Study on the quality of life of women
affected by X-linked adrenoleukodystrophy [ALD]

A new study is available on Leuconnect!
In partnership with ELA International and under the responsibility of Professor Wolfgang Koehler in Germany, the team from the University of Leipzig is opening a study on the quality of life of women affected by the mutation of the ABCD1 gene, responsible for X-linked adrenoleukodystrophy.

This study is aimed at women affected by X-linked adrenoleukodystrophy.It is now known that women with this mutation can develop late symptoms that progress with age, but these are often underestimated due to the more moderate and delayed progression of the disease.
This study should make it possible to identify the influence of various neurological symptoms on the quality of life of these patients and to highlight the resulting difficulties. It could speed up the diagnosis of the disease and lead to new preventive treatments.

This study is being conducted on the Leuconnect platform
The study will be conducted using online questionnaires on Leuconnect. They will cover a variety of areas, including activities of daily living.
This study will be conducted in 3 languages, and is aimed at English, French and German speakers.
If you have not already done so, come and discover the platform and join the cohort now by registering on Leuconnect at the following link: https://www.leuconnect.com

Video : Presentation Study wommen ALD

 

 Assessing the impact of cerebral adrenoleukodystrophy (CALD) on patients and their families – Completed

There are no studies in France on the burden of cerebral adrenoleukodystrophy (CALD) on the children affected and their families.
In partnership with ELA International, and accompanied by ARGO Santé, a health research and consulting firm, BlubirdBio is launching a study on the impact of the disease on boys with CALD.

What is the objective of this study?
The objective of this study is to better understand the impact of the disease on patients and their families in order to assist in diagnosing the disease early, treating symptoms and implementing actions to improve the quality of life of patients and their families.

Who can participate?
It is intended for adult caregivers, resident in France, of children diagnosed with CALD before the age of 18 and for less than 10 years. However, if the individual is a caregiver of several children diagnosed with CALD and one of them has been diagnosed with CALD for more than 10 years, the caregiver may participate in the study for the other children who are ill.

How is the study going?
This study addresses different aspects of the life course, the diagnosis experience, the effects of care, and the daily life of the affected child and that of their family, as well as the consequences on the caregiver’s professional life and the family’s financial resources.

It takes place online on Leuconnect, using questionnaires that the caregiver can answer according to their availability. It will be supplemented by a telephone interview of approximately 30 minutes on the description of the care pathway.
This survey is conducted confidentially in accordance with the legal standards governing Leuconnect.
Your testimony is extremely valuable and your expertise on the disease is invaluable to research.

Thanks to you, research is accelerating!
To apply for the study, follow this link: https://www.leuconnect.com/fr-FR/Study/Card/5
Find out more about the study and the use of your information: contact@argosante.eu

 

The first study on the impact of metachromatic leukodystrophy (MLD) on the lives of families is open on Leuconnect! – Completed

In partnership with ELA International, and joined by ARGO Santé, a health research and consulting firm, ORCHARD Therapeutics is launching a study on the experiences of parents of children with MLD who have not been treated with gene therapy. The objective of this study is to better understand the evolution of the disease and to measure the impact of the disease on the quality of life and its impact on the daily lives of families.

This study is aimed at families affected by metachromatic leukodystrophy residing in France. It has already been carried out in other countries and is part of a broader approach.
It will take place in two stages, the first stage being a questionnaire addressed to the parents who will be included in this study, and then an interview that will allow the anonymous collection of family testimonies.

This study is being conducted on the Leuconnect platform.
If you haven’t already done so, come and discover the platform and join the cohort now by registering on Leuconnect at the following link:
https://www.leuconnect.com
Educational videos and “practical” articles are available on the platform to support you in your approach.
General information on the study is available to all by visiting the Leuconnect news page or by clicking directly on this link: MLD Study
Because the expert assessment of families impacted by leukodystrophies is essential for research, it is important to be part of the Leuconnect cohort, to participate in online studies and to keep in touch with the community.
This first online study paves the way for other studies already in preparation and soon to be made available.