Clinical trials: Genetic Conditions
Presbyacusis
Development of a Battery of Audiological Tests for the Precision Diagnosis of Age-related Hearing Loss
Age-related hearing loss, or presbycusis, is caused by many genetic and environmental factors. Its prevalence poses a public health challenge of early identification and effective hearing aid treatment.
- Trial name
- AUDIOGENAGE (NCT05312983)
- Testing
- Audiological and vestibular tests, Blood sampling, neurocognitive self-questionnaire
- Where
- 2 sites in France
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- Institut Pasteur
Unverricht-Lundborg Disease
Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and Adults
The study will compare the efficacy and safety of Brivaracetam with placebo in patients with Unverricht- Lundborg Disease (ULD).
- Trial name
- NCT00368251
- Testing
- BRV 2.5 mg, BRV 25 mg, BRV 50 mg
- Where
- 18 sites in United States, Canada and 6 more
- Volunteers
- 56 people
- Sponsor
- UCB Pharma
Bardet-Biedl Syndrome (BBS), Obesity
An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS)
An open-label, single-arm, multicenter, Expanded Access Protocol [EAP] designed to provide treatment access to setmelanotide (3 mg, administered subcutaneously [SC], once daily) for eligible patients with BBS who have no…
- Trial name
- NCT05183802
- Testing
- Setmelanotide, administered subcutaneously [SC], once daily.
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Huntington's Disease, Chorea
Efficacy, Safety and Tolerability of AFQ056 in Patients With Huntington's Disease in Reducing Chorea
This study will assess the efficacy, safety and tolerability of AFQ056 when added to optimize standard therapy in patients that have Huntington's disease in reducing chorea.
- Trial name
- NCT01019473
- Testing
- AFQ056
- Where
- 10 sites in Germany, United Kingdom
- Volunteers
- 44 people
- Sponsor
- Novartis Pharmaceuticals
Alpha-1 Antitrypsin Deficiency
Phase II, Safety and Efficacy Study of Kamada-alpha-1-antitrypsin (AAT) for Inhalation"
To evaluate different doses of "Kamada-AAT for Inhalation" on the levels of alpha 1-proteinase inhibitor and other analytes in epithelial lining fluid (ELF) and serum and to assess the safety of the treatment in subjects with AAT…
- Trial name
- NCT02001688
- Testing
- Kamada-AAT for Inhalation, 80mg, Kamada-AAT for Inhalation, 160mg
- Where
- 2 sites in United States
- Volunteers
- 36 people
- Sponsor
- Kamada, Ltd.
Therapeutic Equivalency
A Bioequivalence Study Comparing Methylprednisolone Suspension to Methylprednisolone Tablets Under Fed Conditions
A study to determine whether a new formulation of methylprednisolone suspension is bioequivalent to methylprednisolone tablets under fed conditions.
- Trial name
- NCT01405170
- Testing
- methylprednisolone
- Volunteers
- healthy volunteers welcome
- Sponsor
- Pfizer
Bardet Biedl Syndrome (BBS), Alström Syndrome (AS)
Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity
This pivotal, phase 3 study is designed to confirm the efficacy and safety of setmelanotide, a potent melanocortin receptor type 4 (MC4R) agonist, for the treatment of obesity and hyperphagia in participants with Bardet Biedl…
- Trial name
- NCT03746522
- Testing
- Setmelanotide
- Where
- 12 sites in United States, Canada and 4 more
- Volunteers
- 52 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Mucopolysaccharidosis Type II, Metabolic Diseases
A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II
This is phase 2/3 study to evaluate the safety, pharmacokinetics, pharmacodynamics, and efficacy of the investigational product GNR-055 in MPS II (Hunter syndrome) patients of different age groups.
- Trial name
- NCT05208281
- Testing
- GNR-055 1.0-2.0-3.0 mg/kg, GNR-055 2.0 mg/kg, GNR-055 3.0 mg/kg
- Where
- 5 sites in Russia
- Volunteers
- 32 people
- Sponsor
- AO GENERIUM
Retinitis Pigmentosa (RP), Usher Syndrome
Observational Study to Investigate the Short-term Effects of Transcorneal Electrical Stimulation on Visual Performance
Retinitis pigmentosa and similar degenerative diseases of the retina lead to progressive loss of vision. TES therapy with the CE-marked OkuStim® System is a treatment approved in the EU for slowing the progression of the disease.
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome, Cone Rod Dystrophy
- Trial name
- TES-STEP (NCT07548944)
- Testing
- Transcorneal Electrical Stimulation using the OkuStim System
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- Okuvision GmbH
Gout and Hyperuricemia
Phase II Dose Finding Study of RDEA3170 Versus Placebo in Japanese Patients With Gout or Asymptomatic Hyperuricemia
This study is to examine the hypothesis that administration of RDEA3170 to Japanese patients with gout or asymptomatic hyperuricemia in doses of 5 mg, 7.5 mg, 10 mg, 12.5 mg and 15 mg once daily, respectively will result in…
- Trial name
- NCT02078219
- Testing
- RDEA3170, Allopurinol
- Where
- 14 sites in Japan
- Volunteers
- 204 people
- Sponsor
- AstraZeneca
Fed
Bioequivalence Study of Metoprolol Succinate Extended Release Tablets 200 mg Under Fed Conditions
This is an open Label, randomized, two-period, two-treatment, two-sequence, crossover, balanced, single dose pivotal study. The purpose of this study is to assess the bioequivalence between Test Product and the corresponding…
- Trial name
- NCT01884909
- Testing
- Metoprolol Succinate ER Tablet 200 mg, 'TOPROL-XL®' ER Tablets 200 mg
- Where
- India
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- IPCA Laboratories Ltd.
