Nutritional and Metabolic Diseases

Gland and Hormone Related Diseases

All Conditions

Symptoms and General Pathology

Nervous System Diseases

Behaviors and Mental Disorders

Respiratory Tract (Lung and Bronchial) Diseases

Musculoskeletal Diseases

Digestive System Diseases

Diseases and Abnormalities at or Before Birth

Neoplasms

Heart and Blood Diseases

Wounds and Injuries

Immune System Diseases

Skin and Connective Tissue Diseases

Infections

Mouth and Tooth Diseases

Rare Diseases

Diabetes Mellitus

Inflammation

Syndrome

Alzheimer Disease

Lung Diseases, Obstructive

Pulmonary Disease, Chronic Obstructive

Osteoporosis

Crohn Disease

Intestinal Diseases

Inflammatory Bowel Diseases

Gout

Brain Neoplasms

Parkinson Disease

Obesity

Heart Failure

Spinal Cord Injuries

Asthma

Stroke

Dermatomyositis

Paralysis

Myocardial Infarction

Hypertension

Heart Diseases

Osteoarthritis

Aneurysm

Lung Neoplasms

Arthritis

Arthritis, Psoriatic

Epilepsy

Sclerosis

Lung Diseases

Psoriasis

Eczema

Multiple Sclerosis

Angina Pectoris

Angina, Unstable

Peripheral Arterial Disease

Peripheral Vascular Diseases

Liver Diseases

Apnea

Sleep Apnea Syndromes

Scleroderma, Systemic

Scleroderma, Diffuse

Heart Defects, Congenital

Headache

Arthritis, Rheumatoid

Spondylitis

Fibrosis

Arrhythmias, Cardiac

Arthritis, Juvenile

Bell Palsy

Facial Paralysis

Motor Neuron Disease

Amyotrophic Lateral Sclerosis

Cystic Fibrosis

Hydrocephalus

Muscular Dystrophies

Connective Tissue Diseases

Fibromyalgia

Myofascial Pain Syndromes

Spondylarthritis

Heart Valve Diseases

Ataxia

Cerebellar Ataxia

Myositis

Meningitis

Cluster Headache

Alopecia

Alopecia Areata

Tension-Type Headache

Craniocerebral Trauma

Undifferentiated Connective Tissue Diseases

Spondylitis, Ankylosing

Polymyositis

Granulomatosis with Polyangiitis

Axial Spondyloarthritis

Polymyalgia Rheumatica

Giant Cell Arteritis

Arteritis

Guillain-Barre Syndrome

Neurocutaneous Syndromes

Polychondritis, Relapsing

Hyperostosis

Hyperostosis, Diffuse Idiopathic Skeletal

Intracranial Aneurysm

Vascular Diseases

Infarction

Joint Diseases

Rheumatic Diseases

Collagen Diseases

Parkinsonian Disorders

Ganglion Cysts

Synovial Cyst

Basal Ganglia Diseases

Brain Diseases

Central Nervous System Diseases

Movement Disorders

Synucleinopathies

Shilpa Venkatachalam, PhD

Laura Stradford, MPH

Patient Power is a patient research network and database (registry) to collect prospective information about demographics, self-reported diagnoses and medications, and willingness to participate in research from participants with rheumatoid arthritis (RA), spondyloarthritis (SpA), other musculoskeletal conditions, chronic neurological conditions like migraine, chronic pulmonary conditions like Chronic Obstructive Pulmonary Disease (COPD), asthma, autoimmune dermatological conditions such as psoriasis, and other chronic inflammatory or immune-mediated conditions. In addition, since patients with chronic conditions often have other co-morbidities like cardiovascular health and obesity-related metabolic disorders, these conditions will also be included. Participants will provide information from their smartphones or personal computers. The information will be used by researchers and clinicians to help patients and their providers make better, more informed decisions about treatment of chronic conditions.

Patient Power is a patient research network and database (registry) to collect prospective information about demographics, self-reported diagnoses and medications, and willingness to participate in research from participants with rheumatoid arthritis (RA), spondyloarthritis (SpA), other musculoskeletal conditions, chronic neurological conditions like migraine, chronic pulmonary conditions like Chronic Obstructive Pulmonary Disease (COPD), asthma, autoimmune dermatological conditions such as psoriasis, and other chronic inflammatory or immune-mediated conditions. In addition, since patients with chronic conditions often have other co-morbidities like cardiovascular health and obesity-related metabolic disorders, these conditions will also be included. Participants will provide information from their smartphones or personal computers. The information will be used by researchers and clinicians to help patients and their providers make better, more informed decisions about treatment of chronic conditions.

