Clinical trials: Genetic Conditions
Chronic Kidney Diseases, Alport Syndrome
An Extended Access Program for Bardoxolone Methyl in Patients With CKD (EAGLE)
This extended access study will assess the long-term safety and tolerability of bardoxolone methyl in qualified patients with chronic kidney disease (CKD) who previously participated in one of the qualifying clinical studies with…
- Conditions
- Chronic Kidney Diseases, Alport Syndrome, Autosomal Dominant Polycystic Kidney
- Trial name
- EAGLE (NCT03749447)
- Testing
- Bardoxolone methyl
- Where
- 87 sites in United States, Australia and 4 more
- Volunteers
- 270 people
- Sponsor
- Biogen
Healthy, Chronic Rhinosinusitis With Nasal Polyps
Study Of PF-06817024 In Healthy Subjects, In Patients With Chronic Rhinosinusitis With Nasal Polyps And in Patients With Atopic Dermatitis
The purpose of this study is to evaluate safety, tolerability, pharmacokinetics, and pharmacodynamics of PF-06817024 in healthy volunteers, in participants with chronic rhinosinusitis, with nasal polyps and in participants with…
- Conditions
- Healthy, Chronic Rhinosinusitis With Nasal Polyps, Atopic Dermatitis
- Trial name
- NCT02743871
- Testing
- PF-06817024
- Where
- 20 sites in United States
- Volunteers
- 97 people, healthy volunteers welcome
- Sponsor
- Pfizer
Fabry Disease
Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients
The objective of CLI-06657AA1-03 (formerly PB-102-F51) is to evaluate the long-term safety, tolerability, and efficacy of 2 mg/kg pegunigalsidase alfa administered intravenously every four weeks in adult Fabry patients who have…
- Trial name
- NCT03614234
- Testing
- pegunigalsidase alfa
- Where
- 14 sites in United States, Belgium and 5 more
- Volunteers
- 29 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Atopic Dermatitis
Trial to Determine the Therapeutic Benefit of an OTC Cream on Dry, Itchy Skin of Adults and Children With Eczema
The objective of this 1 week trial is to evaluate the efficacy of an over-the-counter (OTC) 1% colloidal oatmeal skin protectant cream in adults and children with mild to moderate AD.
- Trial name
- NCT02691507
- Testing
- EpiCeram Skin Barrier Emulsion, Experimental Product 1% Colloidal Oatmeal Balm
- Where
- 2 sites in United States
- Volunteers
- 53 people, healthy volunteers welcome
- Sponsor
- Johnson & Johnson Consumer Inc. (J&JCI)
Alpha 1-Antitrypsin Deficiency
Safety, Tolerability and Pharmacodynamic Effect of Fazirsiran (TAK-999, ARO-AAT)
The purpose of AROAAT2001 (SEQUOIA) is to evaluate the safety, efficacy and tolerability of multiple doses of the investigational product, Fazirsiran Injection, administered subcutaneously to participants with alpha-1 antitrypsin…
- Trial name
- SEQUOIA (NCT03945292)
- Testing
- Fazisiran Injection
- Where
- 21 sites in United States, Germany and 4 more
- Volunteers
- 40 people
- Sponsor
- Arrowhead Pharmaceuticals
Chronic Granulomatous Disease, Granulomatous Disease, Chronic
A Study of the Safety and Efficacy of Prime Editing (PM359) in Participants With p47phox Autosomal Recessive Chronic Granulomatous Disease (CGD )
This is an open-label, single-arm, multicenter Phase 1/2 study evaluating the safety and efficacy of gene therapy by transplantation of Prime Edited autologous CD34+ stem cells modified ex vivo (PM359) in participants with…
- Trial name
- NCT06559176
- Testing
- PM359
- Where
- 5 sites in United States, Canada and 1 more
- Volunteers
- 12 people
- Sponsor
- Prime Medicine, Inc.
Chorea
First Time Use of SD-809 in Huntington Disease
The purpose of this study is to determine whether SD-809 tablets are effective in the treatment of chorea associated with Huntington's Disease.
- Trial name
- First-HD (NCT01795859)
- Testing
- SD-809
- Where
- 43 sites in United States, Australia and 1 more
- Volunteers
- 90 people
- Sponsor
- Teva Branded Pharmaceutical Products R&D, Inc.
Leptin Receptor Deficiency Obesity
Setmelanotide for the Treatment of Leptin Receptor (LEPR) Deficiency Obesity
To demonstrate statistically significant and clinically meaningful effects of setmelanotide on percent body weight change in participants with LEPR deficiency obesity due to rare bi-allelic or loss-of function mutations at the…
- Trial name
- NCT03287960
- Testing
- Setmelanotide
- Where
- 6 sites in Canada, France and 4 more
- Volunteers
- 15 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Autosomal Dominant Retinitis Pigmentosa, Eye Diseases
A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses.
- Conditions
- Autosomal Dominant Retinitis Pigmentosa, Eye Diseases, Eye Diseases, Hereditary, Retinal Dystrophies
- Trial name
- AURORA (NCT04123626)
- Testing
- QR-1123
- Where
- 5 sites in United States
- Volunteers
- 11 people
- Sponsor
- ProQR Therapeutics
Retinitis Pigmentosa, Usher Syndrome Type 2
Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)
The purpose of this study is to evaluate the efficacy safety and tolerability of QR-421a administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene with…
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- NCT05176717
- Testing
- QR-421a
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 5 people
- Sponsor
- Laboratoires Thea
Gout, Hyperuricemia
A Randomized, Double-Blind, Dose-Response Study of the Safety and Uric Acid Effects of Oral Ulodesine Added to Allopurinol in Subjects With Gout and Concomitant Moderate Renal Insufficiency
To evaluate the overall safety and tolerability of ulodesine when combined with allopurinol in subjects with moderate renal insufficiency.