Familial Adenomatous Polyposis
A Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP)
The purpose of this phase III study is to evaluate the safety and efficacy of the combination of eflornithine and sulindac compared to single agent sulindac or eflornithine in reducing the number of polyps in patients with…
- Trial name
- NCT01245816
- Testing
- Eflornithine plus Sulindac
- Sponsor
- Cancer Prevention Pharmaceuticals, Inc.
Infertility
Preimplantation Genetic Diagnosis for the Indication of Advanced Reproductive Age
The objective of this study is to demonstrate that Preimplantation Genetic diagnosis will significantly reduce spontaneous abortions and increase ongoing pregnancy rates in patients of advanced maternal age (37-42) undergoing…
- Trial name
- NCT00646893
- Testing
- Preimplantation Genetic Diagnosis (PGD)
- Where
- 5 sites in United States, Spain
- Volunteers
- 1,200 people
- Sponsor
- Reprogenetics
Spinocerebellar Ataxias, Spinocerebellar Ataxia Type 1
Study of CAD-1883 for Spinocerebellar Ataxia
This is a randomized, double-blind, placebo-controlled Phase 2 study evaluating oral administration of CAD-1883 in the treatment of adults with a genotypic diagnosis of Spinocerebellar Ataxia (SCA).
- Conditions
- Spinocerebellar Ataxias, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3
- Trial name
- Synchrony-1 (NCT04301284)
- Testing
- CAD-1883
- Where
- 6 sites in United States
- Sponsor
- Cadent Therapeutics
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Acute Gouty Arthritis
Canakinumab in the Treatment of Gouty Arthritis Flare(s) and Prevention of New Flares in Patients With Chronic Kidney Disease
The purpose of this study is to confirm the efficacy and safety results obtained in a chronic kidney disease (CKD) subgroup of patients participating in Phase III studies in a larger, independent patient population with difficult…
- Trial name
- NCT01593527
- Testing
- ACZ885, Triamcinelone acetonide
- Sponsor
- Novartis Pharmaceuticals
Lennox-Gastaut Syndrome
Safety and Effectiveness of Open-Label Clobazam in Subjects With Lennox-Gastaut Syndrome
The objective of this study is to evaluate the long-term safety and effectiveness of open-label clobazam in the treatment of drop seizures in subjects with LGS.
- Trial name
- LGS (NCT01160770)
- Testing
- Clobazam
- Volunteers
- 267 people
- Sponsor
- Lundbeck LLC
Movement Disorders, Essential Tremor
ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders
The proposed study is to evaluate the effectiveness of ExAblate Transcranial MRgFUS as a tool for creating a unilateral lesion in the Vim thalamus or the globus pallidus (GPi) in patients with treatment-refractory symptoms of…
- Conditions
- Movement Disorders, Essential Tremor, Holmes Tremor, Parkinson's Disease
- Trial name
- NCT02252380
- Testing
- Transcranial ExAblate System
- Where
- 2 sites in Canada
- Volunteers
- 10 people
- Sponsor
- InSightec
Dilated Cardiomyopathy (DCM), Ischemic Cardiomyopathy
Dilated cardiomYopathy iNtervention With Allogeneic MyocardIally-regenerative Cells (DYNAMIC)
To determine the safety profile of CAP-1002 administered by multi-vessel intracoronary infusion in subjects with DCM. The study will further explore safety and exploratory efficacy endpoints of CAP-1002.
- Conditions
- Dilated Cardiomyopathy (DCM), Ischemic Cardiomyopathy, Nonischemic Cardiomyopathy, Heart Failure
- Trial name
- DYNAMIC (NCT02293603)
- Testing
- Allogeneic Cardiosphere-Derived Cells (CDCs)
- Where
- United States
- Volunteers
- 42 people
- Sponsor
- Capricor Inc.
Coronary Artery Disease, Chest Pain
Coronary Obstruction Detection by Molecular Personalized Gene Expression (Corus CAD or ASGES)
To validate the use of Corus CAD (Age/Sex/Gene Expression score - ASGES) blood assay in subjects who are referred for the work-up of coronary artery disease.
- Conditions
- Coronary Artery Disease, Chest Pain, Cardiovascular Diseases, Coronary Heart Disease
- Trial name
- COMPASS (NCT01117506)
- Testing
- Corus CAD (ASGES)
- Where
- 7 sites in United States
- Volunteers
- 581 people
- Sponsor
- CardioDx