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NCT Number: NCT06539169

FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases

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.

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Key information

Conditions

Alpha-Thalassemia Alzheimer Disease Amyloidosis Amyotrophic Lateral Sclerosis Anemia Anemia, Hemolytic Anemia, Hemolytic, Congenital Anemia, Sickle Cell Autoimmune Diseases Autoimmune Diseases of the Nervous System Basal Ganglia Diseases Beta-Thalassemia Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Cardiovascular Diseases Central Nervous System Diseases Central Nervous System Infections Chorea Cognition Disorders Collagen Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Creutzfeld-Jakob Disease Cystic Fibrosis Dementia Digestive System Diseases Disease Attributes Duchenne Muscular Dystrophy Dyskinesias Dyssomnias Early-Onset Alzheimer Disease Ehlers-Danlos Syndrome GM1 Gangliosidosis Gangliosidoses Gangliosidosis, GM1 Gaucher Disease Genetic Diseases, Inborn Genetic Diseases, X-Linked Glycogen Storage Disease Glycogen Storage Disease Type II Hematologic Diseases Hemic and Lymphatic Diseases Hemoglobinopathies Hemorrhagic Disorders Hemostatic Disorders Heredodegenerative Disorders, Nervous System Huntington Disease Immune System Diseases Infant, Newborn, Diseases Infections Insomnia, Fatal Familial Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lung Diseases Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Mental Disorders Metabolic Diseases Metabolism, Inborn Errors Motor Neuron Disease Movement Disorders Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Musculoskeletal Diseases Myasthenia Gravis Neoplasms Neoplasms by Site Nervous System Diseases Nervous System Neoplasms Neurocognitive Disorders Neurodegenerative Diseases Neuromuscular Diseases Neuromuscular Junction Diseases Nutritional and Metabolic Diseases Pancreatic Diseases Paraneoplastic Syndromes Paraneoplastic Syndromes, Nervous System Pathologic Processes Pathological Conditions, Signs and Symptoms Pompe Disease Prion Diseases Proteostasis Deficiencies Rare Diseases Respiratory Tract Diseases Sickle Cell Disease Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Sleep Disorders, Intrinsic Sleep Initiation and Maintenance Disorders Sleep Wake Disorders Sphingolipidoses Spinal Cord Diseases TDP-43 Proteinopathies Tauopathies Thalassemia Transthyretin Amyloid Cardiomyopathy Vascular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

xCures

Los Altos, California, 94022, United States

Location status: Recruiting

Location contact

Mark Shapiro

CONTACT

[email protected]

707-641-4475

About this study

This study does not require data entry by treating site staff or physicians. Centralized data structuring is completed by xCures study staff. Data elements are aggregated, normalized, and coded to OMOP-based ontologies (SNOMED, LOINC, ICD-10, CTCAE, RxNorm, and MedDRA) in one process, permitting standardization of verbatim terms from medical records. The data collection platform supports 21 CFR Part 11-compliant data annotation with formal QC/QA process, medical review, and source data verification.

Beyond EMR data, raw DICOM images (MRI, CT files) can be collected from all sites of care and anonymized for integration with the clinical data. Molecular profiling and somatic or germline genomics results, and biochemical lab data, when available, are collected from commercial and academic sources and centralized. Additionally, patient- and caregiver-reported outcome surveys (PROs) can be collected to supplement information not found in clinical records.

Together, these clinical, imaging, biomarker, and assessment data will provide a comprehensive and longitudinal documentation of rare diseases in near real-time in a single observational basket study.

Traditional rare disease research registries rely on patients reporting many aspects of their condition via surveys or rely on key opinion leaders at specific institutions managing a team to enroll patients and annotate necessary data. These put unnecessary burdens on patients and strain limited research resources at medical centers. Gathering the necessary data and in sufficient quantities is often a limitation to successfully defining the natural history of a rare disease.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

Exclusion criteria

  • 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.

Treatment and study plan

Primary outcomes

  1. Overall Survival (OS)

    Time frame: 5 Years

  2. Safety/tolerability of medications

    Time frame: 5 years

  3. Changes in normal development milestones

    Time frame: 5 years

  4. Changes in functional status

    Time frame: 5 years

  5. Changes in motor function

    Time frame: 5 years

  6. Changes in symptoms or clinical status

    Time frame: 5 years

Study contacts

Contact information is provided by the study sponsor or research team.

Mark Shapiro, MS

CONTACT

[email protected]

707-641-4475

Sponsors and collaborators

Lead sponsor

xCures

Industry

Registry information

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Aug 6, 2024
Registry last updated
Nov 14, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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