New study!

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


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.


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. 


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


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

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.


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.