Baker Gordon Syndrome Natural History Study
Conditions: Rare Diseases; Autism or Autistic Traits; Development Delay; SYT-SSX Fusion Protein Expression; Sleep Disorder; Epilepsy, Generalized; Motor Delay Interventions: Diagnostic Test: Brain Magnetic Resonance Imaging (MRI); Genetic: Whole Genome Sequencing; Other: Induced Pluripotential Stem Cells Sponsors: University of Missouri-Columbia Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - May 6, 2024 Category: Research Source Type: clinical trials
A methodological review of randomised n-of-1 trials
Conclusionsn-of-1 trials are still underused and the application of the n-of-1 design for the evaluation of health technologies for rare diseases has been particularly limited. We have summarised the characteristics of randomised n-of-1 trials in rare and non-rare conditions. We hope that it can inform researchers in the design of future n-of-1 studies. Further work is required to provide guidance on specific design considerations, implementation, and statistical analysis of these studies.Trial registrationNot applicable. (Source: Trials)
Source: Trials - April 16, 2024 Category: Research Source Type: clinical trials
Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases
Conditions: Inborn Errors of Metabolism; Rare Diseases Interventions: Diagnostic Test: High resolution mass spectrometry Sponsors: Cliniques universitaires Saint-Luc- Universit é Catholique de Louvain Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - April 11, 2024 Category: Research Source Type: clinical trials
Detecting Mild Autonomous Cortisol Secretion in Patients With Adrenal Incidentaloma
Conditions: Mild Autonomous Cortisol Secretion (MACS) Interventions: Diagnostic Test: Various labs and imaging tests Sponsors: The Cleveland Clinic; Recordati Rare Diseases Not yet recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - April 3, 2024 Category: Research Source Type: clinical trials
Fluoxetine in KCNC1-related Disorder
Conditions: KCNC1 Related Disorder; Genetic Disease; Rare Diseases Interventions: Drug: Fluoxetine Sponsors: Holland Bloorview Kids Rehabilitation Hospital; The Hospital for Sick Children Enrolling by invitation (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - April 2, 2024 Category: Research Source Type: clinical trials
Gait and Balance Impairment in Rare and Very Rare Neurological Diseases
Conditions: Multiple Sclerosis; Parkinson Disease; Peripheral Neuropathy; Rare Diseases; Healthy; Healthy Aging Interventions: Other: Questionnaires, clinical scales and instrumental tests Sponsors: Istituto Auxologico Italiano; IRCCS Istituto Neurologico Carlo Besta Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - April 2, 2024 Category: Research Source Type: clinical trials
SciSparc Delivers Treatment for Autism Spectrum Disorder Clinical Trial Enabling Commencement of Dosing
TEL AVIV, Israel, Feb. 29, 2024. SciSparc Ltd. ( " Company " or " SciSparc " ), a specialty clinical-stage pharmaceutical company focusing on the development of therapies to treat disorders and rare diseases of the central nervous system, today announced... (Source: Drugs.com - Clinical Trials)
Source: Drugs.com - Clinical Trials - February 29, 2024 Category: Pharmaceuticals Source Type: clinical trials
Umbrella Study for Single Patient Treatments in Oncology
Conditions: Advanced Cancer; Rare Diseases Interventions: Other: Patient-specific treatments Sponsors: University Health Network, Toronto Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - February 29, 2024 Category: Research Source Type: clinical trials
Epilepsy Learning Healthcare System (ELHS)
Conditions: Epilepsy; Seizure Disorder; Neurologic Disorder; Rare Diseases Interventions: Other: Clinical care and quality improvement Sponsors: Epilepsy Foundation of America Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - February 19, 2024 Category: Research Source Type: clinical trials
MuSK Myasthenia 1000 Study
Conditions: Myasthenia Gravis; MuSK MG; MuSK Myasthenia Gravis Sponsors: Myasthenia Gravis Rare Disease Network Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - February 14, 2024 Category: Research Source Type: clinical trials
Myasthenia Gravis Registry in China
Conditions: Myasthenia Gravis Sponsors: Huashan Hospital; China Alliance for Rare Diseases; National Center for Neurological Disorders (China); China myasthenia gravis collaborating group (CMGCG) Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - February 5, 2024 Category: Research Source Type: clinical trials
Angioedema Biomarker Research Study
Conditions: Angioedema; Angioedemas, Hereditary; Urticaria; Mastocytosis; ACE Inhibitor-Induced Angioedema; C1 Inhibitor Deficiency; Systemic Mastocytoses; Indolent Systemic Mastocytosis Interventions: Diagnostic Test: Venipuncture Sponsors: Foundation For Rare Disease Research; Institute for Asthma& Allergy; Virant Diagnostics, Inc.; MedBio Reference Laboratories, Inc. Not yet recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - January 18, 2024 Category: Research Source Type: clinical trials
FDA Approval for Phase II Study of Silmitasertib in Patients with Community-Acquired Pneumonia Associated with Viral Infection
TAIPEI, Nov. 21, 2023. Senhwa Biosciences, Inc., a drug development company focusing on first-in-class therapeutics for oncology, rare diseases, and infectious diseases, announced today that U.S. Food and Drug Administration has approved its Phase... (Source: Drugs.com - Clinical Trials)
Source: Drugs.com - Clinical Trials - November 22, 2023 Category: Pharmaceuticals Source Type: clinical trials
SLC13A5 Deficiency Natural History Study - United States Only
Conditions: Citrate Transporter Deficiency; Epilepsy; Rare Diseases; Movement Disorders; Genetic Disorder; SLC13A5 Deficiency; EIEE25; Kohlschutter-Tonz Syndrome (Non-ROGDI); Citrate Transporter Disorder; DEE25 Sponsors: TESS Research Foundation; Stanford University; Brown University; University of Texas Southwestern Medical Center Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - November 22, 2023 Category: Research Source Type: clinical trials
Canadian Continuation of Roll-over Study in Patients With Endogenous Cushing's Syndrome
Conditions: Endogenous Cushing Syndrome Interventions: Drug: Intervention/Treatment Sponsors: Centre hospitalier de l ' Universit é de Montréal (CHUM); Recordati Rare Diseases Active, not recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - November 14, 2023 Category: Research Source Type: clinical trials
