Clinical trials: Rare Disease
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
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.
Cystinosis
Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)
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 immediate release) which must be taken every…
- Trial name
- NCT01197378
- Testing
- Cysteamine Bitartrate Delayed-release Capsules
- Where
- 10 sites in United States, France and 1 more
- Volunteers
- 60 people
- Sponsor
- Amgen
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
Pemphigus Vulgaris
Efficacy and Safety of Ofatumumab in Treatment of Pemphigus Vulgaris
Pemphigus vulgaris (PV) is a rare, chronic, debilitating, and potentially life-threatening autoimmune disorder that is characterized by mucocutaneous blisters.
- Trial name
- NCT01920477
- Testing
- Ofatumumab
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 35 people
- Sponsor
- Novartis Pharmaceuticals
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