FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases

Trial Title: FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases

NCT ID: NCT06539169

Condition: 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

Conditions: Official terms:
Creutzfeldt-Jakob Syndrome
Myasthenia Gravis
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Cystic Fibrosis
Alzheimer Disease
Motor Neuron Disease
Amyotrophic Lateral Sclerosis
Huntington Disease
Gaucher Disease
Glycogen Storage Disease Type II
Gangliosidoses
Gangliosidosis, GM1
Cardiomyopathies
Ehlers-Danlos Syndrome
Anemia, Sickle Cell
Thalassemia
beta-Thalassemia
alpha-Thalassemia
Amyloidosis
Rare Diseases

Conditions: Keywords:
rare diseases

Study type: Observational

Overall status: Recruiting

Study design:

Time perspective: Cross-Sectional

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.

Detailed description: 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.

Criteria for eligibility:

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

Sampling method: Non-Probability Sample
Criteria:
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.

Gender: All

Minimum age: N/A

Maximum age: N/A

Healthy volunteers: No

Locations:

Facility:
Name: xCures

Address:
City: Los Altos
Zip: 94022
Country: United States

Status: Recruiting

Contact:
Last name: Mark Shapiro

Phone: 707-641-4475
Email: expandedaccess@xcures.com

Start date: June 10, 2024

Completion date: June 10, 2026

Lead sponsor:
Agency: xCures
Agency class: Industry

Source: xCures

Record processing date: ClinicalTrials.gov processed this data on November 12, 2024

Source: ClinicalTrials.gov page: https://clinicaltrials.gov/ct2/show/NCT06539169