National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children

Summary

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).

Conditions

• Acid Sphingomyelinase Deficiency (ASMD)
• Niemann Pick Disease

Sponsors & Collaborators

• Beaujon Hospital

  collaborator OTHER

• University Hospital, Montpellier

  collaborator OTHER

• Centre Hospitalier Saint Joseph Saint Luc de Lyon

  collaborator OTHER

• Bichat Hospital

  collaborator OTHER

• Versailles Hospital

  collaborator OTHER

• University Hospital, Bordeaux

  collaborator OTHER

• Hôpital de la Timone (MARSEILLE)

  collaborator UNKNOWN

• Hôpital Claude-Huriez

  collaborator OTHER

• Hospices Civils de Lyon

  collaborator OTHER

• Hôpital Armand Trousseau

  collaborator OTHER

• Centre Hospitalier de Cornouaille

  collaborator OTHER

• Nantes University Hospital

  collaborator OTHER

• University Hospital, Angers

  collaborator OTHER_GOV

• Hospital BLOIS

  collaborator UNKNOWN

• Hôpital Pasteur, CHU Nice

  collaborator UNKNOWN

• Centre Hospitalier Eure-Seine

  collaborator OTHER

• University Hospital, Orléans

  collaborator UNKNOWN

• University Hospital, Toulouse

  collaborator OTHER

• APHM - Nord

  collaborator UNKNOWN

• Henri Mondor University Hospital

  collaborator OTHER

• Hôpital Européen Marseille

  collaborator OTHER

• CH Henri Mondor (Aurillac)

  collaborator UNKNOWN

• University Hospital, Clermont-Ferrand

  collaborator OTHER

• Centre Hospitalier Universitaire de Saint Etienne

  collaborator OTHER

• Hôpital Pellegrin, CHU Bordeau

  collaborator UNKNOWN

• Reims University hospital

  collaborator OTHER

• Hospital Avicenne

  collaborator OTHER

• University Hospital, Strasbourg

  collaborator OTHER

• Necker Hospital, 75015 Paris

  collaborator UNKNOWN

• Wladimir MAUHIN, Dr

  lead OTHER

Principal Investigators

• Wladimir Mauhin, MD PhD · Groupe Hospitalier Diaconesses Croix Saint-Simon

Eligibility

Min Age

2 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2025-05-15

Primary Completion

2035-04-15

Completion

2035-04-15

Countries

• France

Study Locations