Clinical trials: Rare Diseases
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
Tay-Sachs Disease, Sandhoff Disease
A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2
Primary Objectives: Primary population (adult participants with late-onset GM2 gangliosidosis): To assess the efficacy and pharmacodynamics (PD) of daily oral dosing of venglustat when administered over a 104-week period…
- Trial name
- AMETHIST (NCT04221451)
- Testing
- venglustat GZ402671
- Where
- 23 sites in United States, Argentina and 11 more
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Lung Cancer
Osimertinib Plus Chemotherapy in Uncommon EGFRm NSCLC
This is an open-label, single-arm, multicenter, exploratory Phase II study sponsored by Astrazeneca Investment (China) Co., LTD.
- Trial name
- MINOVA (NCT05215951)
- Testing
- osimertinib
- Where
- 6 sites in China
- Volunteers
- 4 people
- Sponsor
- AstraZeneca
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
Duchenne Muscular Dystrophy (DMD)
A Study to Assess Safety/Tolerability, pk, Effects on Histology, Clinical Parameters of Givinostat in Children With DMD
The primary objective of Parts 1 and 2 of the study were to establish the histologic effects of givinostat administered chronically at the selected daily dose.
- Trial name
- NCT01761292
- Testing
- Givinostat
- Where
- 4 sites in Italy
- Volunteers
- 20 people
- Sponsor
- Italfarmaco
Epilepsy
Open-Label PoC Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies
To evaluate the efficacy of open-label ganaxolone as adjunctive therapy for uncontrolled seizures in female children with PCDH19 mutation and other rare genetic epilepsies in an open-label proof-of-concept study.
- Trial name
- NCT02358538
- Testing
- Ganaxolone
- Where
- 10 sites in United States, Italy
- Volunteers
- 30 people
- Sponsor
- Marinus 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
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
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.
Rare Diseases
A Study to Evaluate Emapalumab in Japanese Healthy Volunteers.
This is a randomized, placebo controlled and double-blinded study to evaluate the pharmacokinetics (PK), pharmacodynamics (PD) and safety of a single dose (1 mg/kg) of emapalumab in adult healthy Japanese subjects.
- Trial name
- NCT04765553
- Testing
- NI-0501, Saline
- Where
- Japan
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Swedish Orphan Biovitrum
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
Cancer
Efficacy and Safety of the Combination Therapy of Dabrafenib and Trametinib in Subjects With BRAF V600E- Mutated Rare Cancers
This was a Phase II, open-label, non-randomized, multi-center study of oral dabrafenib in combination with oral trametinib in subjects with rare cancers harboring the BRAF V600E mutation including anaplastic thyroid cancer (ATC)…
- Trial name
- NCT02034110
- Testing
- Dabrafenib, Trametinib
- Where
- 41 sites in United States, Austria and 12 more
- Volunteers
- 206 people
- Sponsor
- Novartis Pharmaceuticals
Choroidal Neovascularization, Macular Edema
An Open-label Extended Clinical Protocol of Ranibizumab to Evaluate Safety and Efficacy in Rare VEGF Driven Ocular Diseases.
The pupose of this study is to evaluate the safety and the efficacy of ranibizumab in rare VEGF driven ocular diseases.
- Conditions
- Choroidal Neovascularization, Macular Edema, Glaucoma, Neovascular, Diabetic Retinopathy
- Trial name
- ECLIPSE (NCT01908816)
- Testing
- ranibizumab
- Where
- 39 sites in France
- Volunteers
- 270 people
- Sponsor
- Novartis Pharmaceuticals
Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Efficacy and Safety Study of I10E in Treatment of Patients With CIDP
Primary objective: To assess the efficacy of I10E in improving the disability of patients with CIDP. Secondary objective: To assess the safety of I10E in patients with CIDP.
- Trial name
- PRISM (NCT02293460)
- Testing
- I10E
- Where
- 33 sites in France, Italy and 4 more
- Volunteers
- 44 people
- Sponsor
- Laboratoire français de Fractionnement et de Biotechnologies
Advanced Malignant Solid Neoplasm, Carcinoma of Unknown Primary
Pembrolizumab in Treating Patients With Rare Tumors That Cannot Be Removed by Surgery or Are Metastatic
This phase II trial studies how well pembrolizumab works in treating patients with rare tumors that cannot be removed by surgery or have spread to other parts of the body.
- Conditions
- Advanced Malignant Solid Neoplasm, Carcinoma of Unknown Primary, Metastatic Adrenal Gland Pheochromocytoma, Metastatic Kidney Medullary Carcinoma
- Trial name
- NCT02721732
- Testing
- Laboratory Biomarker Analysis, Pembrolizumab, Questionnaire Administration
- Where
- United States
- Volunteers
- 157 people
- Sponsor
- M.D. Anderson Cancer Center
Genetic Obesity, Obesity
Setmelanotide Phase 2 Treatment Trial in Participants With Rare Genetic Disorders of Obesity
The purpose of the study was to determine the effect of setmelanotide (RM-493) on weight, hunger assessments, and other factors in participants with rare genetic disorders of obesity.
- Conditions
- Genetic Obesity, Obesity, Obesity Due to Melanocortin 4 Receptor Deficiency
- Trial name
- NCT03013543
- Testing
- Setmelanotide
- Where
- 58 sites in United States, Canada and 7 more
- Volunteers
- 213 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
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
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
Kohlmeier Degos Disease With Neurologic Involvement, Kohlmeier-Degos Disease
JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease
Background: Kohlmeier-Degos (K-D) is a rare disease that leads to the inflammation and/or blockage of small blood vessels in many organs; these can include the skin, eyes (rare), small bowels, lungs, heart, and the brain and…
- Trial name
- NCT05998395
- Testing
- Ruxolitinib
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Cystinosis
Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inherited 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
- NCT01000961
- Testing
- Cystagon® (Cysteamine Bitartrate), Cysteamine Bitartrate Delayed-release Capsules (RP103)
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 43 people
- Sponsor
- Amgen