Clinical trials: Genetic Diseases
Cystic Fibrosis
A Study in Adult and Pediatric Patients With Cystic Fibrosis
The purpose of this ascending dose group study is to assess the safety, tolerability, and effects of multiple dose levels of INS37217 and placebo followed by five days twice daily treatment with maximum tolerated dose…
- Trial name
- NCT00034515
- Testing
- denufosol tetrasodium (INS37217) Inhalation Solution
- Volunteers
- 63 people
- Sponsor
- Merck Sharp & Dohme LLC
Severe Hemophilia A, Moderate Hemophilia A
A Study to Evaluate Overall Health, Physical Activity, and Joint Outcomes in Participants With Severe or Moderate Hemophilia A Without Factor VIII Inhibitors on Emicizumab Prophylaxis
Study MO42623 is a Phase IV, multicenter, open-label, three cohort study designed to evaluate the impact of emicizumab prophylaxis on overall health, physical activity, and joint outcomes in participants aged ≥13 and <70 years…
- Trial name
- Beyond ABR (NCT05181618)
- Testing
- Emicizumab
- Where
- 26 sites in United States, Brazil and 10 more
- Volunteers
- 136 people
- Sponsor
- Hoffmann-La Roche
Prader-Willi Syndrome
An Open-Label Study of DCCR Tablet in Patients With PWS
The primary objective of this study is to monitor the long-term safety of DCCR in PWS patients.
- Trial name
- NCT04086810
- Testing
- DCCR
- Sponsor
- Soleno Therapeutics, Inc.
Atopic Dermatitis
A Study to Evaluate Safety of Upadacitinib in Combination With Topical Corticosteroids in Adolescent and Adult Participants With Moderate to Severe Atopic Dermatitis
The objective of this study is to assess the safety of upadacitinib combined with topical corticosteroids (TCS) in adolescent and adult participants in Japan with moderate to severe atopic dermatitis (AD) who are candidates for…
- Trial name
- Rising Up (NCT03661138)
- Testing
- Upadacitinib, Topical Corticosteroids (TCS)
- Where
- 43 sites in Japan
- Volunteers
- 272 people
- Sponsor
- AbbVie
Huntington Disease
Safety Evaluation of Cellavita HD Administered Intravenously in Participants With Huntington's Disease
Cellavita HD is a stem-cell therapy for Huntington's Disease. This is a first-in-human, non-randomized, phase I study in which participants with Huntington's Disease will receive three intravenous injections and will be followed…
- Trial name
- SAVE-DH (NCT02728115)
- Testing
- Cellavita HD Lower Dose, Cellavita HD Higher dose
- Where
- Brazil
- Volunteers
- 6 people
- Sponsor
- Azidus Brasil
Phenylketonuria (PKU)
A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults
The 165-901 study is designed to identify the appropriate tools for use in future interventional studies on the neurocognitive effects of pegvaliase on adults with PKU.
- Trial name
- 165-901 (NCT03505125)
- Where
- 14 sites in United States, Canada and 5 more
- Volunteers
- 63 people
- Sponsor
- BioMarin Pharmaceutical
Leber's Hereditary Optic Neuropathy
Expanded Access Program for Idebenone in Patients With Leber's Hereditary Optic Neuropathy Who Completed the LEROS Study
Expanded Access Program for Idebenone in Patients with Leber's Hereditary Optic Neuropathy who completed the LEROS Study
- Trial name
- US EAP LHON (NCT04381091)
- Testing
- Idebenone 150 MG Oral Tablet
- Sponsor
- Santhera Pharmaceuticals
Alpha 1-Antitrypsin Deficiency
Study of DCR-A1AT in Healthy Adult Volunteers
This is a research study to test an experimental study drug (belcesiran, also known as DCR-A1AT). This drug is being tested to see if it helps people with a rare condition known as Alpha-1 Antitrypsin Deficiency, or A1ATD.
- Trial name
- NCT04174118
- Testing
- belcesiran
- Where
- 2 sites in New Zealand, Sweden
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Dry Age-related Macular Degeneration, Geographic Atrophy
A Multiple Dose Study of Repeat Intravitreal Injections of GEM103 in Dry Age-related Macular Degeneration
This study is designed to investigate the safety, PK/PD, biomarker and early clinical effects of repeat GEM103 IVT injections.
- Conditions
- Dry Age-related Macular Degeneration, Geographic Atrophy, Macular Degeneration, Retinal Disease
- Trial name
- NCT04643886
- Testing
- GEM103
- Where
- 29 sites in United States
- Volunteers
- 62 people
- Sponsor
- Gemini Therapeutics, Inc.
Gaucher Disease, Type 3
High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)
Type: Prospective, open-label, single center study Duration: 6 months with an optional 12-month extension phase Participants: 12 pediatric patients diagnosed with type III Gaucher disease (GD3) aged ≥3 to ≤18 years old treatment…
- Trial name
- NCT07285369
- Testing
- Ambroxol
- Where
- Pakistan
- Volunteers
- 12 people
- Sponsor
- Agyany Pharma LTD
Thyroid Eye Disease
Twenty-four Hour Intraocular Pressure Patterns in Patients With Uncontrolled Thyroid Eye Disease
Patients with Thyroid Eye Disease (TED) often have enlarged extraocular muscles and higher orbital fat contents due to their disease process.
- Trial name
- NCT01798966
- Testing
- SENSIMED Triggerfish
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Sensimed AG
Propionic Acidemia
A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 Study
The main purpose of this study is to evaluate the long-term safety of mRNA-3927 administered to participants with propionic acidemia (PA) who have previously participated in Study mRNA-3927-P101 (NCT04159103).
- Trial name
- NCT05130437
- Testing
- mRNA-3927
- Where
- 22 sites in United States, Canada and 6 more
- Volunteers
- 50 people
- Sponsor
- ModernaTX, Inc.
Cystic Fibrosis
A Study of Tobramycin Inhalation Powder From a Modified Manufacturing Process Versus Placebo
This study is designed to show how well tobramycin inhalation powder works and how safe it is when produced by a modified manufacturing process
- Trial name
- EDIT (NCT00918957)
- Testing
- Tobramycin Inhalation Powder
- Where
- 24 sites in Bulgaria, Egypt and 7 more
- Volunteers
- 62 people
- Sponsor
- Novartis Pharmaceuticals
Cellulite, Laxity; Skin
Durability and Safety of CCH With Two Different Injection Techniques in Cellulite With Laxity
All participants who completed the EN3835-224 study will be invited to participate in this observational study to evaluate long term durability of response and safety.
- Conditions
- Cellulite, Laxity; Skin, Edematous Fibrosclerotic Panniculopathy
- Trial name
- NCT05249257
- Where
- 3 sites in United States
- Volunteers
- 20 people
- Sponsor
- Endo USA Inc., a Keenova Therapeutics Company
Age-Related Macular Degeneration
Ocular, Vascular, and Genetic Findings in AMD Patients
Observation of findings associated with AMD
- Trial name
- NCT06015633
- Testing
- No intervention
- Where
- Israel
- Volunteers
- 50 people
- Sponsor
- OcuDyne, Inc.
Primary Immunodeficiency Disease
IVIG Boya: Safety, Efficacy, and Pharmacokinetics
The goal of this phase 3, open-label, single-group clinical trial is to assess the efficacy of Boya IVIG in maintaining the mean number of serious bacterial infections to less than one per year in participants with primary…
- Trial name
- BoyaIVIG (NCT06150833)
- Testing
- Boya IVIG
- Volunteers
- 50 people
- Sponsor
- Azidus Brasil
Analgesia
A Study Investigating the Pharmacokinetic Profiles of Four Extended Release Paracetamol Formulations
A study investigating the pharmacokinetic profiles of four extended release paracetamol formulations
- Trial name
- NCT01568749
- Testing
- Paracetamol, Paracetamol formulation 1, Paracetamol Formulation 2
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Spinocerebellar Degeneration
Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
To evaluate the efficacy, safety and pharmacokinetics profile of KPS-0373 in patients with SCD
- Trial name
- NCT00863538
- Testing
- KPS-0373
- Where
- 3 sites in Japan
- Volunteers
- 40 people
- Sponsor
- Kissei Pharmaceutical Co., Ltd.
Breast Cancer Risk
Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer
This study aims to assess how a polygenic risk score (PRS) reported with the results of multi-gene panel testing affects the breast cancer risk management recommendations healthcare providers make to their patients.
- Trial name
- NCT03688204
- Where
- 3 sites in United States
- Volunteers
- 118 people
- Sponsor
- Ambry Genetics
Amyotrophic Lateral Sclerosis, Motor Neuron Disease
Study of Electrical Impedance Myography (EIM) in ALS
This trial is studying Electrical Impedance Myography (EIM) for measuring muscle health. The trial is studying people with Amyotrophic Lateral Sclerosis (ALS), other neuromuscular diseases, and healthy volunteers to see if the…
- Conditions
- Amyotrophic Lateral Sclerosis, Motor Neuron Disease, Charcot-Marie-Tooth Disease, Multiple Sclerosis
- Trial name
- NCT02011204
- Testing
- Electrical impedance myography (EIM)
- Where
- 6 sites in United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- Skulpt, Inc.
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