International Rare Histiocytic Disorders Registry (IRHDR)

Titre officiel

International Rare Histiocytic Disorders Registry (IRHDR)

Sommaire:

Les maladies rares histiocytaires sont caractérisées par l'infiltration d'histiocytes non-LCH dans un ou plusieurs organes. Elles peuvent aller des maladies localisées qui disparaissent spontanément à des formes disséminées et progressives qui  peuvent parfois mettre la vie en danger. Étant donné qu'elles sont extrêmement rares, la compréhension de leur cause est limitée, ainsi que les meilleures options de traitement. Les médecins, les patients et les parents d'enfants présentant un cadre histiocytaire consultent fréquemment des membres de la Société Histiocytaire sur la meilleure manière de traiter ces troubles. Très souvent, il est impossible de faire des recommandations spécifiques en raison du manque de données prospectives sur les effets ou même de vastes séries rétrospectives de cas. La création d'un registre international des maladies histiocytaires rares (IRHDR) pourrait faciliter un diagnostic uniforme de la maladie, ainsi que le recueil et l'analyse du traitement clinique et épidémiologique et les données sur la survie des patients avec maladie histiocytaire rare. Le registre peut aussi entraîner de futures recommandations thérapeutiques, fournir un cadre pour de futurs essais cliniques et créer d'excellentes occasions de recherche.

Description de l'essai

Primary Outcome:

• Collecting data on disease presentation, treatments used and treatment outcomes over time for patients diagnosed with RHD to better understand the diseases and optimize the treatments

Secondary Outcome:

• Develop treatment guidelines for the RHD based on solid clinical trial data

Histiocytoses are rare diseases caused by an excess of cells called Histiocytes, which can infiltrate the skin, bones, lungs, liver, spleen and the central nervous system. These disorders can range from localized involvement that resolves spontaneously, to progressive disseminated forms that can be debilitating and sometimes life-threatening. The rare histiocytic disorders (RHD), or non-Langerhans cell disorders, are a diverse group of disorders defined by the accumulation of histiocytes that do not meet the criteria for Langerhans cell histiocytosis (LCH) or hemophagocytic lymphohistiocytosis (HLH). They include: Juvenile xanthogranuloma family, Erdheim-Chester disease, Multifocal Reticulohistiocytosis, Rosai-Dorfman disease and the Malignant Histiocytoses. Since they are so rare, there is limited understanding of their causes and treatments. Physicians, patients and parents of children with rare histiocytoses frequently consult members of the Histiocyte Society on the management of these disorders. Very often, no specific recommendation about treatment can be made due to the lack of prospective outcome data for these rare entities. The creation of an International Rare Histiocytic Disorders Registry (IRHDR) will facilitate a uniform diagnosis of the RHD's, as well as the collection and analysis of the clinical, epidemiological, treatment and survival data of patients with RHD. The registry will also provide expert pathology reviews and may lead to future therapeutic recommendations. Furthermore, the IRHDR can provide a framework for future clinical trials, thus, creating excellent research opportunities. Lastly, a de-identified link between clinical data and companion biology studies can potentially be accomplished in the future through the IRHDR. This may further help in understanding the etiology of these rare diseases, as well as identifying potential therapeutic targets.

Voir cet essai sur ClinicalTrials.gov