We have established a governance structure with highly engaged patients and stakeholders who will serve on a Patient Governor Group (PGG) and Research Advisory Board (RAB) to ensure Patient Power participant privacy and transparency about research activities. Online tools and a mobile application at me securely capture patient data. The software tools built include real-time connection to the adaptive version of NIH Patient Reported Outcomes Measurement Information System (PROMIS) instruments capturing patient reported data that minimizes participant burden and allows participants to immediately view their scores if they choose. The Patient Power App runs on both web browsers and smartphones with data stored in the Amazon Web Services (AWS) cloud, not on a participant's smartphone or browser. The App has four key design pillars: (1) Patient engagement, community integration and education by incorporating GHLF bloggers and chronic disease news and social media engagement to the app for education, support and research findings to be shared directly and immediately with those living with registry-eligible chronic conditions; (2) Personal longitudinal health and medication tracking by providing participants' access to their actively contributed patient reported outcome (PRO) and other health-related data (e.g. current and past medications). We will use messaging to encourage participants to regularly update their information, including medication information. For example, we may remind participants to contribute their medication information with the following message: "You don't have any active medications. You can record your medications in Patient Power. By adding your active medications, you will be able to see how your symptoms have changed since starting a new medication. Click here to start entering medications". (3) Health care decision making by allowing App users to share health tracking reports at their discretion with their providers or caregivers; and (4) Research opportunities by providing a platform where an array of new research opportunities can be browsed by participants to combat chronic diseases. The combination of solid governance structure with well-developed policies and procedures, engaged patient community, collaborative relationships with many research partners and our innovatively convenient and mobile approach to data collection make Patient Power a unique and powerful patient-led initiative in chronic disease research.

PatientSpot Formerly Known as ArthritisPower

University of Alabama at Birmingham

Global Healthy Living Foundation

Director, Patient-Centered Research Operations and Ethical Oversight

Tuberous Sclerosis

Hamartoma

Neoplasms, Multiple Primary

Neoplastic Syndromes, Hereditary

Congenital Abnormalities

Malformations of Cortical Development

Nervous System Malformations

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Genetic Diseases, Inborn

Tuberous Sclerosis Complex

Didier BESSIS, PhD

Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction, hamartin and tuberin respectively, leading to mTOR signaling pathway activation, thus tumors rise on the skin but also brain, eyes, kidneys, heart.

Thanks to the advent of sequencing techniques of the human genome, genes involved were found twenty years ago. Most commonly, these are de novo private mutations and autosomal dominant Mendelian transmission. About 15% of patients have a phenotype corresponding to the disease but no mutation is found.

Although the initial clinical description was in 1880, publications regularly describe new signs in Tuberous Sclerosis, especially for skin.

Cutaneous manifestations are important in the diagnostic criteria of the disease and often even the first sign of appeal. However, no data is available on the relationship between genotype and dermatological phenotype.

Therefore the investigator intend to review all cutaneous finding in Tuberous Sclerosis patient and try to link with their mutation.

Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship

Dermatologic Clinical Patterns Study of Tuberous Sclerosis Complex Patients Related With Their Somatic Mutation

Phenotype : Dermatological signs observed

University Hospital, Montpellier

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
PatientSpot Formerly Known as ArthritisPower	NCT03840928	Rheumatoid Arth... Ankylosing Spon... Fibromyalgia Gout Crohn Disease Juvenile Idiopa... Lupus Erythemat... Myositis Osteoarthritis Osteoporosis Psoriasis Psoriatic Arthr... Scleroderma Dermatomyositis Inflammatory Bo... Polymyositis Axial Spondyloa... Diffuse Idiopat... Polymyalgia Rhe... Giant Cell Arte... Temporal Arteri... Wegener Relapsing Polyc... Undifferentiate... Spinal Cord Inj... Alzheimer Disea... Amyotrophic Lat... Ataxia Bell Palsy Brain Tumor Cerebral Aneury... Epilepsy Guillain-Barre ... Headache Head Injury Hydrocephalus Lumbar Disc Dis... Meningitis Multiple Sclero... Muscular Dystro... Neurocutaneous ... Parkinson Disea... Stroke Cluster Headach... Tension-Type He... Chronic Obstruc... Asthma Lung Cancer Cystic Fibrosis Sleep Apnea Eczema Alopecia Chronic Inflamm... Unstable Angina Heart Attack Heart Failure Arrythmia Valve Heart Dis... High Blood Pres... Congenital Hear... Peripheral Arte... Diabetes Chronic Liver D... Obesity		19 Years -	Global Healthy Living Foundation
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship	NCT04112537	Tuberous Sclero...		-	University Hospital, Montpellier

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