New study!

Long-term effects of the treatment of acute lymphoblastic leukemia (ALL) in paediatric patients

Motivation

With current treatments, the survival rate of children with ALL is now 85%. Despite this good prognosis, the long-term side effects of treatments can affect the future quality of life of patients.

Objectives

Identify and analyze the side effects of treatment 5 years after remission of ALL, taking into account the perspective of patients with pediatric disease onset (or that of their caregivers) as a source of information.

Method

A clinical and psychosocial study that will use the information provided directly by patients and their caregivers through the use of a validated ALAN scale (Acute Leukaemia Advocates Network) to report quality of life data. This pilot will be carried out in collaboration with the CLOSER project (GA 825749) and will also collect information from patients in Argentina, Chile and Uruguay.

New study!

Description of the natural history of ultra-rare paediatric tumours

Motivation

Childhood cancers are considered ultra-rare conditions due to their low frequency and the often unknown cause of the disease. More research is needed, in order to improve disease management and the quality of life of these patients.

Objectives

Enrol patients affected by these rare tumours into Share4Rare, to gain a better understanding of the disease and to allow clinicians to analyse the information and develop future treatments.

Method

A clinical and psychosocial study that will use the information provided directly by patients and their caregivers to collect data about the course of the disease and  treatments, as well as using validated scales to report on their quality of life.

New study!

Disease burden of undiagnosed patients from a holistic perspective

Motivation

Patients without diagnosis can have a wide range of symptoms. A misdiagnosis or a delayed diagnosis can have a serious impact on their quality of life.

Objectives

A better understanding of the symptoms experienced by undiagnosed patients will allow us to group them and analyse the burden of disease. This will help us to identify unmet needs and gain a better understanding of how to improve quality of life from a 360-degree perspective.

Method

A clinical and psychosocial study that will use information provided directly by patients and their caregivers through use of validated scales to report on quality of life data.

New study!

Understanding how neuromuscular diseases impact learning and working opportunities for patients and carers

Motivation

Patients with rare neuromuscular diseases are a scattered community, often dispersed, and poorly represented. The past 10 years have seen an improvement of care and an increased interest in developing research for rare neuromuscular diseases. There are now several new potential therapeutic approaches developed and tested in clinical trials and the first new treatments are becoming available in the US and EU. 

However, we know very little about the impact of neuromuscular diseases on the education and employment of patients and carers. These aspects can have a significant impact on quality of life and could play a role in the assessment of access to treatment and HTA requirements, if and when treatment becomes available. We therefore need a better understanding of the psychosocial impact of the disease on patients and their families and caregivers.
 

Objectives

Information provided directly by patients and their caregivers will allow us to understand the impact of rare neuromuscular diseases on employment and educational opportunities for patients and families living with a rare neuromuscular disease.
 

Method
  • Questionnaires designed by the John Walton Muscular Dystrophy Research Centre at Newcastle University, UK and the World Duchenne Organization.
  • Analysis of the data to understand the impact of neuromuscular diseases on the education and employment opportunities for patients and their families.