Developmental and Epileptic Encephalopathies (DEEs) with a genetic cause represent a complex group of neurodevelopmental disorders characterized by intellectual disability and drug-resistant epilepsy. Because targeted, disease-modifying precision therapies like gene replacement and antisense oligonucleotides are rapidly approaching clinical trials, establishing objective diagnostic, prognostic, and therapeutic biomarkers is an urgent priority.
Official registry: https://clinicaltrials.gov/study/NCT07909382 · Istituto Giannina Gaslini · enrollment listed as 200
This is an observational study. You are not assigned a new experimental drug. Researchers measure what already happens in your care or in daily life.
Phase labels are FDA/ICH categories applied to the registry Phase field. They are not a finding that this study succeeded.
This listing is observational (StudyType). The registry does not assign a new experimental drug as the study intervention.
They plan to enroll about 200 people at 14 sites. Taking part typically means study visits and measurements plus check-ins.
Identification and Integration of Multi-omic Biomarkers for the Characterization of Patients With Developmental and Epileptic Encephalopathies (DEE) With a View to Clinical Trials / Identificazione e Integrazione di Multi-omici Biomarcatori Per la Caratterizzazione Dei Pazienti Con Encefalopatie Epilettiche e Dello Sviluppo (DEE) in Vista Dei Trials Clinici
Primary outcome (registry wording): Neurophysiological profiling of DEE patients.
Pasquale Striano, MD, PHD
Published on ClinicalTrials.gov. Contact them as a possible participant. They decide eligibility.
We will investigate the clinical manifestations and molecular genetic defects of heritable urologic malignant disorders. Families with urologic malignancy with known or suspected genetic basis will be enrolled.
NCT00001238 · Official ClinicalTrials.gov record · National Cancer Institute (NCI)
This protocol will evaluate patients with systemic lupus erythematosus (SLE) and their relatives to learn more about how the disease develops and changes over time. It will also study genetic factors that make a person susceptible to SLE.
NCT00001372 · Official ClinicalTrials.gov record · National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases. The following individuals may be eligible for this natural history study: 1) patients with known or suspected familial Mediterranean fever, TRAPS, hyper-IgD syndrome or related disorders; 2) relatives of these patients; 3) healthy, normal volunteers 7 years of age or older.
NCT00001373 · Official ClinicalTrials.gov record · National Human Genome Research Institute (NHGRI)
The sponsor posted status “Recruiting” on ClinicalTrials.gov at last ingest. Sites can pause independently. Confirm with the official record and the listed contact.
Not a traditional drug phase. Phase labels are FDA/ICH categories applied to the registry Phase field. They are not a finding that this study succeeded.
No. The inclusion and exclusion lists on this page are readable extracts of the public eligibility block. Only the study team can screen you.
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