Genetic Disease

Rolandic Epilepsy Genomewide Association International Study

Condition:   Rolandic Epilepsy
Interventions:   Other: Blood draw;   Other: Existing samples
Sponsors:   King’s College London;   King’s College Hospital NHS Trust;   Guy’s and St Thomas’ NHS Foundation Trust;   Cardiff University;   The Hospital for Sick Children;   Hospital JP Garrahan;   Aghia Sophia Children’s Hospital of Athens;   Commissione Genetica Lega Italiana contro l’Epilepssia;   Sicilian Epilepsy Network;   Hospital Mutua de Terrassa;   Seattle Children’s Hospital;   Hasbro Children’s Hospital;   Columbia University
Recruiting
ClinicalTrials.gov: Genetic_Disease | Recruiting, Not yet recruiting, Available Studies | United States | First posted in the last 100 days

June 11, 2018 / by / in
Efficacy and Safety Study of Tisotumab Vedotin for Patients With Solid Tumors

Conditions:   Colorectal Neoplasms;   Carcinoma, Non-Small-Cell Lung;   Exocrine Pancreatic Cancer;   Carcinoma, Squamous Cell of Head and Neck
Intervention:   Drug: tisotumab vedotin
Sponsors:   Seattle Genetics, Inc.;   Genmab
Recruiting
ClinicalTrials.gov: Genetic_Disease | Recruiting, Not yet recruiting, Available Studies | United States | First posted in the last 100 days

June 10, 2018 / by / in
INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP

Conditions:   Acute Hepatic Porphyria;   Hepatic Porphyrias;   Acute Intermittent Porphyria (AIP);   Hereditary Coproporphyria (HCP);   Variegate Porphyria (VP);   ALA Dehydratase Deficient Porphyria (ADP);   Porphyria Acute
Intervention:  
Sponsor:   Alnylam Pharmaceuticals
Recruiting
ClinicalTrials.gov: Genetic_Disease | Recruiting, Not yet recruiting, Available Studies | United States | First posted in the last 100 days

June 9, 2018 / by / in
Role of Interferon-gamma 1-b (IFN-γ) on Cells of the Innate Immune System: Functional, Biochemical and Gene Expression Studies in Patients With Chronic Granulomatous Disease

Condition:   Chronic Granulomatous Disease
Intervention:   Drug: Interferon Gamma-1B
Sponsor:   University of Colorado, Denver
Recruiting
ClinicalTrials.gov: Genetic_Disease | Recruiting, Not yet recruiting, Available Studies | United States | First posted in the last 100 days

June 8, 2018 / by / in
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

Conditions:   Epilepsy; Seizure;   Neuromuscular Diseases;   Brain Malformation;   Intellectual Disability;   Autism Spectrum Disorder;   Hypotonia;   Inborn Errors of Metabolism;   Movement Disorders;   Genetic Disease;   Development Delay;   Chromosome Abnormality;   Hearing Loss;   Dysmorphic Features;   Skeletal Dysplasia;   Congenital Abnormality;   Microcephaly;   Macrocephaly
Interventions:   Behavioral: Pre-visit prep;   Diagnostic Test: usual care + exome seq
Sponsors:   University of North Carolina, Chapel Hill;   National Human Genome Research Institute (NHGRI);   East Carolina University;   Mission Health System, Asheville, NC
Not yet recruiting
ClinicalTrials.gov: Genetic_Disease | Recruiting, Not yet recruiting, Available Studies | United States | First posted in the last 100 days

June 7, 2018 / by / in
Longitudinal Early-onset Alzheimer’s Disease Study Protocol

Conditions:   Early Onset Alzheimer Disease;   Alzheimer Disease;   Mild Cognitive Impairment
Interventions:   Drug: Flortaucipir;   Drug: Florbetaben
Sponsors:   Liana Apostolova;   Alzheimer’s Therapeutic Research Institute;   National Institute on Aging (NIA);   Alzheimer’s Association
Recruiting
ClinicalTrials.gov: Genetic_Disease | Recruiting, Not yet recruiting, Available Studies | United States | First posted in the last 100 days

June 6, 2018 / by / in
Building Sentences With Preschoolers Who Use AAC

Conditions:   Down Syndrome;   Speech and Language Disorder;   Speech Disorders in Children;   Speech Intelligibility;   Speech Sound Disorder
Interventions:   Behavioral: AAC Generative Language Intervention;   Behavioral: Standard of Care / Business as Usual
Sponsors:   University of Central Florida;   University of New Mexico
Recruiting
ClinicalTrials.gov: Genetic_Disease | Recruiting, Not yet recruiting, Available Studies | United States | First posted in the last 100 days

May 31, 2018 / by / in