Clinical trials: Genetic Association Studies
Retinitis Pigmentosa, Choroideremia
Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
The Vision Research and Assessment Institute (VRAI) was established with the purpose of serving as a testing facility for efficacy endpoints for patients with Low Vision.
- Conditions
- Retinitis Pigmentosa, Choroideremia, Stargardt Macular Dystrophy, Stargardt Disease
- Trial name
- NCT06375239
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- Ray Therapeutics, Inc.
Exocrine Pancreatic Insufficiency, Cystic Fibrosis
RESULT: Reliable, Emergent Solution Using Liprotamase Treatment
Liprotamase powder is a non-porcine, soluble and stable mixture of biotechnology-derived lipase, protease, and amylase digestive enzymes.
- Trial name
- NCT03051490
- Testing
- Liprotamase, porcine PERT
- Where
- 50 sites in United States, Hungary and 5 more
- Volunteers
- 140 people
- Sponsor
- Anthera Pharmaceuticals
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
HELIOS-B: A Study to Evaluate Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy
This study will evaluate the efficacy and safety of vutrisiran 25 mg administered subcutaneously (SC) once every 3 months (q3M) compared to placebo in participants with ATTR amyloidosis with cardiomyopathy.
- Trial name
- NCT04153149
- Testing
- Vutrisiran, Sterile Normal Saline (0.9% NaCl)
- Where
- 121 sites in United States, Argentina and 31 more
- Volunteers
- 655 people
- Sponsor
- Alnylam Pharmaceuticals
Cytomegalovirus Retinitis, HIV Infections
A Study of Foscarnet in the Treatment of Cytomegalovirus (CMV) of the Eyes in Patients With AIDS Who Have Not Had Success With Ganciclovir
To evaluate the safety and efficacy of foscarnet induction treatment of cytomegalovirus (CMV) retinitis in AIDS patients who have previously suffered severe dose-limiting ganciclovir-related myelosuppression, who are ineligible…
- Trial name
- NCT00002301
- Testing
- Foscarnet sodium
- Where
- United States
- Sponsor
- Astra USA
Neurofibromatosis 1, Plexiform Neurofibroma
FCN-159 in Adult Patients With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas
A study to evaluate the efficacy of FCN-159 in adult patients with symptomatic, inoperable neurofibromatosis type 1-related plexiform neurofibromas.
- Conditions
- Neurofibromatosis 1, Plexiform Neurofibroma, NF1
- Trial name
- NCT05913037
- Testing
- Test group (Group A): FCN-159 8 mg, orally, once daily;
- Where
- 15 sites in China
- Volunteers
- 167 people
- Sponsor
- Shanghai Fosun Pharmaceutical Industrial Development Co. Ltd.
Lymphoma, Non-Hodgkin, HIV Infections
Gene Therapy in HIV-Positive Patients With Non-Hodgkin's Lymphoma
The purpose of this study is to see if it is safe and effective to use gene therapy to treat non-Hodgkin's lymphoma (NHL) in HIV-positive patients. Stem cell transplantation is a procedure used to treat NHL.
- Trial name
- NCT00002221
- Testing
- Peripheral blood stem cells
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Ribozyome
Neurofibromatosis Type 1
Pharmacokinetics, Safety and Efficacy of the Selumetinib Granule Formulation in Children Aged ≥1 to <7 Years With NF1-related Symptomatic, Inoperable PN
This study is designed to define a dosing regimen and assess the pharmacokinetics(PK) and safety of the granule formulation; the study will also include descriptive analyses of exploratory efficacy endpoints.
- Trial name
- SPRINKLE (NCT05309668)
- Testing
- Selumetinib granule formulation, Selumetinib capsule formulation
- Where
- 16 sites in United States, Germany and 5 more
- Volunteers
- 36 people
- Sponsor
- AstraZeneca
Entrapment Neuropathy
Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device
A proof of concept study to evaluate the feasibility of safe and effective treatment through optimization of the Cryo-Touch III Device for temporary relief of pain.
- Trial name
- NCT01753778
- Testing
- Cryo-Touch III Device
- Where
- 2 sites in United States
- Volunteers
- 7 people
- Sponsor
- Pacira Pharmaceuticals, Inc
Pregnancy Related, Atopic Dermatitis
An Observational Retrospective Cohort Study Being Conducted in Women With Atopic Dermatitis Exposed to Ruxolitinib Cream Versus Topical Corticosteroids During Pregnancy: A US Claims Database Analysis
This study is to assess infant outcomes of women with AD who were exposed to ruxolitinib cream during pregnancy compared with a control cohort of women with AD who were exposed to a topical corticosteroid (TCS) during pregnancy.
- Trial name
- NCT06627335
- Testing
- Ruxolitinib Cream, TCS
- Where
- United States
- Volunteers
- 5,621 people
- Sponsor
- Incyte Corporation
Obesity, Over-weight
An Efficacy, Safety, and Pharmacokinetics Study of Beloranib in Obese Subjects With Prader-Willi Syndrome
The purpose of this study is to evaluate the efficacy, safety, and pharmacokinetics for certain doses of beloranib in obese subjects with Prader-Willi Syndrome.
- Conditions
- Obesity, Over-weight, Prader-Willi Syndrome
- Trial name
- NCT01818921
- Testing
- ZGN-440 sterile diluent, 1.2 mg ZGN-440 for injectable suspension, 1.8 mg ZGN-440 for injectable suspension
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Zafgen, Inc.
