Clinical trials: Rare Disease
Spinal Muscular Atrophy
A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi Arabia
The aim of this retrospective medical chart review is to describe the clinical outcomes, clinical characteristics, and demographics of patients with spinal muscular atrophy (SMA) type 1 treated with onasemnogene abeparvovec (OA)…
- Trial name
- SMA-REAL (NCT07737756)
- Volunteers
- 6 people
- Sponsor
- Novartis Pharmaceuticals
Cystic Fibrosis
Study of Uridine Triphosphate (UTP) as an Aerosol Spray for Cystic Fibrosis
OBJECTIVES: I. Determine the stability of uridine triphosphate (UTP) and examine the metabolism of exogenous nucleotides on airway epithelial surfaces in patients with cystic fibrosis. II.
- Trial name
- NCT00004705
- Testing
- amiloride, uridine
- Sponsor
- FDA Office of Orphan Products Development
Brain Tumors
SIMPLIFication of Care Pathways for Patients With Rare Brain Tumors Through Artificial Intelligence
This study focuses on rare brain tumors, which are heterogeneous entities with different morphological, biological, and clinical characteristics.
- Trial name
- SIMPLIF-AI (NCT06878469)
- Testing
- RehaCom
- Where
- 2 sites in Italy
- Volunteers
- 200 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Respiration Disorders
Randomized Study of Propofol Versus Fentanyl and Midazolam in Pediatric Patients Requiring Mechanical Ventilation and Sedation Therapy
OBJECTIVES: I. Assess the degree of amnesia afforded by study sedatives relative to the patient's intensive care unit experiences. II.
- Trial name
- NCT00004424
- Testing
- fentanyl, Midazolam, propofol
- Volunteers
- 120 people
- Sponsor
- FDA Office of Orphan Products Development
Obesity
Study to Investigate Genetic Causes of Severe Early Childhood Onset Obesity.
This study aims to investigate genetic causes of early childhood obesity. The investigators will enroll children and adults with severe early onset obesity (BMI > 99th percentile) diagnosed prior to 6 years of age.
- Trial name
- GECO (NCT01998750)
- Where
- 2 sites in United States
- Volunteers
- 500 people
- Sponsor
- Columbia University
Lymphoma, T-Cell, Peripheral
T-Cell Project: Prospective Collection of Data in Patients With Peripheral T-Cell Lymphoma
The designed study follows up the retrospective previous one by the International T-cell Non-Hodgkin's Lymphoma Study Group (International Peripheral T-Cell Lymphoma Project).
- Trial name
- NCT01142674
- Where
- 76 sites in United States, Argentina and 12 more
- Volunteers
- 1,650 people
- Sponsor
- Associazione Angela Serra per la ricerca sul cancro
Mitochondrial Enzyme Deficiencies
Dichloroacetate Treatment of Congenital Lactic Acidosis Phase B: Expanded Access
Expanded access to DCA as continued treatment for congenital lactic acidosis.
- Trial name
- CLA (NCT01797276)
- Testing
- Dichloroacetate
- Where
- United States
- Sponsor
- University of Florida
HIV Infections, Mycobacterium Infections
Phase II Placebo Controlled Study of Thalidomide in Patients With Mycobacterial and HIV Infections
OBJECTIVES: I. Evaluate whether thalidomide modulates toxic host inflammatory responses in patients receiving antitubercular therapy. II.
- Conditions
- HIV Infections, Mycobacterium Infections, Tuberculosis
- Trial name
- NCT00004276
- Testing
- thalidomide
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Spinal Cord Injury, Quadriplegia
Electrical Activation of The Diaphragm for Ventilatory Assist
OBJECTIVES: The objectives of this study are to test the Diaphragm Pacing Stimulation (DPS) System for treating chronic ventilatory insufficiency in persons with respiratory muscle paralysis.
- Trial name
- NCT00010374
- Testing
- NeuRx DPS
- Where
- 5 sites in United States, Canada
- Volunteers
- 54 people
- Sponsor
- Synapse Biomedical
Autism, Autism Spectrum Disorder
Autism Genomics Sweden - Genetic Guidance and Information Trial
This observational clinical trial aims to evaluate whether providing genetic information about the origins of autism and related psychiatric disorders enhances understanding, well-being, and empowerment in adolescents and young…
- Conditions
- Autism, Autism Spectrum Disorder, ADHD - Attention Deficit Disorder With Hyperactivity, Depression Anxiety Disorder
- Trial name
- AuGeS-GV (NCT06740760)
- Testing
- Genetic counselling, Leaflet
- Where
- Sweden
- Volunteers
- 63 people
- Sponsor
- Karolinska Institutet
Low Back Pain
Internet App to Self-Manage Occasional Low Back Pain
Nonspecific low back pain (NLBP) is the diagnosis for 85% of low back pain sufferers with no underlying medical cause (e.g., herniated disc, spinal stenosis) that requires physician care.
