Clinical trials: Genetic Diseases
Glanzmann Thrombasthenia
A Phase 1/2 Study to Investigate Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of HMB-001 in Glanzmann Thrombasthenia
The goal of this clinical trial is to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of HMB-001 in Participants with Glanzmann Thrombasthenia.
- Trial name
- NCT06211634
- Testing
- HMB-001
- Where
- 17 sites in United States, Belgium and 4 more
- Volunteers
- 57 people
- Sponsor
- Hemab ApS
Dilated Cardiomyopathy (DCM)
A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy
This is a Phase 1, open-label, dose-escalation trial to characterize the safety, tolerability, and preliminary efficacy of RP-A701 following a single IV administration in high-risk adult patients with BAG3-DCM.
- Trial name
- NCT07137338
- Testing
- RP-A701 is a recombinant viral vector composed of an AAV serotype rh.74 (AAVrh.74) capsid encapsulating the transgene, BCL2-associated Athanogene 3 (BAG3)
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Von Willebrand Disease
Extension Study of Biostate in Subjects With Von Willebrand Disease
The aim of the Von Willebrand Disease (VWD) therapy is to treat and prevent bleeding episodes due to abnormal platelet adhesion and abnormal blood coagulation as a result of low or abnormal Von Willebrand Factor (VWF) and/or…
- Trial name
- NCT01224808
- Testing
- Biostate
- Where
- 6 sites in Bulgaria, Germany and 3 more
- Volunteers
- 20 people
- Sponsor
- CSL Behring
Achromatopsia
Clinical and Genetic Characterization of Individuals With Achromatopsia
The purpose of this study is to identify individuals with achromatopsia caused by mutations in the CNGB3 gene and characterize their clinical condition using several tests of visual function every 6 months for up to 1.5 years.
- Trial name
- NCT01846052
- Where
- 5 sites in United States
- Volunteers
- 56 people
- Sponsor
- Beacon Therapeutics
Hemophilia A
Study of Pharmacokinetics, Efficacy, and Safety of a Recombinant and Protein-Free Factor VIII (rAHF-PFM) in Pediatric Patients With Hemophilia A
The purpose of this study is to evaluate whether rAHF-PFM is effective and safe in the treatment of children with hemophilia A. The study consists of 2 parts.
- Trial name
- NCT00157040
- Testing
- Antihemophilic factor, recombinant, manufactured protein-free
- Where
- 12 sites in United States, Canada and 1 more
- Volunteers
- 50 people
- Sponsor
- Baxalta now part of Shire
Alpha-Mannosidosis
Evaluation of Long-term Efficacy of Treatment With Lamazym
The overall objective is to evaluate the long-term efficacy of Lamazym i.v. treatment in patients with alpha-Mannosidosis previously enrolled in Lamazym trials and currently receiving the treatment according to the AfterCare…
- Trial name
- rhLAMAN-10 (NCT02478840)
- Testing
- Lamazym
- Where
- Denmark
- Volunteers
- 18 people
- Sponsor
- Zymenex A/S
Hemophilia A
Evaluate Efficacy and Safety of Recombinant Factor VIII （rFVIII）Treatment of Severe or Moderately Severe Hemophilia A
Efficacy, Safety and Pharmacokinetics Study of a rFVIII in Chinese subjects with Hemophilia A.To assess efficacy and safety of rFVIII administered as treatment and as on-demand therapy in adult and adolescent (12-65 years)…
- Trial name
- NCT02930317
- Testing
- Recombinant Factor VIII (50 IU/kg), Recombinant Factor VIII (On-demand treatment)
- Where
- 4 sites in China
- Volunteers
- 60 people
- Sponsor
- Chia Tai Tianqing Pharmaceutical Group Co., Ltd.
Glioma, Malignant, Computer-Assisted
Radiomics-Based Visualization and Quantitative Validation of IDH1 Heterogeneity in Gliomas
The goal of this clinical trail is to non-invasively visualise and quantitatively validate an radiomics model of genetic heterogeneity in adult patients with diffuse glioma to help clinicians better guide surgical resection and…
- Trial name
- NCT05969691
- Testing
- Validation of IDH1 mutations from the radiomics model
- Where
- China
- Volunteers
- 18 people
- Sponsor
- Mingge LLC
Cystic Fibrosis
Study to Validate the Instructions for Use of TOBI® Podhaler™ in Cystic Fibrosis Patients
The purpose of this actual use human factors (HF) study is to validate the approved US TOBI Podhaler Instructions for Use (IFU), by establishing that the IFU effectively communicates the information necessary to achieve safe and…
- Trial name
- NCT02178540
- Testing
- Tobi Podhaler
- Where
- 13 sites in United States
- Volunteers
- 45 people
- Sponsor
- Novartis Pharmaceuticals
Hypochondroplasia
Interventional Study of Vosoritide for the Treatment of Children With Hypochondroplasia
The intent and design of this Phase 3 study is to assess vosoritide as a therapeutic option for the treatment of children with hypochondroplasia (HCH).
