|Chair: Emilia Gatto
||Vice Chair: Mayela Rodriguez Violante
MDS Staff Liaison: Finoula Harrington
The World Health Organization (WHO) does not endorse a single definition for orphan diseases. In some countries (e.g., Japan, Argentina, United States) an accepted prevalence ranges from 1/ 1,000 to 1/ 2,500; while in others (e.g., European Commission) require not only a low prevalence but also a “life-threatening or chronically debilitating clinical condition”. With the recent advances in molecular genetics there is an increasing number of rare diseases being identified, many of them involving movement disorders.
Orphan or Rare Movement Disorders (RMD) comprise a large number of rare and disabling disorders with a wide phenotypic spectrum that often emerge in childhood. A number of issues regarding patient identification, diagnosis, standard of care, lack of specific medical treatment and outcome measures constitute relevant reasons to develop a study group focusing on this topic.
Currently, the RMD Study Group aims to bring together researchers, patient groups and health professionals; as well as to stimulate research to improve diagnostic and therapeutic options for orphan diseases including those with movement disorders. Nevertheless, a coordinated effort at an international level is required to advance RMD research, and increase education and awareness regarding these disorders.
The Study Group represents an opportunity to develop an international registry of RMD. This registry will facilitate the development of high quality worldwide observational and interventional studies of RMD.
Goals and Mission
1. To provide an educational instrument for identification, characterization and where possible, standardized management of RMD. The target population will not only include movement disorder specialists, but also general neurologists and neuro-pediatricians.
2. To generate epidemiologic data by determining the prevalence of RMD and comparing prevalence across different populations. To obtain this data the Study Group will:
a. encourage the development of a unified electronic database (global RMD registry) for harmonized data acquisition in different RMD.
b. facilitate international cross-cultural studies.
3. To harmonize and coordinate with others existing MDS Study Groups (MSA, Huntington's disease definition, Dystonia Study Group, Genetic Study Group).
4. To launch studies, focusing on genetic underpinnings and creating global bio-banks through adequate protocols; thus improving recognition, diagnosis and understanding of RMD.
5. To develop consensus and guidelines for the research and management of RMD, based on the principles of evidence-based medicine and good clinical practices.
6. To coordinate with existing disease networks that already provide broad partnerships at the continental level (particularly in Europe and the United States).
7. To develop joint registries so that epidemiological and clinical data can provide a great opportunity to partner with industry and foster their interest on these disorders as well as to promote an improvement in the quality of life of these peoples.
To achieve the goals and mission stated, we defined the following specific aims:
- To define, characterize and establish frequency of RMD
- To establish a global patient registry interconnected with the already available disease-specific registries
- To work toward developing international harmonization consensus to promote diagnosis, identification, classification, diffusion, research and translational trials for orphan diseases with movement disorders
- To define standard diagnostic procedures
- To harmonize with the Task Force for the Nomenclature of Genetically determined Movement Disorders
- To develop, translate and validate educational-specific curriculum for these disorders
- To develop Good Clinical Practice (GCP) guidelines for diagnosis and pharmacologic as well as non-pharmacologic treatments
- To integrate RMD collaborative research studies
Our members are currently working on the first draft questionnaire, addressing the definition, characterization, and frequency of the most relevant RMD-related issues in order to create a position paper highlighting the current gaps and guiding future efforts.