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| Name | Class |
|---|---|
| Beaujon Hospital | OTHER |
| University Hospital, Montpellier | OTHER |
| Centre Hospitalier Saint Joseph Saint Luc de Lyon | OTHER |
| Bichat Hospital |
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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).
Niemann Pick A/ AB/ B disease also known as acid sphingomyelinase deficiency (ASMD) is a very rare genetic disease. The natural history remains poorly understood. This disease leads to morbidity and mortality. A specific effective treatment has been available since 2023.
The Internal Medicine Department of the Groupe Hospitalier Diaconesses Croix Saint-Simon (GHDCSS), reference center for lysosomal diseases, develops this clinical study in order to better understand the natural history of Niemann Pick A/ AB/ B disease, and better manage the symptoms, the complications and also the impact of this new treatment, particularly on daily life (quality of life). This French multicenter cohort research is coordinated by Dr Wladimir MAUHIN, (Internal medicine department, GHDCSS, Paris).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Experimental Cohort | A cohort of 200 pediatric and adult participants, diagnosed of ASMD, as established by a confirmed low acid sphingomyelinase assay, and who have not given their opposition (patient and/or parent) to participate in this research. |
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| Measure | Description | Time Frame |
|---|---|---|
| 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. | 120 months |
| Measure | Description | Time Frame |
|---|---|---|
| Identify of prognostic factors, available treatments and phenotypic forms of the disease |
| 120 months |
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Inclusion Criteria:
Exclusion Criteria:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Wladimir Mauhin, MD PhD | Groupe Hospitalier Diaconesses Croix Saint-Simon | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Groupe Hospitalier Diaconesses Croix Saint-Simon | Paris | France | 75020 | France |
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| ID | Term |
|---|---|
| D009542 | Niemann-Pick Diseases |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| OTHER |
| Versailles Hospital | OTHER |
| University Hospital, Bordeaux | OTHER |
| Hôpital de la Timone (MARSEILLE) | UNKNOWN |
| Hôpital Claude-Huriez | OTHER |
| Hospices Civils de Lyon | OTHER |
| Hôpital Armand Trousseau | OTHER |
| Centre Hospitalier de Cornouaille | OTHER |
| Nantes University Hospital | OTHER |
| University Hospital, Angers | OTHER_GOV |
| Hospital BLOIS | UNKNOWN |
| Centre Hospitalier Universitaire de Nice | OTHER |
| Centre Hospitalier Eure-Seine | OTHER |
| University Hospital, Orléans | UNKNOWN |
| University Hospital, Toulouse | OTHER |
| APHM - Nord | UNKNOWN |
| Henri Mondor University Hospital | OTHER |
| Hôpital Européen Marseille | OTHER |
| CH Henri Mondor (Aurillac) | UNKNOWN |
| University Hospital, Clermont-Ferrand | OTHER |
| Centre Hospitalier Universitaire de Saint Etienne | OTHER |
| Hôpital Pellegrin, CHU Bordeau | UNKNOWN |
| Reims University hospital | OTHER |
| Hospital Avicenne | OTHER |
| University Hospital, Strasbourg | OTHER |
| Hôpital Necker-Enfants Malades | OTHER |
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| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D015616 | Histiocytosis, Non-Langerhans-Cell |
| D015614 | Histiocytosis |
| D008206 | Lymphatic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |