Clinical trials: Rare Diseases
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
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
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.
Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Efficacy and Safety Study of I10E in the Maintenance Treatment of Patients With CIDP: Extension of PRISM Study I10E-1302
Primary objective: To assess the efficacy of I10E administered at a reduced maintenance dose in sustaining CIDP response after an initial 6-month treatment in PRISM study. (I10E-1302).
- Trial name
- PRISM2 (NCT02317562)
- Testing
- I10E
- Where
- 30 sites in France, Italy and 4 more
- Volunteers
- 19 people
- Sponsor
- Laboratoire français de Fractionnement et de Biotechnologies
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
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
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
Dravet Syndrome, Lennox Gastaut Syndrome
A Study to Investigate the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Children and Adults With Epileptic Encephalopathy Including Dravet Syndrome and Lennox-Gastaut Syndrome
This is an international, multicenter, open-label, long-term safety study of ZX008 in subjects with Dravet syndrome, Lennox-Gastaut syndrome or epileptic encephalopathy
- Conditions
- Dravet Syndrome, Lennox Gastaut Syndrome, Epileptic Encephalopathy
- Trial name
- NCT03936777
- Testing
- ZX008 (Fenfluramine Hydrochloride)
- Where
- 71 sites in United States, Australia and 12 more
- Volunteers
- 412 people
- Sponsor
- Zogenix, Inc.
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
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
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
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
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
Meconium Aspiration
Phase III Randomized Study of Lucinactant in Full Term Newborn Infants With Meconium Aspiration Syndrome
OBJECTIVES: Evaluate the safety and efficacy of lucinactant administered by bronchoalveolar lavage (BAL) in the treatment of meconium aspiration syndrome (MAS) in newborn infants.
- Trial name
- NCT00004500
- Testing
- Lucinactant, Standard Care
- Where
- United States
- Volunteers
- 69 people
- Sponsor
- Windtree Therapeutics
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
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
Invasive Fungal Infections
Open-label Study of APX001 for Treatment of Patients With Invasive Mold Infections Caused by Aspergillus or Rare Molds
This is a Phase 2, multicenter study to evaluate APX001 for the treatment of invasive fungal infections caused by Aspergillus spp. or rare molds (eg, Scedosporium spp., Fusarium spp., and Mucorales fungi).
- Trial name
- AEGIS (NCT04240886)
- Testing
- fosmanogepix
- Where
- 15 sites in United States, Belgium and 2 more
- Volunteers
- 21 people
- Sponsor
- Basilea Pharmaceutica
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
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
Sly Syndrome, MPS VII
A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
The primary objective of the study is to evaluate the long-term safety of UX003 in subjects with MPS 7.
- Conditions
- Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
- Trial name
- NCT02432144
- Testing
- UX003
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc