National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age2+
SponsorWladimir MAUHIN, Dr
About this trial
The goal of this study is to describe the natural history of ASMD in adult and paediatric patients with or without specific treatment in order to assess the impact of the disease on their daily lives and quality of life.
The population concerned corresponds to patients aged at least 2 years, with a definite diagnosis of ASMD as determined by a confirmed low acid sphingomyelinase assay and who have not expressed their opposition to participating in this research (patients and/or parental authority).
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Any patient aged at least 2 years, with a confirmed diagnosis of ASMD determined by a lowered acid sphingomyelinase assay.
Have received written and oral information about the protocol and have not expressed opposition to participating in the study.
Affiliated to the social security system or entitled to benefits (excluding AME).
Disqualifiers
Inability to understand the information provided,
Under guardianship, trusteeship or judicial protection,
Under detention or deprived of liberty by judicial or administrative decision.
Trial population
The target population will be patients aged 2 years or older with a definite diagnosis of ASMD, as determined by a confirmed low acid sphingomyelinase assay, and who have not given their opposition (patient and/or parent) to participate in this research.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
200 Participants
are grouped into 1 trial groupGroup A: Experimental Cohort
Trial outcomes
Primary outcomes
1
To describe the natural history of ASMD (symptoms, complications)
To describe the natural history of ASMD (symptoms, complications) in adult and paediatric patients with and without therapeutic treatment and to assess their quality of life.
Time frame
120 monthsSecondary outcomes
1
Identify of prognostic factors, available treatments and phenotypic forms of the disease
* Identify prognostic factors for the disease: genetic, biochemical, symptomatic, radiological and social. * Evaluate the therapeutic treatments available. * List the different phenotypic forms on a national scale. * To highlight the social problems associated with the disease.
Time frame
120 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Wladimir MAUHIN, Dr
Lead sponsor
Groupe Hospitalier Diaconesses Croix Saint-Simon
Sponsor institution
Beaujon Hospital
Collaborator
University Hospital, Montpellier
Collaborator
Centre Hospitalier Saint Joseph Saint Luc de Lyon
Collaborator
Bichat Hospital
Collaborator
Versailles Hospital
Collaborator
University Hospital, Bordeaux
Collaborator
Hôpital de la Timone (MARSEILLE)
Collaborator
Hôpital Claude-Huriez
Collaborator
Hospices Civils de Lyon
Collaborator
Hôpital Armand Trousseau
Collaborator
Centre Hospitalier de Cornouaille
Collaborator
Nantes University Hospital
Collaborator
University Hospital, Angers
Collaborator
Hospital BLOIS
Collaborator
Centre Hospitalier Universitaire de Nice
Collaborator
Centre Hospitalier Eure-Seine
Collaborator
University Hospital, Orléans
Collaborator
University Hospital, Toulouse
Collaborator
APHM - Nord
Collaborator
Henri Mondor University Hospital
Collaborator
Hôpital Européen Marseille
Collaborator
CH Henri Mondor (Aurillac)
Collaborator
University Hospital, Clermont-Ferrand
Collaborator
Centre Hospitalier Universitaire de Saint Etienne
Collaborator
Hôpital Pellegrin, CHU Bordeau
Collaborator
Reims University hospital
Collaborator
Hospital Avicenne
Collaborator
University Hospital, Strasbourg
Collaborator
Hôpital Necker-Enfants Malades
Collaborator
Source ClinicalTrials.gov
This trial is not recruiting at the moment. You can still explore other options: