Active registries

Mitochondrial diseases (ORPHA:68380) are a heterogeneous group of genetic disorders that affect the energy function of tissues with high energy demands, such as the brain, muscles, heart, kidneys, and endocrine system. Clinically, they are characterized by fatigue, muscle weakness, exercise intolerance, lactic acidosis, and multisystem involvement.

The Mitochondrial Disease Registry allows for the collection of clinical, genetic, and longitudinal follow-up data, facilitating a better understanding of the natural history and clinical variability of mitochondrial diseases, establishing phenotype-genotype correlations, and identifying prognostic factors. Furthermore, it promotes the identification of biomarkers, improves recruitment for clinical trials, and strengthens international collaborative research through participation in the European GENOMIT registry.

Pompe disease (ORPHA:365) is a rare lysosomal storage disease characterized by lysosomal accumulation of glycogen, particularly in skeletal, cardiac, and respiratory muscle, as well as in the liver and nervous system, caused by a deficiency of acid alpha-glucosidase (GAA).

The clinical spectrum ranges from an onset during infancy with severe hypertrophic cardiomyopathy, generalized muscle weakness, feeding problems, failure to thrive, and respiratory failure, to a late onset that manifests before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory failure.

The Pompe Disease Registry collects longitudinal clinical data that reflect the natural evolution of the disease and the response to treatment, allowing for improved clinical monitoring, optimized therapeutic decisions, identification of progression biomarkers, and facilitation of research into new therapeutic strategies.

Autoimmune myasthenia gravis (ORPHA:589) is an autoimmune neuromuscular disorder characterized by fluctuating muscle weakness and fatigability that worsens with use and improves with rest, due to the production of antibodies against components of the neuromuscular junction. Clinically, it most frequently affects the ocular (ptosis, diplopia), bulbar (dysarthria, dysphagia), facial, cervical, limb, and respiratory muscles.

The Autoimmune Myasthenia Gravis Registry facilitates the collection of longitudinal clinical data. This improves the understanding of the presentation, evolution, and therapeutic response, optimizes the design of clinical follow-up, strengthens recruitment for trials, and supports research.

CANVAS syndrome (ORPHA:504476) corresponds to cerebellar ataxia with bilateral vestibular neuropathy and areflexia, a late-onset autosomal recessive neurological disorder characterized by progressive ataxia, sensory neuropathy, vestibular areflexia, dysarthria, nystagmus, and, in some cases, chronic cough and autonomic dysfunction. It typically manifests in middle-aged adults, with a slow progression and multifactorial symptoms affecting balance, gait, sensory function, and ocular stability.

The CANVAS Registry enables the systematic collection of clinical, genetic, and longitudinal follow-up data. This data is essential for defining the natural history, phenotypic variability, correlating genotypes with phenotypes, and identifying prognostic factors. Furthermore, it optimizes diagnostic accuracy, facilitates the design of clinical protocols, enhances the identification of biomarkers, and strengthens recruitment for therapeutic trials. All this fosters collaborative research on this rare disorder.

Rett syndrome (ORPHA:778) is a neurological disorder predominantly in girls, characterized by apparently normal early development followed, between 6 and 18 months, by loss of motor and language skills, manual stereotypies (such as hand-wringing), deceleration of cranial growth, ataxia, apneas, epileptic seizures, and severe intellectual disability.

The Rett Syndrome Registry collects detailed, longitudinal clinical and genetic data. This allows for a precise definition of the natural history, phenotypic variability, genotype-phenotype correlation, and prognostic factors. It facilitates the improvement of clinical guidelines, optimizes trial design, and strengthens the identification of biomarkers. Furthermore, the registry boosts recruitment for therapeutic studies and enhances international collaboration.

Neuromuscular respiratory pathologies comprise a group of diseases in which weakness of the respiratory muscles leads to ventilatory insufficiency, ineffective cough, and chronic respiratory complications.

The Neuromuscular Respiratory Disease Registry focuses exclusively on the systematic and highly detailed collection of pulmonary function data (FVC, PCF, MIP/MEP) with longitudinal follow-up of various neuromuscular diseases, creating a solid foundation for analyzing respiratory progression and prognostic factors. This data improves the understanding of care patterns, clinical standardization, and the evaluation of specific therapies for respiratory complications.

Amyotrophic lateral sclerosis (ALS, ORPHA:803) is a progressive, incurable, and fatal neurodegenerative disease that causes muscle weakness, loss of motor function, and respiratory complications.

The ALS Registry collects clinical, socioeconomic, and demographic data from patients, gathered in a standardized manner by multidisciplinary units. This registry allows for a better understanding of the factors that influence clinical progression and can provide information for healthcare planning. It also facilitates the early identification of patients for inclusion in clinical trials and promotes precision medicine.

Transthyretin amyloidosis (ATTR, ORPHA:271861) is a chronic storage disease characterized by the deposition of transthyretin fibrils in multiple organs, primarily the heart (cardiomyopathy), peripheral nerves (polyneuropathy), and, to a lesser extent, other systems such as the gastrointestinal and renal systems. The disease also frequently presents with a variety of additional clinical signs and symptoms due to associated ocular, renal, central nervous system, and digestive system involvement.

The Transthyretin Amyloidosis Registry allows for the characterization of the natural history of the disease, genotype-phenotype correlation, and the analysis of clinical evolution and response to emerging therapies. Furthermore, it facilitates the identification of biomarkers and improves patient selection for clinical trials.

Facioscapulohumeral muscular dystrophy (FSHD, ORPHA:269) is a genetic myopathy characterized by progressive loss of strength in the facial, scapular, and trunk muscles, with significant clinical variability.

The Facioscapulohumeral Muscular Dystrophy Registry allows for the collection of demographic, genetic, and clinical data, including periodic monitoring of symptoms, motor function, and respiratory function. This systematic approach promotes a better understanding of the natural history and phenotypic variability of the disease, facilitates the identification of biomarkers, and improves diagnostic accuracy through updated genetic criteria.

Fanconi anemia (ORPHA:84) is an autosomal recessive genetic disorder characterized by chromosomal instability, congenital malformations, progressive bone marrow failure, and a high risk of malignancy, especially leukemia and squamous cell cancers.

The Fanconi Anemia Registry collects clinical, genetic, and disease progression data from patients. This tool enhances the understanding of the natural history and phenotypic variability of Fanconi anemia, facilitates the identification of biomarkers and of genotype-phenotype correlations, facilitates recruitment for clinical trials, and strengthens research.

Collagen-related dystrophies VI (ORPHA:646098, ORPHA:646113) include pathologies such as Bethlem myopathy, Ullrich congenital dystrophy and intermediate forms, characterized by proximal muscle weakness, joint laxity, spinal stiffness and often respiratory involvement.

The Collagen VI Registry collects demographic, genetic, and clinical data with regular updates on confirmed patients. This registry helps define the natural history of collagen VI diseases and their phenotypic variability, facilitates biomarker identification and genotype-phenotype correlations, simplifies patient selection for clinical trials, and strengthens collaborative research.