Learning to Live With Non-severe Haemophilia

While the burden of standard treatment may be reduced through the use of gene therapy, converting those with severe haemophilia to a mild or moderate phenotype, the long-term sequelae of previous joint bleeds and associated limitations imposed on those with severe haemophilia may not translate to lessen the biomedical burden of living with a history of severe haemophilia.

We wish to explore these issues further in the Learning to Live study. The study will also seek to identify the ongoing support needs of those who transition to a milder bleeding phenotype.

Study Overview

• Status: Completed
• Conditions: Hemophilia
• Intervention / Treatment: Behavioral: Questionnaire and interview

Detailed Description

Haemophilia is a rare congenital disorder caused by an inherited genetic defect which affects approximately one in every 5,000 males. Haemophilia A (factor VIII [FVIII] deficiency) occurs in 85% of cases with haemophilia B (factor IX [FIX] deficiency) making up the remainder of affected people. Three severities are reported: "severe" (factor activity is less than 1%), "moderate" (factor activity is 1-5% and "mild" (factor activity is 6-25%).

The aim of haemophilia treatment is to reduce the frequency of bleeds, and consequently morbidity and joint damage, in order to prevent future disability. Historically treatment has been replacement of the missing clotting factor when a bleed occurs (on-demand treatment) or regularly and intermittently (prophylactic treatment). With this in developed countries, life expectancy of persons with haemophilia, is expected to be close to normal. Treatment is burdensome for affected individuals and caregivers with treatment complications, (presence of inhibitors, pain, and arthropathy), psychological (stress and coping, anxiety and depression, stigmatisation and discrimination) and economic aspects.

Whilst those with mild haemophilia usually only experience bleeding with trauma or surgery and are less engaged with haemophilia care, the impact of living with mild haemophilia on quality of life is becoming more recognised and further research within this cohort of people is required.

The present day focus of treatment is on normalising individual's lives and reducing treatment burden by using innovative therapies to limit and/or eliminate bleeding episodes. This results in a cohort of individuals who are now living with a less severe phenotype of haemophilia, who may be less able to recognise and treat bleeds and for whom clinical follow up and outcomes will be considerably different to that of their predecessors.

A holistic approach to follow up is required, and should include patient relevant outcome. Living with mild haemophilia is still limiting and when bleeds occur the impact is not mild; many cannot self-infuse, do not recognise when to attend hospital and suffer pain and mobility issues.

This study, which has been co-created with a person with haemophilia, aims to explore the impact of these new treatments using mixed methods study. This includes quantitative data from patient reported outcome assessment (the PROBE validated haemophilia questionnaire) and through in depth qualitative interviews.

• Study Type: Observational
• Enrollment (Actual): 165

Contacts and Locations

Study Locations

• United Kingdom
  • Oxfordshire
    • Oxford, Oxfordshire, United Kingdom, OX3 9DU
      • Oxford University Hospitals NHS Foundation Trust

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 100 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

People with haemophilia A or B either mild moderate or severe living in the UK.

Description

Inclusion Criteria:

Confirmed diagnosis of haemophilia A or B of any severity

Exclusion Criteria:

Diagnosis of any other bleeding disorder

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To Identify and understand the differences between those with genetically mild/moderate haemophilia and those with previously severe haemophilia who have received phenotype altering treatment	Survey using the validated PROBE questionnaire (using 7 point Likert scale)	3 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To assess the impact of phenotype altering treatments on those who receive them, and to compare this with those people with genetically mild/moderate haemophilia.	Interview	3 months

Collaborators and Investigators

• Sponsor: Haemnet
• Collaborators: BioMarin Pharmaceutical

Study record dates

Study Major Dates

• Study Start (Actual): December 21, 2022
• Primary Completion (Actual): September 29, 2023
• Study Completion (Actual): September 29, 2023

Study Registration Dates

• First Submitted: March 29, 2022
• First Submitted That Met QC Criteria: March 29, 2022
• First Posted (Actual): April 6, 2022

Study Record Updates

• Last Update Posted (Actual): March 13, 2024
• Last Update Submitted That Met QC Criteria: March 12, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases; Blood Coagulation Disorders, Inherited; Coagulation Protein Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Blood Coagulation Disorders; Hemophilia A
• Other Study ID Numbers: L2L

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Participant data will not be shared beyond the study group.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No