- Trial name
- BackPain2 (NCT01950091)
- Testing
- FitBack on-line intervention, Alternative Website Control
- Volunteers
- 606 people, healthy volunteers welcome
- Sponsor
- Oregon Center for Applied Science, Inc.
Cystinosis
Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With Cystinosis
OBJECTIVES: I. Determine the proportion of patients with cystinosis who experience a serious adverse effect when treated with a new formulation of cysteamine hydrochloride for corneal cystine accumulation. II.
- Trial name
- NCT00010426
- Testing
- cysteamine hydrochloride
- Volunteers
- 30 people
- Sponsor
- FDA Office of Orphan Products Development
Rare Diseases, Marfan Syndrome
Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment
The goal of this study observational prospective study is to define the facial morphological features associated with Marfan syndrome (MFS). The main qustion it aims to answer are: 1.
- Trial name
- FACE (NCT05702476)
- Where
- Italy
- Volunteers
- 140 people
- Sponsor
- IRCCS Policlinico S. Donato
Fistula in Ano
Role of Udumbara Sutra in the Management of Fistula in Ano a Rare Case Study
The anal fistula is a notorious disease due to its recurrence rate. Bhagandara is varyingly defined as a tear, ulcer or boil at Bhaga (Perianal region) within 2 finger circumference of it, causing painful abscess when opened is…
- Trial name
- Bhagandara (NCT01954225)
- Testing
- Udumbara Sutra
- Where
- India
- Volunteers
- 1 people
- Sponsor
- Government Ayurved College and Hospital
Haematological Malignancy, Colorectal Neoplasms
DETERMINE Trial Treatment Arm 04: Trastuzumab in Combination With Pertuzumab in Adult, Paediatric and Teenage/Young Adult Patients With Cancers With HER2 Amplification or Activating Mutations
This clinical trial is looking at a combination of drugs called trastuzumab and pertuzumab. This combination of drugs is approved together as standard of care treatment for adult patients with breast cancer (often with other…
- Conditions
- Haematological Malignancy, Colorectal Neoplasms, Urinary Bladder Neoplasm, Gallbladder Neoplasms
- Trial name
- DETERMINE (NCT05786716)
- Testing
- Trastuzumab, Pertuzumab
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Spinal Cord Injuries, Stroke
Evaluation of an Advanced Lower Extremity Neuroprostheses
The purpose of this study is to evaluate a surgically implanted functional electrical stimulation (FES) system to facilitate exercise, standing, stepping and/or balance in people with various degrees of paralysis.
- Conditions
- Spinal Cord Injuries, Stroke, Paralysis, Tetraplegia
- Trial name
- LE-IST (NCT00623389)
- Testing
- IST (Implanted Stimulator-Telemeter)
- Where
- 2 sites in United States
- Volunteers
- 10 people
- Sponsor
- Case Western Reserve University
Sarcoma, Malignant Mesenchymoma
The Sarcoma Biology and Outcome Project
SarcBOP - An interdisciplinary and translational registry SarcBOP aims to establish a database that integrates every aspect possibly relevant to sarcoma treatment and research.
- Conditions
- Sarcoma, Malignant Mesenchymoma, Sarcoma of Bone and Connective Tissue
- Trial name
- SarcBOP (NCT04758325)
- Where
- Germany
- Volunteers
- 3,000 people
- Sponsor
- Prof. Dr. Richard F Schlenk
Chronic Health Conditions, Older Age is Associated With Increased Pathogenicity
COV2Base-A Rare Disease by COVID Study
Background: SARS-CoV-2 is the virus that causes COVID. It has caused a global pandemic. Most people have no to mild symptoms. But some people need to be hospitalized, and a small number need critical care.
- Trial name
- NCT04564274
- Where
- United States
- Volunteers
- 1,748 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Epilepsy, GLUT1DS1
Long-term Treatment With the Ketogenic Diet in Epilepsy
This study will provide a comprehensive assessment of long-term treatment with the ketogenic diet, a medical diet with high fat and low carbohydrate intake, focusing on safety and cardiovascular implications.
- Conditions
- Epilepsy, GLUT1DS1, PDH Deficiency
- Trial name
- NCT04646850
- Testing
- Color duplex ultrasound of the carotid arteries
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Oslo University Hospital
Crigler Najjar Syndrome, Children
New Phototherapy Device to Treat Patients With Crigler-Najjar Disease
Evaluating the efficacity of a new device phototherapy by comparing it with conventional phototherapy. Jaundice occurs in many newborns, and is, in most cases benign, However, owing to the potential neurotoxicity of unconjugated…
- Trial name
- DRAP (NCT02356978)
- Testing
- Arm1 homemade phototherapy treatment, DRAP
- Where
- France
- Volunteers
- 6 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris