Clinical trials: Genetic Association Studies
PIK3CA-Related Overgrowth Spectrum (PROS)
Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum Who Have Received Alpelisib
The study was a site-based retrospective non-interventional medical chart review of pediatric and adult male and female patients with PIK3CA-Related Overgrowth Spectrum (PROS) who initiated alpelisib at least 24 weeks before the…
- Trial name
- EPIK-P1 (NCT04285723)
- Testing
- alpelisib
- Where
- 7 sites in United States, Australia and 3 more
- Volunteers
- 57 people
- Sponsor
- Novartis Pharmaceuticals
Von Hippel-Lindau Disease, CNS Hemangioblastoma
Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584
The purpose of this study is to determine whether PTK787/ZK 222584 is effective in treating hemangioblastoma of the brain and/or retina in patients with von Hippel-Lindau disease.
- Conditions
- Von Hippel-Lindau Disease, CNS Hemangioblastoma, Retinal Hemangioblastoma
- Trial name
- NCT00052013
- Testing
- PTK787/ZK 222584
- Where
- 2 sites in United States
- Volunteers
- 11 people
- Sponsor
- Novartis Pharmaceuticals
Stargardt Disease, Stargardt Disease 1
Prescreening Study to Identify Potential Stargardt Participants for ACDN-01 Clinical Trials (STARPATH)
This is an observational prescreening study. Individuals who are eligible for prescreening will undergo testing procedures that may be used to determine eligibility in ACDN-01 clinical trials.
- Conditions
- Stargardt Disease, Stargardt Disease 1, Cone Rod Dystrophy, Juvenile Macular Degeneration
- Trial name
- NCT06445322
- Testing
- Prescreening Assessments
- Where
- 9 sites in United States
- Volunteers
- 50 people
- Sponsor
- Ascidian Therapeutics, Inc
Cytomegalovirus Infections, HIV Infections
A Multiple Dose Crossover Pharmacokinetics Study to Evaluate the Effects of Food on the Absorption of Oral Ganciclovir
This study is designed to determine the influence of food on the absorption and relative bioavailability of oral ganciclovir by comparing the absorption of oral ganciclovir in a fed and fasting state at steady state plasma levels.
- Trial name
- NCT00002251
- Testing
- Ganciclovir
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- Hoffmann-La Roche
Familial Mediterranean Fever
A Study to Describe a Group of Spanish Patients With FMF and to Identify Suboptimally Treated Patients With Minimal Disease Activity and Its Impact on Quality of Life
A retrospective, non-interventional, single-center study conducted in Spain, based on the collection of data from the medical histories of patients with Familial Mediterranean fever (FMF) diagnosed during childhood from January…
- Trial name
- NCT06923124
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Novartis Pharmaceuticals
Lysosomal Acid Lipase Deficiency
Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, study of sebelipase alfa in infants with rapidly progressive lysosomal acid lipase deficiency (LAL-D). Eligible participants received once-weekly infusions of sebelipase alfa for up to 3 years.
- Trial name
- NCT02193867
- Testing
- Sebelipase Alfa
- Where
- 5 sites in United States, Finland and 2 more
- Volunteers
- 10 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Sickle Cell Disease
Study to Assess Safety and Impact of SelG1 With or Without Hydroxyurea Therapy in Sickle Cell Disease Patients With Pain Crises
The purpose of this study was to determine whether the investigational drug SelG1 when given to sickle cell disease patients either taking or not taking hydroxyurea was effective in preventing or reducing the occurrence of pain…
- Trial name
- SUSTAIN (NCT01895361)
- Testing
- SelG1
- Where
- 56 sites in United States, Brazil and 1 more
- Volunteers
- 198 people
- Sponsor
- Reprixys Pharmaceutical Corporation
SCAR
An Exploratory Study of Genetic and Clinical Factors for Serious Skin Reactions Among Users of Eslicarbazepine Acetate
The reason for this study is to understand if people with certain genes are predisposed to develop severe skin reactions after they are administered Eslicarbazepine Acetate.
- Trial name
- NCT02520557
- Testing
- Blood or Saliva
- Where
- United States
- Volunteers
- 121 people
- Sponsor
- Sumitomo Pharma America, Inc.
Exocrine Pancreatic Insufficiency, Cystic Fibrosis
SIMPLICITY: Studying Impacts on Malabsorption With Liprotamase in Cystic Fibrosis
Liprotamase consists of 3 soluble, non-porcine digestive enzymes, lipase, protease, and amylase, combined in a fixed ratio. Liprotamase is stable in the stomach and can be formulated without enteric coating for administration…
- Trial name
- SIMPLICITY (NCT02734810)
- Testing
- Liprotamase Powder for Oral Solution
- Where
- 21 sites in United States
- Volunteers
- 15 people
- Sponsor
- Anthera Pharmaceuticals
Neurofibromatosis Type 1
Phase I Study to Assess the Effect of Food on the PK and Gastrointestinal Tolerability of Selumetinib in Adolescent Children With Neurofibromatosis Type 1 Related Plexiform Neurofibromas
This study in adolescent participants with NF1 who have inoperable PN is designed to evaluate the effect of a low fat meal on steady state selumetinib exposure; to assess the effect on GI tolerability when selumetinib is dosed…
- Trial name
- NCT05101148
- Testing
- Selumetinib
- Where
- 9 sites in United States, Poland and 2 more
- Volunteers
- 24 people
- Sponsor
- AstraZeneca
Neuromuscular Disease, Neuromuscular Diseases (NMD)
A Phase 3 Study of NTLA-2001 in ATTRv-PN
This study will be conducted to evaluate the efficacy and safety of a single dose of nexiguran ziclumeran (NTLA-2001) compared to placebo in participants with ATTRv-PN.
