Clinical trials: Rare Disease
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
Hemophilia, Factor XIII Deficiency
Clinical Trial of Factor XIII (FXIII) Concentrate
Congenital deficiency of Factor XIII is a rare but potentially life threatening disorder. It is inherited in an autosomal recessive fashion.
- Trial name
- NCT00640289
- Testing
- Fibrogammin P
- Where
- United States
- Volunteers
- 72 people
- Sponsor
- Children's Hospital of Orange County
Mucopolysaccharidosis Type 7
An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
UX003-CL201 is an open-label Phase 1/2 study to assess the safety, efficacy, and dose of UX003 in MPS 7 patients via intravenous (IV) administration every other week (QOW) for 36 weeks with up to an additional 36 weeks from the…
- Trial name
- NCT01856218
- Testing
- UX003
- Where
- United Kingdom
- Volunteers
- 3 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
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
Idiopathic Pulmonary Fibrosis
Digital Auscultation Test - IPF Data Collection
The aim of this study is the data collection for patients with IPF and symptom matched controls to create a database of lung auscultation sounds and basic patient characteristics.
- Trial name
- NCT03503188
- Testing
- Littmann ®
- Where
- 10 sites in Germany
- Volunteers
- 274 people
- Sponsor
- Boehringer Ingelheim
MPS 7, Sly Syndrome
A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
The Phase 3 study will use a novel randomized, intra-subject placebo-controlled, single crossover design, referred to as Blind Start, to evaluate the safety and efficacy of UX003.
- Conditions
- MPS 7, Sly Syndrome, Mucopolysaccharidosis, MPS VII
- Trial name
- NCT02230566
- Testing
- UX003
- Where
- 4 sites in United States
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Relapsed/Refractory Waldenstrom Macroglobulinemia, Relapsed/Refractory Richter Transformation
Study of Brexucabtagene Autoleucel in Adults With Rare B-cell Malignancies
Master protocol: The goal of this master clinical study is to test how well the study drug, brexucabtagene autoleucel, works in participants with rare B-cell malignancies: relapsed/refractory Waldenstrom macroglobulinemia (r/r…
- Conditions
- Relapsed/Refractory Waldenstrom Macroglobulinemia, Relapsed/Refractory Richter Transformation, Relapsed/Refractory Burkitt Lymphoma, Relapsed/Refractory Hairy Cell Leukemia
- Trial name
- ZUMA-25 (NCT05537766)
- Testing
- Brexucabtagene Autoleucel, Cyclophosphamide, Fludarabine
- Where
- 26 sites in United States, Austria and 6 more
- Volunteers
- 19 people
- Sponsor
- Kite, A Gilead Company
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
Cystinosis
Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis
This was a long-term, open-label study of the safety, tolerability and effectiveness of RP103 in cystinosis patients who were naïve to any form of cysteamine treatment.
- Trial name
- NCT01744782
- Testing
- RP103
- Where
- 2 sites in United States, Brazil
- Volunteers
- 17 people
- Sponsor
- Amgen
Insomnia, Sleeplessness
Evaluation of Vestibular Stimulation to Help Occasional Sleeplessness
The purpose of this study is to determine whether a small electrical current to the vestibular nerve (balance organ) will decrease the time it take for participants to fall asleep.
- Conditions
- Insomnia, Sleeplessness, Transient Insomnia
- Trial name
- VSOM (NCT00594022)
- Testing
- Electric stimulation of the Vestibular Nerve - "VirtuSom"
- Where
- 6 sites in United States
- Volunteers
- 349 people, healthy volunteers welcome
- Sponsor
- Philips Respironics
Pulmonary Arterial Hypertension
Pharmacokinetics, Safety and Efficacy of BIA 5-1058 in PAH (Zamicastat)
This Study evaluates the pharmacokinetic (PK) profile of different zamicastat doses in Pulmonary arterial hypertension (PAH) patients to find the most promising therapeutic dosage range for the treatment of PAH disease
- Trial name
- NCT04316143
- Testing
- Oral zamicastat
- Where
- 13 sites in Austria, Germany and 5 more
- Volunteers
- 33 people
- Sponsor
- Bial - Portela C S.A.
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
Anemia, Hemosiderosis
Extension Study of Iron Chelation Therapy With Deferasirox in β-thalassemia and Rare Chronic Anemia Patients
A 1-year randomized Phase II core trial was conducted to investigate the efficacy of deferasirox in regularly transfused patients with β-thalassemia and other rare chronic anemia 2 years of age and older.
- Trial name
- NCT00303329
- Testing
- Deferasirox
- Where
- 28 sites in United States, Belgium and 5 more
- Volunteers
- 184 people
- Sponsor
- Novartis Pharmaceuticals
Non-squamous, Non-Small Cell Lung Cancer
The Study Observes How Long Patients With Non-small Cell Lung Cancer (NSCLC) Benefit From Treatment With Epidermal Growth Factor Tyrosine Kinase Inhibitor (EGFR-TKI) When Given Either for Uncommon Mutations or for Common Mutations in the Sequence Afatinib Followed by Osimertinib
Non-interventional, multi-country, multi-centre cohort study based on existing data from medical records (paper or electronic) or electronic health records of patients with advanced NSCLC harbouring EGFR mutations and treated…
- Trial name
- UpSwinG (NCT04179890)
- Testing
- Afatinib (Gi(l)otrif®), Erlotinib (Tarceva®), Gefitinib (IRESSA®)
- Where
- United Kingdom
- Volunteers
- 462 people
- Sponsor
- Boehringer Ingelheim
Cystinosis
Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inheritable disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT00872729
- Testing
- Cystagon®, RP103
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Amgen
Huntington Disease
A Study to Evaluate the Safety and Efficacy of PTC518 in Participants With Huntington's Disease (HD)
The primary goal of this study is to evaluate the safety and pharmacodynamic effects of PTC518 compared with placebo in participants with HD.
- Trial name
- NCT05358717
- Testing
- PTC518
- Where
- 28 sites in United States, Australia and 9 more
- Volunteers
- 159 people
- Sponsor
- Novartis Pharmaceuticals
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
Siderosis, Neurological Disorder
Audiovestibular Function in Infratentorial Superficial Siderosis
One in six people in the United Kingdom and over 400 million people worldwide have disabling hearing loss. This figure will double by 2050 as predicted by the World Health Organisation.
- Conditions
- Siderosis, Neurological Disorder, Rare Diseases, Age Related Hearing Loss
- Trial name
- AViSS (NCT04200664)
- Testing
- Hearing assessment, Vestibular/balance assessment, Quality of life assessment
- Where
- 2 sites in United Kingdom
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- University College, London
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
Osteogenesis Imperfecta
Post-market Observational Study on JTIN Telescopic Nail in Osteogenesis Imperfecta Pediatric Patients
This study has been planned as part of the Orthofix Srl post-market active surveillance plan for the collection of data on both the clinical performance and the safety profile of the JTIN.
- Trial name
- JTIN (NCT05612139)
- Testing
- JTIN implantation surgery
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Orthofix s.r.l.