Clinical trials: Genetic Diseases
Thyroid Eye Disease
A Study to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Satralizumab in Participants With Thyroid Eye Disease
The purpose of this study is to assess the efficacy, safety, pharmacokinetics, and pharmacodynamics of subcutaneous (SC) satralizumab, a recombinant, humanized anti-interleukin-6 (IL-6) receptor monoclonal antibody, in…
- Trial name
- SatraGO-2 (NCT06106828)
- Testing
- Satralizumab
- Where
- 41 sites in United States, Canada and 8 more
- Volunteers
- 127 people
- Sponsor
- Hoffmann-La Roche
Chronic Kidney Disease, Autosomal Dominant Polycystic Kidney Disease
Efficacy and Safety of Tolvaptan in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease
The purpose of the study is to determine whether tolvaptan is effective and safe for the treatment of late-stage chronic kidney disease due to autosomal dominant polycystic kidney disease (ADPKD)
- Trial name
- NCT02160145
- Testing
- Tolvaptan (OPC-41061)
- Where
- 230 sites in United States, Argentina and 20 more
- Volunteers
- 1,370 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Muscular Dystrophies
A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy
The purpose of this study is to determine whether GSK2402968 is effective in the treatment of ambulant boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping.
- Trial name
- DMD114044 (NCT01254019)
- Testing
- GSK2402968 6mg/kg/week
- Where
- 47 sites in Argentina, Belgium and 18 more
- Volunteers
- 186 people
- Sponsor
- GlaxoSmithKline
Phenylketonurias
AAV Gene Therapy Clinical Study in Adult Classic PKU (PHEdom)
This is a Phase 1/2, open-label, multiple-center, dose escalation and cohort expansion study to evaluate the safety and efficacy of NGGT002 in adult subjects with classic Phenylketonuria (PKU).
- Trial name
- NCT06332807
- Testing
- NGGT002
- Where
- 5 sites in United States
- Volunteers
- 12 people
- Sponsor
- NGGT INC.
Fabry Disease
Study to Evaluate the Safety, PK, PD, and Efficacy of PRX-102 in Japanese Patients With Fabry Disease
The aim of this study is to evaluate the safety and efficacy of pegunigalsidase alfa in Japanese patients (adults and adolescents) affected by Fabry disease.
- Trial name
- RISE (NCT05710692)
- Testing
- PRX-102 1 mg/kg every 2 weeks, PRX-102 2 mg/kg every 4 weeks
- Where
- 10 sites in Japan
- Volunteers
- 16 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Down Syndrome, Edwards Syndrome
Non-Invasive Screening for Fetal Aneuploidy
The purpose of this study is to detect whole chromosome abnormalities in maternal blood.
- Trial name
- NCT02317965
- Testing
- Maternal Blood Draw
- Where
- 10 sites in United States
- Volunteers
- 340 people
- Sponsor
- Progenity, Inc.
Systemic Lupus Erythematosus
Web-based Genetic Research on Lupus
The goal of this new lupus research study is two-fold: first, to understand the genetic associations found between people's DNA and this disease, and second, to apply this understanding to drug development efforts with the…
- Trial name
- NCT02530944
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- 23andMe, Inc.
Hereditary Angioedema
Expanded Access Program With Lanadelumab for Japanese People With Hereditary Angioedema
The expanded access program allows people to gain access to an unlicensed treatment on compassionate grounds. Lanadelumab, also known as TAK-743, is a medicine to help prevent hereditary angioedema attacks.
- Trial name
- NCT04687137
- Testing
- TAK-743 300 mg
- Where
- 9 sites in Japan
- Volunteers
- 12 people
- Sponsor
- Takeda
Neuronal Ceroid Lipofuscinosis CLN5
Gene Therapy Study for Children With CLN5 Batten Disease
This is a prospective, non-randomized, open-label, dose escalation study of a single administration of gene therapy in children who are 3 to 9 years old with Neuronal Ceroid Lipofuscinosis (Batten) Subtype 5 (CLN5) disease.
- Trial name
- CLN5-200 (NCT05228145)
- Testing
- NGN-101
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 6 people
- Sponsor
- Neurogene Inc.
