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 acute paediatric leukaemia (ALL) is now 85%. Despite this good prognosis, the long-term side effects of treatments can affect the future quality of life of these patients.

Objectives

Identify and analyze the side effects of treatment 3 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 because in many cases the cause of the disease is unknown. More research is needed in order to improve disease management and the quality of life of these patients.

The diseases included in this study are:

  • Gliomatosis cerebri
  • Xeroderma pigmentosum
  • Giant congenital melanocytic nevus 
  • Retinoblastoma
  • Paediatric melanoma
  • Rare pancreatic tumours 
    • Pancreatoblastoma
    • Neuroendocrine pancreatic tumour
    • Solid pseudopapillar neoplasm of the pancreas
Objectives

Enrol patients affected by these rare tumours into Share4Rare to improve our understanding of some of these diseases and to allow clinicians and experts analyse the information and develop future treatments.

Method

A clinical and psychosocial study that will analyse information provided directly by patients and their caregivers about the disease and its treatments. It will also use 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 improve their quality of life from a 360-degree perspective.

Method

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

New study!

Impact of neuromuscular diseases on education and working opportunities of patients and carers

Motivation

During the last 10 years, there has been a growing interest in developing research related to neuromuscular diseases. There are therapies that have been tested in clinical trials and some of them are already available for patients in the United States and the European Union.

However, very little is known about the impact of neuromuscular diseases on the education and employment opportunities of both patients and their caregivers, and this can have a significant impact on their quality of life and their access to potential treatments in the future. 

The diseases included in this study are the following:

  • Muscular dystrophies (MD)
    • Myotonic dystrophy (MD1 and MD2)
    • Fascioscapulohumeral MD (FSHD)
    • Limb girdle MD (LGMD)
    • Congenital muscular distrophies
  • Amyotrophic Lateral Sclerosis (ALS)
  • Peripheral neuropathies
    • Charcot Marie Tooth (CMT)
    • Chronic inflammatory demyelinating polyneuropathy (CIDP)
  • Congenital myasthenias
    • Myasthenia gravis
  • Congenital myopathies
Objectives

Information provided directly by patients and their caregivers will allow us to understand the impact of rare neuromuscular diseases on the employment opportunities and the education of these patients and their families.

Method
  • Questionnaires developed and 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 of patients and their families.
     
New study!

A registry to investigate how COVID-19 affects people with rare diseases

Motivation

People with rare diseases are doubly vulnerable to COVID-19: on the one hand, many of these pathologies put patients' health at a higher risk during a SARS-CoV-2 infection, and, on the other, confinement and lack of medical care due to the saturation of certain health services are making it difficult to treat these patients. If little is known about how this new infectious disease affects people without previous pathologies, even less is known about the effect of COVID-19 in people with unknown rare diseases.

Objectives

A new patient registry will be created to better understand how COVID-19 affects people with rare or undiagnosed diseases. The registry will collect information of patients with rare diseases and with a positive diagnosis for COVID-19. This will help improve the general knowledge of this new disease and its evolution and prognosis in these patients.

Method

Patient registry that will implement information provided directly by patients and their caregivers. The information will be collected through a series of questionnaires addressed to patients living with a rare disease and who have tested positive for SARS-CoV-2 infection. The registry is open to patients of all ages.

New study!

Description of the natural history of vasculopathies

Motivation

Vascular malformations or anomalies are alterations in the development of the vascular system that are usually part of a larger pathological entity known as a syndrome. Tissues such as skin and bone have a predisposition to excessive growth, generating injuries and tumours that are usually very evident. This extensive growth has a great impact on the quality of life of the affected people and their families.

The diseases included in this study are the following:

  • Capillary malformations
    • Sturge-Weber syndrome
    • Pigmentovascular phakomatosis
  • Venous malformations
  • Lymphatic malformations
  • Arteriovenous Malformations (AVMs):
    • Cobb syndrome
    • Parkes-Weber syndrome
    • Capillary malformation syndrome (CM-AVM)
  • PI3K-associated overgrowth syndromes:
    • Macrocephaly / megalencephaly capillary malformation syndrome
    • CLOVES syndrome
    • Proteus syndrome
    • Capillary malformation with overgrowth
    • PROS
Objectives

Data on quality of life in this group of patients is really scarce. For this reason, we are promoting this project with the aim of advancing research and knowledge on these pathologies.

Method

The information provided by these patients or their caregivers will allow us to analyse and evaluate the psychosocial impact and the impact on the quality of life of these diseases in pediatric patients. Four validated scales will be used as an instrument to report on pediatric dermatology, effects on mobility, pain intensity and impact of environmental attitudes.

New study!

MPNE Study - The burden of melanoma

Motivation

A melanoma diagnosis means a considerable burden for patients and their family members.

Objectives

We would like to better understand the burden melanoma causes, how it shapes people’s thinking and what helps them cope with it.

Method

This study captures to understand a melanoma patient’s or carer’s mental adjustment to cancer, their risk and benefit preferences in treatments and their experiences about impact and coping with the disease. 

This is a study conducted by the Melanoma Patient Network Europe, a Share4Rare partner.