New study!

Access to COVID-19 vaccination in people with rare diseases

Motivation

Global access to vaccines is a critical step in order to manage the SARS-CoV-2 pandemic. At the beginning of the pandemic outbreak, several patient organisations reported difficulties in accessing health care and vaccination, which was in an experimental phase during that period. 

Nowadays the situation has changed substantially and there are several vaccine options, but there are also new variants of the virus on the horizon. In this context, we consider that it is important to study the impact of vaccination on people living with a rare disease while the pandemic lasts.    

Objectives

Collecting information on vaccination in people with rare diseases and monitoring access to vaccines, as well as studying the course of the infections and their evolution.  

Method

The study is addressed to people with rare diseases or their caregivers, who will be asked to fill out a brief survey (it will only take up 15 minutes of your time). The data collected will be updated daily and it will be freely accessible to all participants in the study. 

New study!

Health-related quality of life in people living with rare diseases

Motivation

Living with a rare disease affects all aspects of daily life. This impact is disease-dependent and influenced by several factors like demography, time of diagnosis, disease-specific symptoms and treatments available, among others. Hence, it is important to develop quality of life (QoL) studies that incorporate the patient's perspective, with the aim of identifying and prioritizing areas of intervention for an integral care of the patients.

Objectives

Information directly reported by adult patients or caregivers of paediatric patients living with a rare disease will allow us to measure the impact on the health-related quality of life of this community. 

Differences reported by the patients according to their country of origin, diagnosis (if available) and disease-specific body systems affected will be correlated.

The results obtained will be disseminated during Rare Disease Day 2022 and communicated to key stakeholders in order to help them in the design of recommendations and guidelines. 

Method

The survey consists of 40 questions and it takes only 20 minutes to complete. The first part aims to collect data about the time of diagnosis and body systems affected by the disease. The second part seeks to assess physical and mental health based on 8 concepts:

  • Physical functioning
  • Bodily pain
  • Role limitations due to physical health problems
  • Role limitations due to personal or emotional problems
  • Emotional well-being
  • Social functioning
  • Energy 
  • General health perceptions
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. Nine 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!

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!

    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.