- Conditions
- Neuromuscular Disease, Neuromuscular Diseases (NMD), Neurodegenerative Disease, Neurodegenerative Disease, Hereditary
- Trial name
- NCT06672237
- Testing
- nexiguran ziclumeran
- Where
- 14 sites in Argentina, Brazil and 4 more
- Volunteers
- 60 people
- Sponsor
- Intellia Therapeutics
Pheochromocytoma/Paraganglioma, Pancreatic Neuroendocrine Tumor
Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015)
This is a study to evaluate the efficacy and safety of belzutifan monotherapy in participants with advanced pheochromocytoma/paraganglioma (PPGL), pancreatic neuroendocrine tumor (pNET), von Hippel-Lindau (VHL) disease-associated…
- Conditions
- Pheochromocytoma/Paraganglioma, Pancreatic Neuroendocrine Tumor, Von Hippel-Lindau Disease, Advanced Gastrointestinal Stromal Tumor
- Trial name
- NCT04924075
- Testing
- Belzutifan
- Where
- 84 sites in United States, Australia and 20 more
- Volunteers
- 355 people
- Sponsor
- Merck Sharp & Dohme LLC
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
MAGNITUDE: A Phase 3 Study of NTLA-2001 in Participants With Transthyretin Amyloidosis With Cardiomyopathy (ATTR-CM)
To evaluate the efficacy and safety of a single dose of NTLA-2001 compared to placebo in participants with ATTR-CM.
- Trial name
- NCT06128629
- Testing
- NTLA-2001
- Where
- 132 sites in United States, Argentina and 24 more
- Volunteers
- 1,200 people
- Sponsor
- Intellia Therapeutics
Amyloid Cardiomyopathy, Transthyretin-Related
Open-Label Safety Study of Acoramidis (AG10) in Symptomatic ATTR Participants
Open-Label Extension and Safety Monitoring Study of Acoramidis (AG10) in Participants with Symptomatic Transthyretin Amyloid Cardiomyopathy Who Completed the Phase 3 ATTRibute-CM Trial (AG10-301)
- Trial name
- AG10 (NCT04988386)
- Testing
- Acoramidis (AG10)
- Where
- 72 sites in United States, Australia and 15 more
- Volunteers
- 389 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies
Single Ascending Dose Study in Participants With LCA10
The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of EDIT-101 administered via subretinal injection in participants with LCA10 caused by a homozygous or compound…
- Conditions
- Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies, Eye Diseases, Hereditary, Retinal Disease
- Trial name
- NCT03872479
- Testing
- EDIT-101
- Where
- 5 sites in United States
- Volunteers
- 34 people
- Sponsor
- Editas Medicine, Inc.
Cancer, Pancreatic Cancer
9-ING-41 in Patients With Advanced Cancers
GSK-3β is a potentially important therapeutic target in human malignancies. The Actuate 1801 Phase 1/2 study is designed to evaluate the safety and efficacy of 9-ING-41, a potent GSK-3β inhibitor, as a single agent and in…
- Conditions
- Cancer, Pancreatic Cancer, Sarcoma, Renal Cancer
- Trial name
- NCT03678883
- Testing
- 9-ING-41, Gemcitabine - 21 day cycle, Doxorubicin.
- Where
- 66 sites in United States, Belgium and 5 more
- Volunteers
- 350 people
- Sponsor
- Actuate Therapeutics Inc.
Gout, Cardiovascular Diseases
Drug Use Study of Febuxostat After Recent Changes in the Prescribing Information
The prescribing information provides information on medicines. This study will check the number of patients starting febuxostat and the number of febuxostat users with cardiovascular disease after changes to the prescribing…
- Trial name
- NCT04853160
- Where
- United States
- Volunteers
- 24,046 people
- Sponsor
- Takeda
Stargardt Disease, Stargardt Macular Dystrophy
A Study to Learn How Stargardt-type Eye Conditions Progress in Children and Adults
Macular dystrophies are a group of inherited eye conditions that affect the macula. The macula is in the center of the retina, the light sensitive part at the back of the eye.
- Conditions
- Stargardt Disease, Stargardt Macular Dystrophy, Stargardt-like Macular Dystrophy
- Trial name
- EVOLVE (NCT07425574)
- Testing
- No Intervention
- Where
- 15 sites in United States
- Volunteers
- 90 people
- Sponsor
- Astellas Pharma Global Development, Inc.
Severe Hereditary Factor VIII Deficiency Disease Without Inhibitor, Moderate Hereditary Factor VIII Deficiency Disease Without Inhibitor
An Observational Study to Evaluate Physical Activity, Bleeding Incidence and Health Related Quality of Life, in Participants With Haemophilia A Without Inhibitors Receiving Standard of Care Treatment
This multicenter, non-interventional, prospective study will collect information about activity status, bleeds, health-related quality of life (HRQoL), health status, and safety in participants with moderate or severe haemophilia…
- Conditions
- Severe Hereditary Factor VIII Deficiency Disease Without Inhibitor, Moderate Hereditary Factor VIII Deficiency Disease Without Inhibitor, Haemophilia A
- Trial name
- POWER (NCT04165135)
- Testing
- Standard of Care for Haemophilia A
- Where
- 17 sites in Italy
- Volunteers
- 103 people
- Sponsor
- Hoffmann-La Roche
Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial
To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
The AG10-504 study is an open-label extension study of acoramidis in participants with newly diagnosed transthyretin amyloid cardiomyopathy (ATTR-CM) or both ATTR-CM and transthyretin amyloid polyneuropathy (ATTR-PN).
- Conditions
- Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial, Amyloid Cardiomyopathy, Amyloid Cardiomyopathy, Transthyretin-Related
- Trial name
- NCT07116473
- Testing
- Acoramidis (AG10)
- Volunteers
- 250 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company