- Trial name
- CANOPY-HCH-3 (NCT06455059)
- Testing
- Vosoritide
- Where
- 23 sites in United States, Australia and 7 more
- Volunteers
- 80 people
- Sponsor
- BioMarin Pharmaceutical
Ovarian, Peritoneal, Fallopian Tube Cancer, BRCAm+ in Russia
OVArian Cancer Non-Interventional Study - OVATAR
This is a multicentre, non-interventional, prospective study to be carried out in representative hospitals in order to assess 1st line treatment management and diagnostic approaches applied to ovarian, peritoneal and fallopian…
- Trial name
- OVATAR (NCT02122588)
- Where
- 22 sites in Russia
- Volunteers
- 503 people
- Sponsor
- AstraZeneca
Acute Gouty Arthritis
A Study to Evaluate Efficacy and Safety of Anakinra in the Treatment of Acute Gouty Arthritis
The purpose of this study is to evaluate how anakinra relieves pain for patients with acute gout that cannot take non-steroidal anti-inflammatory drugs (NSAIDs) and colchicine.
- Trial name
- anaGO (NCT03002974)
- Testing
- Anakinra 100 mg, Triamcinolone Acetonide 40 mg
- Where
- 37 sites in United States
- Volunteers
- 165 people
- Sponsor
- Swedish Orphan Biovitrum
Hereditary Angioedema, HAE
STOP-HAE: A Phase 3 Study of ADX-324 in HAE
This study will evaluate the efficacy and safety of ADX-324 in participants with Type 1 or Type 2 hereditary angioedema. The study will also evaluate safety, pharmacokinetics (PK), pharmacodynamics (PD), and health-related…
- Conditions
- Hereditary Angioedema, HAE, Hereditary Angioedema - Type 1, Hereditary Angioedema - Type 2
- Trial name
- STOP-HAE (NCT06960213)
- Testing
- ADX-324
- Where
- 70 sites in United States, Argentina and 22 more
- Volunteers
- 90 people
- Sponsor
- ADARx Pharmaceuticals, Inc.
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
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
Low Bone Mass, Low Bone Mineral Density
Study to Compare the Efficacy and Safety of DenosumAb Versus Placebo in Males With Osteoporosis
The purpose of this study is to assess how effective and safe denosumab is in a population of males with low bone mass at risk of fracture.
- Conditions
- Low Bone Mass, Low Bone Mineral Density, Males With Osteoporosis, Osteopenia
- Trial name
- NCT00980174
- Testing
- 60 mg denosumab
- Volunteers
- 242 people
- Sponsor
- Amgen
Moderate-to-severe Atopic Dermatitis
A Study to Evaluate JYP0061 Tablets in Patients With Moderate-to-severe Atopic Dermatitis
The goal of this clinical trial is to evaluate the efficacy and safety of JYP0061 in adult patients with moderate-to-severe atopic dermatitis.
- Trial name
- NCT06158490
- Testing
- JYP0061 15 mg, JYP0061 30 mg
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Guangzhou JOYO Pharma Co., Ltd
Gout
D-0120 Safety and PK/PD, Food Effect Study in Healthy Volunteers
This initial clinical study in the US will be a randomized, double-blind, placebo-controlled, single-dose, dose-escalation, and sequential cohort study to evaluate the safety, tolerability, PK and PD of D-0120-NA in fasting…
- Trial name
- NCT03291782
- Testing
- D-0120
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- InventisBio Co., Ltd
Heterozygous Familial Hypercholesterolemia
Trial Assessing Efficacy, Safety and Tolerability of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibition in Paediatric Subjects With Genetic Low-Density Lipoprotein (LDL) Disorders
A study to assess safety and efficacy of evolocumab (AMG-145) in paediatric subjects aged 10-17 years diagnosed with heterozygous familial hypercholesterolemia.
- Trial name
- HAUSER-RCT (NCT02392559)
- Testing
- Evolocumab
- Where
- 66 sites in United States, Australia and 24 more
- Volunteers
- 158 people
- Sponsor
- Amgen
Becker Muscular Dystrophy
Open-Label Extension of EDG-5506 in Participants With Becker Muscular Dystrophy
EDG-5506-203 MESA is an open-label extension study to assess the long-term effect of sevasemten (EDG-5506) on safety, biomarkers, and functional measures in adults and adolescents with Becker muscular dystrophy
- Trial name
- MESA (NCT06066580)
- Testing
- Sevasemten
- Where
- 48 sites in United States, Australia and 10 more
- Volunteers
- 260 people
- Sponsor
- Edgewise Therapeutics, Inc.
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