Ignite Creation Date:
2025-12-24 @ 11:03 PM
Ignite Modification Date:
2026-01-04 @ 4:43 AM
Study NCT ID:
NCT06539169
Status:
RECRUITING
Last Update Posted:
2024-11-14
First Post:
2024-08-01
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D017085', 'term': 'alpha-Thalassemia'}, {'id': 'D017086', 'term': 'beta-Thalassemia'}, {'id': 'D000686', 'term': 'Amyloidosis'}, {'id': 'D000690', 'term': 'Amyotrophic Lateral Sclerosis'}, {'id': 'D034062', 'term': 'Insomnia, Fatal Familial'}, {'id': 'D003550', 'term': 'Cystic Fibrosis'}, {'id': 'D020388', 'term': 'Muscular Dystrophy, Duchenne'}, {'id': 'D000544', 'term': 'Alzheimer Disease'}, {'id': 'D004535', 'term': 'Ehlers-Danlos Syndrome'}, {'id': 'D006816', 'term': 'Huntington Disease'}, {'id': 'D005776', 'term': 'Gaucher Disease'}, {'id': 'D016537', 'term': 'Gangliosidosis, GM1'}, {'id': 'D009157', 'term': 'Myasthenia Gravis'}, {'id': 'D006009', 'term': 'Glycogen Storage Disease Type II'}, {'id': 'D000755', 'term': 'Anemia, Sickle Cell'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D013789', 'term': 'Thalassemia'}, {'id': 'D000745', 'term': 'Anemia, Hemolytic, Congenital'}, {'id': 'D000743', 'term': 'Anemia, Hemolytic'}, {'id': 'D000740', 'term': 'Anemia'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D006453', 'term': 'Hemoglobinopathies'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D057165', 'term': 'Proteostasis Deficiencies'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D013118', 'term': 'Spinal Cord Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D016472', 'term': 'Motor Neuron Disease'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D057177', 'term': 'TDP-43 Proteinopathies'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D017096', 'term': 'Prion Diseases'}, {'id': 'D002494', 'term': 'Central Nervous System Infections'}, {'id': 'D007239', 'term': 'Infections'}, {'id': 'D007319', 'term': 'Sleep Initiation and Maintenance Disorders'}, {'id': 'D020919', 'term': 'Sleep Disorders, Intrinsic'}, {'id': 'D020920', 'term': 'Dyssomnias'}, {'id': 'D012893', 'term': 'Sleep Wake Disorders'}, {'id': 'D010182', 'term': 'Pancreatic Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D008171', 'term': 'Lung Diseases'}, {'id': 'D012140', 'term': 'Respiratory Tract Diseases'}, {'id': 'D007232', 'term': 'Infant, Newborn, Diseases'}, {'id': 'D009136', 'term': 'Muscular Dystrophies'}, {'id': 'D020966', 'term': 'Muscular Disorders, Atrophic'}, {'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D003704', 'term': 'Dementia'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D024801', 'term': 'Tauopathies'}, {'id': 'D019965', 'term': 'Neurocognitive Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}, {'id': 'D020141', 'term': 'Hemostatic Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006474', 'term': 'Hemorrhagic Disorders'}, {'id': 'D012868', 'term': 'Skin Abnormalities'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D003095', 'term': 'Collagen Diseases'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D001480', 'term': 'Basal Ganglia Diseases'}, {'id': 'D002819', 'term': 'Chorea'}, {'id': 'D020820', 'term': 'Dyskinesias'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D003072', 'term': 'Cognition Disorders'}, {'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D005733', 'term': 'Gangliosidoses'}, {'id': 'D020361', 'term': 'Paraneoplastic Syndromes, Nervous System'}, {'id': 'D009423', 'term': 'Nervous System Neoplasms'}, {'id': 'D009371', 'term': 'Neoplasms by Site'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D010257', 'term': 'Paraneoplastic Syndromes'}, {'id': 'D020274', 'term': 'Autoimmune Diseases of the Nervous System'}, {'id': 'D020511', 'term': 'Neuromuscular Junction Diseases'}, {'id': 'D001327', 'term': 'Autoimmune Diseases'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D006008', 'term': 'Glycogen Storage Disease'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1000}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2024-06-10', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-08', 'completionDateStruct': {'date': '2026-06-10', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-11-12', 'studyFirstSubmitDate': '2024-08-01', 'studyFirstSubmitQcDate': '2024-08-01', 'lastUpdatePostDateStruct': {'date': '2024-11-14', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-08-06', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-06-10', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Overall Survival (OS)', 'timeFrame': '5 Years'}, {'measure': 'Safety/tolerability of medications', 'timeFrame': '5 years'}, {'measure': 'Changes in normal development milestones', 'timeFrame': '5 years'}, {'measure': 'Changes in functional status', 'timeFrame': '5 years'}, {'measure': 'Changes in motor function', 'timeFrame': '5 years'}, {'measure': 'Changes in symptoms or clinical status', 'timeFrame': '5 years'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['rare diseases'], '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']}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '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.\n\nBeyond 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.\n\nTogether, 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.\n\nTraditional 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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'This study will include adult and pediatric patients with known or suspected rare disease.', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* 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:\n\nAlpha- 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)\n\n\\- 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\n\nExclusion Criteria:\n\n* Patient or LAR is unable to provide informed consent.\n* Patient resides in a country other than the United States and is unable to provide access to medical records."}, 'identificationModule': {'nctId': 'NCT06539169', 'briefTitle': 'FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases', 'organization': {'class': 'INDUSTRY', 'fullName': 'xCures'}, 'officialTitle': 'FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases', 'orgStudyIdInfo': {'id': 'XC-FLW-2024'}}, 'contactsLocationsModule': {'locations': [{'zip': '94022', 'city': 'Los Altos', 'state': 'California', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Mark Shapiro', 'role': 'CONTACT', 'email': 'expandedaccess@xcures.com', 'phone': '707-641-4475'}], 'facility': 'xCures', 'geoPoint': {'lat': 37.38522, 'lon': -122.11413}}], 'centralContacts': [{'name': 'Mark Shapiro, MS', 'role': 'CONTACT', 'email': 'expandedaccess@xcures.com', 'phone': '707-641-4475'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'xCures', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}