- Conditions
- Gout, Hyperuricemia, Arthritis, Joint Disease
- Trial name
- NCT01407874
- Testing
- Ulodesine (BCX4208) 5 mg, Ulodesine (BCX4208) 10 mg
- Where
- 10 sites in United States
- Volunteers
- 20 people
- Sponsor
- BioCryst Pharmaceuticals
Atopic Dermatitis
Prospective, Randomized, Double Blind Comparative Study on the Use of Two Creams in Xerosis Atopic Probands
Atopic dermatitis (AD), a chronic and relapsing inflammatory skin disease, is associated with elevated IgE levels and Th2 responses.
- Trial name
- NCT00509535
- Testing
- vitreoscilla filiformis cream
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- L'Oreal
Philadelphia Chromosome-Positive Chronic Myeloid Leukemia
A Study to Investigate Tolerability and Efficacy of Asciminib (Oral) Versus Nilotinib (Oral) in Adult Participants (≥18 Years of Age) With Newly Diagnosed Philadelphia Chromosome Positive Chronic Myelogenous Leukemia in Chronic Phase (Ph+ CML-CP)
The primary purpose of this study was to assess the tolerability of oral asciminib (80 mg QD) in comparison with that of the second generation (2G) Tyrosine Kinase Inhibitor (TKI) nilotinib (300 mg BID), in adult patients with…
- Trial name
- ASC4START (NCT05456191)
- Testing
- Asciminib, Nilotinib
- Where
- 119 sites in United States, Argentina and 22 more
- Volunteers
- 568 people
- Sponsor
- Novartis Pharmaceuticals
Chorea Associated With Huntington Disease
Alternatives for Reducing Chorea in Huntington Disease
The purpose of this study is to evaluate the safety, tolerability, and pharmacokinetics of SD-809 extended release (ER) in participants switching from tetrabenazine to SD-809 ER.
- Trial name
- ARC-HD (NCT01897896)
- Testing
- SD-809
- Where
- 38 sites in United States, Australia and 1 more
- Volunteers
- 119 people
- Sponsor
- Auspex Pharmaceuticals, Inc.
Gout, Arthritis, Gouty
Phase 3 Evaluation of Efficacy and Safety of AR882 in Gout Patients (AR882-301)
This study will assess the serum uric acid lowering effect and safety of AR882 in gout patients at two doses compared to placebo over 12 months
- Conditions
- Gout, Arthritis, Gouty, Hyperuricemia, Gout Chronic
- Trial name
- NCT06846515
- Testing
- AR882 50 mg, AR882 75 mg
- Where
- 83 sites in United States
- Volunteers
- 866 people
- Sponsor
- Arthrosi Therapeutics
Sickle Cell Anemia
Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease
OBJECTIVES: I. Assess the efficacy of poloxamer 188 in reducing the duration of painful vaso-occlusive crisis in patients with sickle cell disease. II.
- Trial name
- NCT00004408
- Testing
- poloxamer 188
- Volunteers
- 300 people
- Sponsor
- Mast Therapeutics, Inc.
MPS II, Hunter Syndrome (MPS II)
An Extension Study to Assess the Long-term Safety and Efficacy of Hunterase (Idursulfase Beta)
The objective of this study is to assess the long-term safety and efficacy of Hunterase for approximately 1 year in subjects who completed the end of study (EOS) visit (Visit 54) tests in the Phase 3 Hunterase study and patients…
- Conditions
- MPS II, Hunter Syndrome (MPS II), Hunter Syndrome, Hunterase
- Trial name
- NCT07344376
- Testing
- Hunterase
- Where
- South Korea
- Volunteers
- 30 people
- Sponsor
- GC Biopharma Corp
Hunter Syndrome
A Study of GC1111 in Hunter Syndrom Patients
The objective of this study is to evaluate the efficacy of GC1111 in Hunter Syndrome Patients
- Trial name
- NCT03920540
- Testing
- GC1111, Comparator
- Where
- South Korea
- Volunteers
- 32 people
- Sponsor
- Green Cross Corporation
Muscular Atrophy, Spinal
Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) (OFELIA)
This was a phase IV Open-label, single-arm, single-dose, multicenter study, to evaluate the safety, tolerability and efficacy of intravenous administration of OAV101 (AVXS-101) in patients with SMA with bi-allelic mutations in…
- Trial name
- OFELIA (NCT05073133)
- Testing
- OAV101
- Where
- 5 sites in Argentina, Brazil
- Volunteers
- 16 people
- Sponsor
- Novartis Pharmaceuticals
Dermatitis, Atopic
A Study of an Eczema Spot Treatment in Providing Eczema Symptoms Relief and Lasting Itch Relief to Affected Skin Area
The purpose of this study is to evaluate the efficacy (assessed by clinical evaluation of eczema/atopic lesion severity [atopic dermatitis severity index {ADSI} scoring] and perceived benefits in itch [visual analog score {VAS}…
- Trial name
- NCT05226143
- Testing
- Gel Cream
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Johnson & Johnson Consumer Inc. (J&JCI)