Clinical trials: Rare Disorders
Ewing Sarcoma, Ewing Family of Tumors
A Trial For Participants With Ewing's Sarcoma Treated With Vigil in Combination With Irinotecan and Temozolomide
The goal of this clinical trial was to compare participants with first relapse or refractory Ewing's sarcoma when treated with investigational product (Vigil) in addition to the standard treatment of irinotecan and temozolomide…
- Conditions
- Ewing Sarcoma, Ewing Family of Tumors, Ewing's Tumor Metastatic, Ewing's Sarcoma Metastatic
- Trial name
- VITA (NCT03495921)
- Testing
- Vigil, Irinotecan, Temozolomide
- Where
- 15 sites in United States
- Volunteers
- 32 people
- Sponsor
- Gradalis, Inc.
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Sly Syndrome, MPS VII
Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age
The primary objective was to evaluate the effect of UX003 treatment in pediatric MPS VII participants less than 5 years of age on safety, tolerability, and efficacy as determined by the reduction of urinary glycosaminoglycans…
- Conditions
- Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
- Trial name
- NCT02418455
- Testing
- UX003
- Where
- 5 sites in United States, Portugal and 1 more
- Volunteers
- 8 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Schizophrenia
Repetitive Transcranial Magnetic Stimulation for "Voices"
OBJECTIVES: I. Determine the effect of repetitive transcranial magnetic stimulation on treatment refractory auditory hallucinations of patients with schizophrenia.
- Trial name
- NCT00004980
- Testing
- repetitive transcranial magnetic stimulation (rTMS)
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Yale University
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
Mucopolysaccharidosis II, MPS II
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
The purpose of the study is to evaluate the safety, tolerability and effect on leukocyte and plasma Iduronate 2-Sulfatase (IDS) enzyme activity of ascending doses of SB-913.
- Trial name
- NCT03041324
- Testing
- SB-913
- Where
- 5 sites in United States
- Volunteers
- 9 people
- Sponsor
- Sangamo Therapeutics
Porphyria Cutanea Tarda
Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda
Porphyria cutanea tarda (PCT) is an iron-related disorder that responds to treatment by phlebotomy or low-dose hydroxychloroquine, but comparative data on these treatments are limited.
- Trial name
- NCT01573754
- Testing
- Hydroxychloroquine, Phlebotomy
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- The University of Texas Medical Branch, Galveston
Osteoporosis
Phase II Study of Alendronate Sodium in Children With High-Turnover Idiopathic Juvenile Osteoporosis
OBJECTIVES: I. Determine the effects of alendronate sodium on skeletal remodeling and bone mineral density of the hip and spine in children with high-turnover idiopathic juvenile osteoporosis.
- Trial name
- NCT00010439
- Testing
- Alendronate
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Medical University of South Carolina
Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM)
Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)
This study will evaluate the safety and efficacy of RAD001 in treating patients with Angiomyolipoma associated with Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis.
- Trial name
- EXIST-2 (NCT00790400)
- Testing
- Everolimus (RAD001)
- Where
- 25 sites in United States, Canada and 9 more
- Volunteers
- 118 people
- Sponsor
- Novartis Pharmaceuticals
Aspergillosis, Invasive Fungal Infections
Isavuconazole in the Treatment of Renally Impaired Aspergillosis and Rare Fungi
The purpose of this study is to investigate the efficacy and safety of isavuconazole in the treatment of renally impaired participants with invasive fungal infections caused by Aspergillus and participants with invasive fungal…
- Trial name
- VITAL (NCT00634049)
- Testing
- isavuconazole
- Where
- 96 sites in United States, Argentina and 17 more
- Volunteers
- 149 people
- Sponsor
- Astellas Pharma Inc
Transfusional Iron Overload, β-thalassemia Major
A 4-year Extension Study to Core 1-year Study of Iron Chelation Therapy With Deferasirox in β-thalassemia Major Pediatric Patients With Transfusional Iron Overload.
In this 4-year extension study the safety, efficacy and and pharmacokinetics of deferasirox in regularly transfused pediatric patients with β-thalassemia major was assessed.
- Conditions
- Transfusional Iron Overload, β-thalassemia Major, Pediatric Rare Anemia
- Trial name
- NCT00390858
- Testing
- Deferasirox
- Where
- 4 sites in France, Italy
- Volunteers
- 40 people
- Sponsor
- Novartis Pharmaceuticals
Cystinosis
Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis
The purpose of this study is to gather information about the effectiveness (how well it works to treat cystinosis) and safety of a new form of cysteamine bitartrate called RP103, compared to the already-approved drug cystinosis…
- Trial name
- NCT01733316
- Testing
- RP103, Cystagon®
- Where
- 14 sites in United States, Belgium and 4 more
- Volunteers
- 41 people
- Sponsor
- Amgen
Beta-thalassemia Major, Hemosiderosis
Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration)
To allow patients treated with deferasirox in the core study to continue iron chelation therapy for 2 years or until the drug became locally commercially available.
