How I approach: Previously untreated patients with severe congenital hemophilia A

Thornburg, Courtney D.

doi:10.1002/pbc.27466

Cited by 4 publications

(6 citation statements)

References 48 publications

(79 reference statements)

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“…We always inform the parents about the main character of the disease, namely that HA and, especially SHA, is a rare and chronic disease. Until no further treatment options are available, in PUPs with SHA, economical 33,36 replacement of the missing factor (referring to prophylaxis as standard) 24,25 is the state-ofthe-art treatment to prevent spontaneous-or trauma-induced bleeding (e.g. ICH), 8,9,23 to prevent the development of early haemophilic arthropathy 4 and to reduce inhibitor risk.…”

Section: Resultsmentioning

confidence: 99%

“…Investigation of genetic mutation, mutation-associated risks, 21 genetic family counselling, 33,34 prenatal options 33 The manifestation of bleeds, differentiation of bleeds, trauma-induced Differentiation of bleeds (severe/not severe/occult) and first-aid measures in case of bleeds 1,4,[8][9][10]23,32 Provide mobile number of on-call physician 24/7 34 Treatmenteducation/information Home therapy, self-administration of FVIII concentrates, documentation of product use, details of the product (German Transfusion Act) and bleeds [32][33][34][35] The benefit of treatment with FVIII concentrates; prophylaxis vs. on-demand treatment 24,25 Inhibitor risk, 26 ITT, the burden for the family 27 New products, extended half-life FVIII, Emicizumab, clinical trials need to be discussed in detail ('challenges associated') Subcutaneous vaccinations 36 Treatment beside factor substitution (e.g. physical therapy, pain management) 32,34,36 (Continued)…”

Section: Geneticsmentioning

confidence: 99%

“…New treatment options Inform about anti-TFPI, Fitusiran and gene-therapy clinical trials 41 Discuss Emicizumab's use in paediatrics (no data for patients <1 year of age in SmPC, 28 haemostatic system of this patient group not fully developed, 28,47 monitoring is challenging) 28,[42][43][44][45][46]48,50 Conclusion Treatmenteconomic aspects Inform about careful and economical use of factor product 33,36 Medical, other Explain the sense of having contact details of other (external) physicians involved, such as general practitioner, paediatrician, dentist, ear, nose and throat specialist, other 34…”

Section: Virus Safety Of Clotting Factor Concentratesmentioning

confidence: 99%

“…Provide the contact details for contact person(s) of patient organization(s) 32,36 Highlight group-fostering activities such as haemophilia camps, meetings of parents of children with haemophilia and other initiatives Abbreviations: FVIII, factor VIII; ICH, intracranial haemorrhage; ITT, immune tolerance therapy; MASAC, Medical and Scientific Advisory Council; PUP, previously untreated patient; SIPPET, Survey of Inhibitors in Plasma-Product Exposed Toddlers; SmPC, summary of product characteristics; TFPI, tissue factor pathway inhibitor; VWF, von Willebrand factor. and joints.…”

Section: Networkmentioning

confidence: 99%

“…35 Explaining the requirements needed to be present at the centre for receiving the EHTC or EHCCC status is an excellent opportunity to bring the 'team' (family and centre staff) together (shared decision making). 36 Challenges Associated with Counselling -…”

Section: Counselling Of Parents Of a Newly Diagnosed Boy With Haemophmentioning

confidence: 99%

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How Do I Counsel Parents of a Newly Diagnosed Boy with Haemophilia A?

Kurnik¹,

Bidlingmaier²,

Olivieri³

2020

Hamostaseologie

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With the recent approval of improved therapeutic options for patients suffering from haemophilia A such as the extended half-life, recombinant factor concentrates, non-factor VIII replacement therapies like Emicizumab and after consideration of the currently running clinical trials investigating even more advanced approaches, counselling of parents of a newly diagnosed boy with haemophilia A has not become less demanding. Parents need to be informed about the pathophysiology, the chronic nature and the potential risks that are commonly associated with this disease and its treatment, depending on disease severity. Above all, the safety and efficacy of the medicinal drug(s) to be used are of utmost importance, given the impact of non-virus-inactivated plasma-derived factor concentrates in the 1980s. As a consequence, the subsequent development and registration of recombinant clotting factors from mammalian, and recently, even human, cell cultures are seen by many as a breakthrough, although, regarding the product-type-dependent development of inhibitors in previously untreated patients, the discussion is still open. Clinical data for the humanised bispecific antibody Emicizumab in paediatric patients below 2 years of age without inhibitors who suffer from severe haemophilia A are currently limited.

