Diseases

On Share4Rare you’ll find a safe place to share your experience, ask questions and get involved in research. You’ll find reliable content and people to help you regardless of where you are on your health journey.

Share4Rare is going to be piloted with diferent groups of conditions: rare tumours, vascular anomalies, neuromuscular disorders and undiagnosed patients. Also we will study the side effects of treatments in acute lymphoblastic leukemia patients and the impact of COVID19 in the rare diseases patients.

Data and experiences from patients and caregivers will allow us to describe the natural history of these conditions and identify the commonalities and specificities of these diseases.

Would you like to know more about rare diseases?

In this section, you will find high-quality medical content for these diseases or conditions. Our expert teams are producing them and will be uploaded soon. If you want to help to review content, please contact us.

Oncology

Paediatric melanoma
Xeroderma pigmentosum (XP)
Gliomatosis cerebri (GC)
Retinoblastoma
Acute lymphoblastic leukaemia (ALL)
Rare tumours of the pancreas
- Pancreatoblastoma
- Neuroendocrine pancreatic tumour
- Solid pseudopapillar neoplasm of the pancreas

Vascular Anomalies

Vascular tumours
Vascular malformations
- Venous malformation
- Lymphatic malformations
- Arteriovenous malformation (AVM)
- PI3K related overgrowth spectrum (ROS, PIK3CA related overgrowth spectrum and AKT)

Neuromuscular disorders

Muscular dystrophies
- Myotonic dystrophy (DM1 and DM2)
- Facioscapulohumeral MD (FSHD)
- Limb girdle MD (LGMD)
- Congenital muscular dystrophies (CMD)
Amyotrophic lateral sclerosis (ALS)
Peripheral neuropathies
- Charcot Marie Tooth (CMT)
- Chronic inflammatory demyelinating polyneuropathy (CIDP)
Congenital myasthenias
- Myasthenia gravis
Congenital myopathies

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.

See the study

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.

See the study

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