- Conditions
- Beta-thalassemia Major, Hemosiderosis, Iron Overload, Rare Anemia
- Trial name
- ESCALATOR (NCT00171301)
- Testing
- Deferasirox
- Where
- 5 sites in Egypt, Lebanon and 3 more
- Volunteers
- 233 people
- Sponsor
- Novartis Pharmaceuticals
Urea Cycle Disorders
PCORI Urea Cycle Disorder Study
Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain.
- Trial name
- NCT02740153
- Testing
- No Intervention Given
- Where
- United States
- Volunteers
- 187 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Adrenocortical Carcinoma, Peritoneal Carcinomatosis
Surgery and Heated Chemotherapy for Adrenocortical Carcinoma
Background: Adrenocortical carcinoma (ACC) is a rare tumor of the adrenal gland. Few people who develop this disease live more than 5 years after being diagnosed.
- Trial name
- NCT01833832
- Testing
- Cisplatin, Cytoreductive surgery, sodium thiosulfate
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- National Cancer Institute (NCI)
IgA Nephropathy, CKD Associated With Type 1 Diabetes
A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases - PHOENIX
This multi-center, open-label Phase 2 trial will study the safety, tolerability, and efficacy of bardoxolone methyl in qualified patients with the following rare chronic kidney diseases (CKD): CKD associated with type 1 diabetes…
- Conditions
- IgA Nephropathy, CKD Associated With Type 1 Diabetes, Focal Segmental Glomerulosclerosis, Autosomal Dominant Polycystic Kidney
- Trial name
- PHOENIX (NCT03366337)
- Testing
- Bardoxolone methyl capsules
- Where
- 30 sites in United States
- Volunteers
- 103 people
- Sponsor
- Biogen
Neuroblastoma, Medulloblastoma
Molecular-Guided Therapy for Relapsed and Refractory Childhood Cancer
The purpose of this study is to test the feasibility (ability to be done) of experimental technologies to determine a tumor's molecular makeup (gene expression profile) and mutations.
- Conditions
- Neuroblastoma, Medulloblastoma, Brain Tumors, Rare Tumors
- Trial name
- NCT01802567
- Testing
- Guided Therapy- Pediatric Gene Analysis Platform
- Where
- 13 sites in United States
- Volunteers
- 52 people
- Sponsor
- Giselle Sholler
Pancreatic Neoplasm, Pituitary Neoplasm
Study of Pasireotide in Patients With Rare Tumors of Neuroendocrine Origin
This study will assess the effectiveness and safety of pasireotide long-acting release in patients who have rare tumors of neuroendocrine origin.
- Conditions
- Pancreatic Neoplasm, Pituitary Neoplasm, Nelson Syndrome, Ectopic ACTH Syndrome
- Trial name
- NCT00958841
- Testing
- pasireotide LAR
- Where
- 42 sites in United States, Argentina and 10 more
- Volunteers
- 118 people
- Sponsor
- Novartis Pharmaceuticals
Nasopharyngeal Neoplasms
Safety and Efficacy of CC-486 in Previously Treated Patients With Locally Advanced or Metastatic Nasopharyngeal Carcinoma
The purpose of this study is to evaluate the safety and efficacy of CC-486 in previously treated patients with locally advanced or metastatic nasopharyngeal carcinoma having failed one to two previous regimens, including…
- Trial name
- NCT02269943
- Testing
- CC-486
- Where
- 25 sites in United States, Canada and 7 more
- Volunteers
- 36 people
- Sponsor
- Celgene
Tumors With Aberrations in ALK, Anaplastic Large Cell Lymphoma
Ceritinib Rare Indications Study in ALK+ Tumors
This is Proof-of-Concept (POC) study to assess the preliminary antitumor activity and safety and tolerablity using ceritinib (LDK378) in the treatment of life threatening tumors that are characterized by ALK genetic alteration…
- Conditions
- Tumors With Aberrations in ALK, Anaplastic Large Cell Lymphoma, Inflammatory Myofibroblastic Tumor, Glioblastoma
- Trial name
- NCT02465528
- Testing
- Ceritinib (LDK378)
- Where
- 14 sites in Czechia, Denmark and 6 more
- Volunteers
- 22 people
- Sponsor
- Novartis Pharmaceuticals