Hemophilia A
Patient-reported Outcomes in Subjects Treated With ReFacto AF Routine Prophylaxis
This NIS aims to assess the patient-reported outcomes (PROs) in enrolled subjects
- Trial name
- NCT02718677
- Testing
- Refacto AF
- Sponsor
- Pfizer
Retinal Disease, Macular Degeneration
Stem Cell Ophthalmology Treatment Study
This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease. http://mdstemcells.com/scots-ii/
- Conditions
- Retinal Disease, Macular Degeneration, Hereditary Retinal Dystrophy, Optic Nerve Disease
- Trial name
- SCOTS (NCT01920867)
- Testing
- RB (Retrobulbar), ST (Subtenon), IV (Intravenous)
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- MD Stem Cells
Cystic Fibrosis, Exocrine Pancreatic Insufficiency
Open-Label Phase III Long-Term Safety Trial of Liprotamase
This is an open-label, single-arm clinical study investigating the long-term safety of ALTU-135 treatment in patients with cystic fibrosis (CF)-related exocrine pancreatic insufficiency (PI).
- Trial name
- DIGEST (NCT00449904)
- Testing
- Liprotamase
- Where
- 39 sites in United States
- Volunteers
- 214 people
- Sponsor
- Anthera Pharmaceuticals
Breast Cancer
Bioequivalence ANDA SNP Clinical Study - Raloxifene and Single Nucleotide Polymorphisms
Explore the relationship between drug target ER gene single nucleotide polymorphisms and Raloxifene therapeutic effects in patients with Breast Cancer LCIS, based on Oxford precisely sequencing drug targets' genes.
- Trial name
- Drugs-SNPs (NCT06062810)
- Testing
- Raloxifene - Usual, Raloxifene - Study
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Han Xu, M.D., Ph.D., FAPCR, Sponsor-Investigator, IRB Chair
Hurler Syndrome, Inherited Metabolic Disorder
BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study
Providing access of BPX-501 gene modified T cells and rimiducid to pediatric patients who do not meet the eligibility criteria of the BP-U-004 study.
- Conditions
- Hurler Syndrome, Inherited Metabolic Disorder, Lysosomal Storage Disorder, Metachromatic Leukodystrophy
- Trial name
- NCT03639844
- Testing
- rivogenlecleucel, rimiducid
- Where
- 2 sites in United States
- Sponsor
- Bellicum Pharmaceuticals
Limb Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy Type 2
A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
The purpose of this study is to evaluate the safety and tolerability of a single intravenous infusion of AB-1003 in adults diagnosed with limb girdle muscular dystrophy type 2I/R9 (LGMD2I/R9).
- Conditions
- Limb Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy Type 2, LGMD2I, Muscular Dystrophy
- Trial name
- NCT05230459
- Testing
- AB-1003 dose level 1, AB-1003 dose level 2
- Where
- 6 sites in United States
- Volunteers
- 9 people
- Sponsor
- AskBio Inc
Dengue Fever, Dengue Haemorrhagic Fever
Association of Host Genetics With Vaccine Efficacy and Study of Immune Correlates of Risk From a Tetravalent Dengue Vaccine
Primary objectives: To assess how dengue vaccine efficacy varies across participant subgroups regarding polymorphism in human leukocyte antigen (HLA) alleles of interest.
- Trial name
- NCT02827162
- Where
- Thailand
- Volunteers
- 334 people, healthy volunteers welcome
- Sponsor
- Sanofi Pasteur, a Sanofi Company
Amyloidosis, Amyloid Cardiomyopathy
Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
Phase 3 efficacy and safety study to evaluate acoramidis (AG10) HCl 800 mg administered orally twice a day compared to placebo in subjects with symptomatic Transthyretin Amyloid Cardiomyopathy (ATTR-CM).
- Conditions
- Amyloidosis, Amyloid Cardiomyopathy, Transthyretin Amyloidosis, Cardiomyopathies
- Trial name
- ATTRibute-CM (NCT03860935)
- Testing
- acoramidis
- Where
- 104 sites in United States, Australia and 16 more
- Volunteers
- 632 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Hemophilia A
A Prospective Study to Collect High-Quality Documentation of Bleeds, Health-Related Quality of Life (HRQoL), and Safety Outcomes in Patients With Hemophilia A Treated With Standard-of-Care Treatment
This non-interventional study will prospectively collect detailed, high-quality documentation of bleeds, HRQoL, and safety in patients with hemophilia A with or without FVIII inhibitors treated according to local routine clinical…
- Trial name
- NCT02476942
- Testing
- Bypassing Agents, FVIII Replacement
- Where
- 35 sites in United States, Australia and 10 more
- Volunteers
- 221 people
- Sponsor
- Hoffmann-La Roche
Neurofibromatosis Type 1 (NF1)-Related Plexiform Neurofibromas (PNs), Healthy Participants
A Study to Evaluate Bioavailability and Food Effect of Selumetinib (AZD6244) in Healthy Male Participants
This study will evaluate bioavailability and food effect of selumetinib (AZD6244) in healthy male participants. A total of 24 healthy male participants will be included to ensure at least 20 evaluable participants.
- Trial name
- NCT03649165
- Testing
- Treatment A, Treatment B, Treatment C
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- AstraZeneca