Elisa Mora de Checa

New Share4Rare study on the description of the natural history of vasculopathies

Banner of the study on vascular anomalies
New study!

Description of the natural history of vasculopathies

This research project collects data reported from patients suffering from vascular abnormalities, in order to study their impact in the quality of life and whether the treatments received are efficient. This will help better understand these diseases and prioritize treatment discovery.

Vascular anomalies are alterations in the development of the vascular system produced by mutations in different genes. Those anomalies can present a wide variety of symptoms that may differ in each person depending on the type of vessel and the degree of affectation or whether other tissues are compromised in addition to the vessels. 

Patients affected with capillary malformations suffer from glaucoma, vision loss, mobility problems, hydrocephalia and, in some cases, severe developmental delay.

This is why there are so many different classifications and names, including:

  • 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

Although complications have been reported and have an impact on the relationships and quality of life of children suffering from these rare diseases, there are no thorough natural history or quality of life studies for this group of patients.

Today there are several treatments available that differ according to the type of injury, therefore, collecting this data is crucial to prioritize treatment discovery for these patients. 

For this reason, Dr. Eulàlia Baselga, head of dermatology department at sant Joan de Déu Children's Hospital Barcelona and their colleagues are promoting this project within Share4Rare intending to advance research and knowledge on these pathologies. 

The objective of this research study is to make an impact assessment of the effect of vascular anomalies in the day-to-day activities, satisfaction with the treatment received, assess pain and social interactions of children suffering from such conditions. 

To study this, nine validated scales on quality of life, mobility, satisfaction with treatment, pain intensity and peer relationships are available at Share4Rare. Information directly reported by patients and their caregivers will allow us to analyse and evaluate the psychosocial and quality of life impact of these diseases in paediatric patients.

Patients and carers affected by one of the diseases listed above, who are not yet registered in Share4Rare but would like to participate in the research study, can now register here.

Please, contact us at info@share4rare.org if you have any question or would like additional information about this research project.

Related diseases
Parkes-Weber syndrome
PI3K related overgrowth syndrome (PROS)
Proteus syndrome
Sturge-Weber syndrome