the majority of patients. Safety, efficacy, and quality-of-life data will inform shared decision-making for patients who are considering gene therapy. Long-term follow-up regarding duration of expression and safety are crucial

Gene Therapy for Hemophilia A: A Mixed Methods Study of Patient Preferences and Shared Decision-Making

PurposeAs gene therapies for hemophilia are incorporated into clinical practice, shared decision-making (SDM) is recommended for implementation. SDM tools may facilitate informed decision-making for gene therapy and other novel therapies.ObjectiveTo inform the development of SDM tools for hemophilia gene therapy.Patients and methodsMen with severe hemophilia were recruited from the National Hemophilia Foundation (NHF) Community Voices in Research (CVR). Semi-structured interviews were completed, and the interviews were transcribed verbatim for quantitative and qualitative analysis.ResultsTwenty-five men with severe hemophilia A participated. All participants reported treatment with prophylaxis, nine (36%) on continuous prophylaxis with clotting factor, one (4%) on intermittent prophylaxis with clotting factor, and 15 (60%) on continuous prophylaxis with emicizumab. Ten (40%) indicated that they are excited about gene therapy, 12 (48%) indicated that they are hopeful about gene therapy, one (4%) indicated that they are worried or scared about gene therapy, and one (4%) indicated that they do not have strong feelings about gene therapy. Participants reported engaging Hemophilia Treatment Center, family, and the hemophilia community in their decision-making process. The most reported information needs are efficacy, safety, cost/insurance, mechanism of action, and follow-up. In addition, key information themes that emerged were patient testimonials, hard data and statistics, and comparison to other products. Twenty-two (88%) indicated that a SDM tool would be useful when discussing gene therapy with their hemophilia team. Two indicated that they do their own research, and the tool would not add anything. One needed more information to provide an answer.ConclusionThese data highlight the utility of a SDM tool for hemophilia gene therapy and key information needs. Data including comparison to other treatments should be provided along with patient testimonials in a transparent format. Patients will engage the Hemophilia Treatment Center, family, and community members in the decision-making process

Treatment adherence in hemophilia.

Prophylactic clotting-factor regimens reduce the occurrence of bleeding episodes and maintain joint health in individuals with moderate and severe hemophilia. However, these outcomes are only achieved with adherence to prescribed prophylaxis regimens. There are several types of barriers to adherence related to key patient, condition, treatment, health-care system, and/or socioeconomic variables. Notably, health-care professionals may not prescribe prophylaxis if they perceive that a patient will be nonadherent. Prophylactic treatment strategies should be developed with the patient and family, focused on individualized treatment goals. Personalized strategies are needed to reinforce the importance of and encourage confidence in administering the regular infusions required for prophylactic therapy. These strategies may include verbal and written information delivered by health-care professionals, peers, and inter-active media. The advent of extended half-life clotting factors requiring less frequent infusion may improve adherence

Venous Thromboembolism in Children with Cancer and Blood Disorders.

Venous thromboembolism (VTE) in children is multifactorial and most often related to a combination of inherited and acquired thrombophilias. Children with cancer and blood disorders are often at risk for VTE due to disease-related factors such as inflammation and abnormal blood flow and treatment-related factors such as central venous catheters and surgery. We will review risk factors for VTE in children with leukemia, lymphoma, and solid tumors. We will also review risk factors for VTE in children with blood disorders with specific focus on sickle cell anemia and hemophilia. We will present the available evidence and clinical guidelines for prevention and treatment of VTE in these populations

Treatment adherence in hemophilia

Prophylactic clotting-factor regimens reduce the occurrence of bleeding episodes and maintain joint health in individuals with moderate and severe hemophilia. However, these outcomes are only achieved with adherence to prescribed prophylaxis regimens. There are several types of barriers to adherence related to key patient, condition, treatment, health-care system, and/or socioeconomic variables. Notably, health-care professionals may not prescribe prophylaxis if they perceive that a patient will be nonadherent. Prophylactic treatment strategies should be developed with the patient and family, focused on individualized treatment goals. Personalized strategies are needed to reinforce the importance of and encourage confidence in administering the regular infusions required for prophylactic therapy. These strategies may include verbal and written information delivered by health-care professionals, peers, and inter-active media. The advent of extended half-life clotting factors requiring less frequent infusion may improve adherence

The role of patient and healthcare professionals in the era of new hemophilia treatments in developed and developing countries.

Medical decisions in hemophilia care are primarily related to the type of factor replacement and treatment regimen. With the growing number of treatment options for patients with hemophilia, decision making is more complex and requires careful consideration of benefits, risks, and patient goals. Shared decision making and decision-aid tools facilitate patient and healthcare provider communication. In this review, the overall role of shared decision making in medicine is outlined, with special emphasis on models for practical implementation. Examples of shared decision making in hemophilia are outlined, and application to new therapeutics is discussed through a case-based approach