FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases

NCT06539169 | Recruiting

• 1 other identifier: XC-FLW-2024
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases. Patients participate in the study by electronic consent (eConsent) and sign a medical records release to permit data collection. Medical records are accessed from institutions directly via eFax or paper fax, online from patient electronic medical record (EMR) portals, direct from DNA/RNA sequencing and molecular profiling vendors, and via electronic health information exchanges. Patients and their treating physicians may also optionally provide medical records. Medical records are received in or converted to electronic/digitized formats (CCDA, FHIR, PDF), sorted by medical record type (clinic visit, in-patient hospital, out-patient clinic, infusion and out-patient pharmacies, etc.) and made machine-readable to support data annotation, full text searches, and natural language processing (NLP) algorithms to further facilitate feature identification.

Conditions

Alpha-Thalassemia; Beta-Thalassemia; Amyloidosis; Amyotrophic Lateral Sclerosis; Creutzfeld-Jakob Disease; Cystic Fibrosis; Duchenne Muscular Dystrophy; Early-Onset Alzheimer Disease; Ehlers-Danlos Syndrome; Huntington Disease; Gaucher Disease; GM1 Gangliosidosis; Myasthenia Gravis; Pompe Disease; Sickle Cell Disease; Transthyretin Amyloid Cardiomyopathy; Rare Diseases

Keywords

rare diseases

Outcome Measures

Primary Outcomes (6)

• Overall Survival (OS)

  5 Years

• Safety/tolerability of medications

  5 years

• Changes in normal development milestones

  5 years

• Changes in functional status

  5 years

• Changes in motor function

  5 years

• Changes in symptoms or clinical status

  5 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This study will include adult and pediatric patients with known or suspected rare disease.

You may qualify if:

• Any person with a known or suspected rare disease, defined by their prevalence of fewer than 200,000 individuals nationwide. Diseases include but are not limited to:
• Alpha- or Beta- Thalassemia Amyloidosis Amyotrophic Lateral Sclerosis (ALS) Creutzfeldt-Jakob disease (CJD) Cystic Fibrosis (CF) Duchenne Muscular Dystrophy (DMD) Early-onset Alzheimer's Disease Ehlers-Danlos Syndrome (EDS) Huntington's Disease (HD) Gaucher Disease GM1 Gangliosidosis Myasthenia Gravis Pompe Disease Sickle Cell Disease Transthyretin Amyloid Cardiomyopathy (ATTR-CM) Transthyretin Amyloid Polyneuropathy (ATTR-PN)
• \- Patients or their legally-authorized representative must be willing and able to provide informed consent (and assent, if applicable). Deceased persons may participate via consent of their legally-authorized representative in accordance with applicable Federal and state laws

You may not qualify if:

• Patient or LAR is unable to provide informed consent.
• Patient resides in a country other than the United States and is unable to provide access to medical records.

Sponsors & Collaborators

• xCures: lead

Study Sites (1)

xCures

Los Altos, California, 94022, United States

RECRUITING

MeSH Terms

Conditions

alpha-Thalassemia; beta-Thalassemia; Amyloidosis; Amyotrophic Lateral Sclerosis; Insomnia, Fatal Familial; Cystic Fibrosis; Muscular Dystrophy, Duchenne; Alzheimer Disease; Ehlers-Danlos Syndrome; Huntington Disease; Gaucher Disease; Gangliosidosis, GM1; Myasthenia Gravis; Glycogen Storage Disease Type II; Anemia, Sickle Cell; Rare Diseases

Condition Hierarchy (Ancestors)

Thalassemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Prion Diseases; Central Nervous System Infections; Infections; Sleep Initiation and Maintenance Disorders; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Pancreatic Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Infant, Newborn, Diseases; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Genetic Diseases, X-Linked; Dementia; Brain Diseases; Tauopathies; Neurocognitive Disorders; Mental Disorders; Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Skin Abnormalities; Congenital Abnormalities; Skin Diseases, Genetic; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Basal Ganglia Diseases; Chorea; Dyskinesias; Movement Disorders; Heredodegenerative Disorders, Nervous System; Cognition Disorders; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Gangliosidoses; Paraneoplastic Syndromes, Nervous System; Nervous System Neoplasms; Neoplasms by Site; Neoplasms; Paraneoplastic Syndromes; Autoimmune Diseases of the Nervous System; Neuromuscular Junction Diseases; Autoimmune Diseases; Immune System Diseases; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Mark Shapiro, MS

CONTACT

707-641-4475; expandedaccess@xcures.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 1, 2024
• First Posted: August 6, 2024
• Study Start: June 10, 2024
• Primary Completion (Estimated): June 10, 2026
• Study Completion (Estimated): June 10, 2026
• Last Updated: November 14, 2024

Record last verified: 2024-08

Locations

US (1)