Clinical trials: Rare Diseases
Idiopathic Pulmonary Fibrosis
23andMe IPF Research Study
The long term goal of this study is to increase genetic understanding of IPF to enable the development of an effective drug for IPF that can improve the lives of those living with the condition.
- Trial name
- IPF (NCT05028894)
- Testing
- No intervention
- Where
- United States
- Volunteers
- 690 people
- Sponsor
- 23andMe, Inc.
Rare Diseases
A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives
To collect, preserve, and distribute annotated leukopak biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and…
- Trial name
- NCT05794217
- Testing
- This is a non-interventional study
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
Bullous Pemphigoid
A Study to Investigate the Use of Benralizumab in Patients With Bullous Pemphigoid.
The purpose of this study is to investigate the use of benralizumab is effective in the treatment of patients symptomatic Bullous Pemphigoid (BP).
- Trial name
- FJORD (NCT04612790)
- Testing
- Benralizumab
- Where
- 39 sites in United States, Australia and 9 more
- Volunteers
- 67 people
- Sponsor
- AstraZeneca
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
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
Ewing's Sarcoma, Ewing Family of Tumors
Pbi-shRNA™ EWS/FLI1 Type 1 LPX in Subjects With Advanced Ewing's Sarcoma
The purpose of this study is to determine the safety and the maximum tolerated dose of of pbi-shRNA™ EWS/FLI1 Type 1 lipoplex in patients with advanced Ewing's sarcoma.
- Conditions
- Ewing's Sarcoma, Ewing Family of Tumors, Ewing's Tumor Metastatic, Ewing's Sarcoma Metastatic
- Trial name
- NCT02736565
- Testing
- pbi-shRNA™ EWS/FLI1 Type 1 Lipoplex
- Where
- 2 sites in United States
- Volunteers
- 7 people
- Sponsor
- Gradalis, Inc.
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
HER2-positive Breast Cancer, HER2 Gene Mutation
Study of A166 in Patients With Relapsed/Refractory Cancers Expressing HER2 Antigen or Having Amplified HER2 Gene
Open-label, Phase I-II, first-in-human (FIH) study for A166 monotherapy in HER2-expressing or amplified patients who progressed on or did not respond to available standard therapies.
- Conditions
- HER2-positive Breast Cancer, HER2 Gene Mutation, HER-2 Gene Amplification, HER2 Positive Gastric Cancer
- Trial name
- NCT03602079
- Testing
- A166
- Where
- 10 sites in United States
- Volunteers
- 49 people
- Sponsor
- Klus Pharma Inc.
Homozygous Familial Hypercholesterolemia (HoFH)
A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)
This first-in-human study is intended to evaluate the safety and preliminary effectiveness of AAV (Adeno-associated virus)-based liver-directed gene therapy in the treatment of adults with Homozygous Familial Hypercholesterolemia…
- Trial name
- NCT02651675
- Testing
- AAV directed hLDLR gene therapy
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 9 people
- Sponsor
- REGENXBIO Inc.
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.
Homozygous Familial Hypercholesterolemia (HoFH)
A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501
This long-term observational study is designed to follow subjects who, during another Clinical Study, received gene therapy treatment used to treat their Homozygous Familial Hypercholesterolemia (HoFH) disease.
- Trial name
- NCT04080050
- Testing
- Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene Therapy
- Where
- 6 sites in United States, Canada and 1 more
- Volunteers
- 8 people
- Sponsor
- REGENXBIO Inc.
Choroideremia
Natural Disease Progression in Participants With Choroideremia
The primary objective of this study is to quantify disease progression measured by best corrected visual acuity (BCVA) in the real-world setting among Choroideremia (CHM) participants.
- Trial name
- NCT04795206
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 1,178 people
- Sponsor
- Biogen
Mitochondrial Diseases, Pearson Syndrome
A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome
Mitochondrial diseases are a genetically heterogeneous group of disorders caused by mutations or deletions in mitochondrial DNA (mtDNA) displaying a wide range of severity and phenotypes.
- Trial name
- NCT03384420
- Testing
- CD34+ cells enriched with MNV-BLD
- Where
- Israel
- Volunteers
- 7 people
- Sponsor
- Minovia Therapeutics Ltd.
Amyotrophic Lateral Sclerosis
GM604 Phase 2A Randomized Double-blind Placebo Controlled Pilot Trial in Amyotrophic Lateral Disease (ALS)
GM604 is an endogenous human embryonic stage neural regulatory and signaling peptide that controls the development, monitoring and correction of the human nervous system.
- Trial name
- GALS (NCT01854294)
- Testing
- GM604
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Genervon Biopharmaceuticals, LLC
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
Homozygous Familial Hypercholesterolemia (HoFH)
Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients
This study is designed to help identify patients with HoFH due to mutations in the LDLR as confirmed by genotyping.
- Trial name
- NCT04148001
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- REGENXBIO Inc.
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
Paroxysmal Nocturnal Hemoglobinuria
A Safety and Immunogenicity Study in Long-term Treatment of Eculizumab (JSC "GENERIUM", Russian Federation)
A safety and immunogenicity study in long-term treatment of Eculizumab (JSC "GENERIUM", Russian Federation) in patients with paroxysmal nocturnal hemoglobinuria, who have been involved earlier in the clinical trials of Eculizumab…
- Trial name
- NAP (NCT04679103)
- Testing
- Eculizumab (JSC GENERIUM, Russia)
- Where
- 9 sites in Russia
- Volunteers
- 50 people
- Sponsor
- AO GENERIUM
Rare Diseases
NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants
Prospective, multi-site, study to evaluate the clinical utility of cWGS in a proband. One group will receive cWGS and a clinical report approximately 15 days after blood samples are received, while the other group will continue…
- Trial name
- NICU-Seq (NCT03290469)
- Testing
- clinical whole genome sequencing (cWGS)
- Where
- 5 sites in United States
- Volunteers
- 355 people
- Sponsor
- Illumina, Inc.
Autoimmune Hepatitis
Effect of JKB-122 on Prednisolone and Azathioprine Induced Remission in Autoimmune Hepatitis (AIH)
This is a Phase 2 study. All patients will receive prednisolone and AZA as standard of care (SOC) during the study. At the end of the study, all data collected will be analyzed the efficacy and safety of JKB-122 on SOC reduction…
- Trial name
- NCT04371718
- Testing
- JKB-122
- Volunteers
- 120 people
- Sponsor
- TaiwanJ Pharmaceuticals Co., Ltd