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Section: Resultsmentioning

confidence: 99%

Section: Geneticsmentioning

confidence: 99%

Section: Virus Safety Of Clotting Factor Concentratesmentioning

confidence: 99%

Section: Networkmentioning

confidence: 99%

Section: Counselling Of Parents Of a Newly Diagnosed Boy With Haemophmentioning

confidence: 99%

See 3 more Smart Citations

How Do I Counsel Parents of a Newly Diagnosed Boy with Haemophilia A?

Kurnik¹,

Bidlingmaier²,

Olivieri³

2020

Hamostaseologie

View full text Add to dashboard Cite

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Expert opinion paper on the treatment of hemophilia A with emicizumab

López-Jaime

Hidalgo

Jordán³

et al. 2023

Hematology

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Considerations for shared decision management in previously untreated patients with hemophilia A or B

Astermark

Blatny

Königs

et al. 2023

Therapeutic Advances in Hematology

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Recent advances in therapeutics are now providing a wide range of options for adults and children living with hemophilia. Although therapeutic choices are also increasing for the youngest individuals with severe disease, challenges remain about early management decisions, as supporting data are currently limited. Parents and healthcare professionals are tasked with helping children achieve an inclusive quality of life and maintain good joint health into adulthood. Primary prophylaxis is the gold standard to optimize outcomes and is recommended to start before 2 years of age. A range of topics need to be discussed with parents to aid their understanding of the decisions they can make and how these will affect the management of their child/children. For those with a family history of hemophilia, prenatal considerations include the possibility of genetic counseling, prenatal investigations, and planning for delivery, together with monitoring of the mother and neonate, as well as diagnosis of the newborn and treatment of any birth-associated bleeding. Subsequent considerations, which are also applicable to families where infant bleeding has resulted in a new diagnosis of sporadic hemophilia, involve explaining bleed recognition and treatment options, practical aspects of initiating/continuing prophylaxis, dealing with bleeds, and ongoing aspects of treatment, including possible inhibitor development. Over time, optimizing treatment efficacy, in which individualizing therapy around activities can play a role, and long-term considerations, including retaining joint health and tolerance maintenance, become increasingly important. The evolving treatment landscape is creating a need for continually updated guidance. Multidisciplinary teams and peers from patient organizations can help provide relevant information. Easily accessible, multidisciplinary comprehensive care remains a foundation to care. Equipping parents early with the knowledge to facilitate truly informed decision-making will help achieve the best possible longer-term health equity and quality of life for the child and family living with hemophilia. Plain language summary Points to be taken into account to help families make decisions to best care for children born with hemophilia Medical advances are providing a range of treatment options for adults and children with hemophilia. There is, however, relatively limited information about managing newborns with the condition. Doctors and nurses can help parents to understand the choices for infants born with hemophilia. We describe the various points doctors and nurses should ideally discuss with families to enable informed decision-making. We focus on infants who require early treatment to prevent spontaneous or traumatic bleeding (prophylaxis), which is recommended to start before 2 years of age. Families with a history of hemophilia may benefit from discussions before pregnancy, including how an affected child would be treated to protect against bleeds. When mothers are pregnant, doctors can explain investigations that can provide information about their unborn child, plan for the birth, and monitor mother and baby to minimize bleed risks at delivery. Testing will confirm whether the baby is affected by hemophilia. Not all infants with hemophilia will be born to families with a history of the condition. Identification of hemophilia for the first time in a family (which is ‘sporadic hemophilia’) occurs in previously undiagnosed infants who have bleeds requiring medical advice and possibly hospital treatment. Before any mothers and babies with hemophilia are discharged from hospital, doctors and nurses will explain to parents how to recognize bleeding and available treatment options can be discussed. Over time, ongoing discussions will help parents to make informed treatment decisions: • When and how to start, then continue, prophylaxis. • How to deal with bleeds (reinforcing previous discussions about bleed recognition and treatment) and other ongoing aspects of treatment. ○ For instance, children may develop neutralizing antibodies (inhibitors) to treatment they are receiving, requiring a change to the planned approach. • Ensuring treatment remains effective as their child grows, considering the varied needs and activities of their child.

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How I approach: Previously untreated patients with severe congenital hemophilia A

Cited by 4 publications

References 48 publications

How Do I Counsel Parents of a Newly Diagnosed Boy with Haemophilia A?

How Do I Counsel Parents of a Newly Diagnosed Boy with Haemophilia A?

Expert opinion paper on the treatment of hemophilia A with emicizumab

Considerations for shared decision management in previously untreated patients with hemophilia A or B

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