Fabry Disease
Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease
GROUND study is an Italian, multicenter retrospective longitudinal cohort study with a cross-sectional phase with the aim to quantify the severe clinical burden in terms of severe and fatal outcomes and extension of clinical…
- Trial name
- GROUND (NCT04916977)
- Testing
- FD patients
- Where
- 7 sites in Italy
- Volunteers
- 200 people
- Sponsor
- Chiesi Italia
Epidermolysis Bullosa
Allogeneic ABCB5-positive Dermal Mesenchymal Stromal Cells for Treatment of Epidermolysis Bullosa (Phase III)
The aim of this clinical trial is to investigate the safety and efficacy of allo-APZ2-OTS administered intravenously to subjects with recessive dystrophic epidermolysis bullosa (RDEB) compared to placebo.
- Trial name
- NCT05838092
- Testing
- allo-APZ2-OTS
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- RHEACELL GmbH & Co. KG
Congenital Bleeding Disorder, Haemophilia A
Safety and Mode of Action of a Single Dose and Multiple Doses of Long Acting Activated Recombinant Human Factor VII in Patients With Haemophilia A and B
This trial is conducted in Europe. The aim of this clinical trial is to investigate the safety and pharmacokinetics (the effect of the body on the investigated drug) of long acting activated recombinant human factor VII…
- Conditions
- Congenital Bleeding Disorder, Haemophilia A, Haemophilia B
- Trial name
- NCT00922792
- Testing
- activated recombinant human factor VII, long acting
- Where
- Spain
- Volunteers
- 8 people
- Sponsor
- Novo Nordisk A/S
Alpha1-antitrypsin Deficiency
Study of the Effect of Aerosolized, Recombinant Alpha 1-Antitrypsin on Epithelial Lining Fluid Analytes in Subjects With Alpha 1-Antitrypsin Deficiency
The study was a Phase 1B/2A, uncontrolled, open-label, single-center study in individuals with congenital AAT (alpha 1-antitrypsin) deficiency.
- Trial name
- NCT00157092
- Testing
- Aerosolized, Recombinant Alpha 1-Antitrypsin
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Baxalta now part of Shire
Cystic Fibrosis
Trial to Evaluate Efficacy and Safety of Lenabasum in Cystic Fibrosis
This is a Phase 2 multicenter, double-blind, randomized, placebo-controlled study assessing the efficacy and safety of lenabasum for the treatment of cystic fibrosis in patients 12 years of age or older.
- Trial name
- NCT03451045
- Testing
- Lenabasum 20 mg, Lenabasum 5 mg
- Where
- 105 sites in United States, Austria and 19 more
- Volunteers
- 447 people
- Sponsor
- Corbus Pharmaceuticals Inc.
Atopic Dermatitis, Eczema
Clinical-Instrumental Study To Evaluate And Compare The Efficacy And Tolerability Of Two Emollients Products In Atopic Dermatitis
Atopic dermatitis (AD) is a chronic inflammatory skin disease associated with erythema, scaly and oozing plaques, and severe pruritus which has an important impact on quality of life and quality of sleep.
- Trial name
- NCT06930365
- Testing
- Anti-itching and repairing treatment. Emollient., Emollient cream
- Where
- Georgia
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- NAOS Les Laboratoires
Dermatitis Atopic
A Study to Assess the Reliability/Feasibility of Using Emerald Touchless Sensor for Scratching and Sleep Quantification in a Subset of Participants From PEDISTAD Study (OBS15333; NCT03687359)
Primary objective: To explore and quantify the association between nighttime scratching and sleep patterns objectively in pediatric participants with moderate to severe atopic dermatitis (AD) using an innovative Emerald touchless…
- Trial name
- NCT05235724
- Where
- 7 sites in United States
- Volunteers
- 18 people
- Sponsor
- Sanofi
MPS IIIB (Sanfilippo B Syndrome)
Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging
The purpose of the study is to characterize structural abnormalities in the brain and the integrity of the blood brain barrier in patients with mucopolysaccharidosis type IIIB (MPS IIIB).
- Trial name
- NCT02090179
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Age-related Macular Degeneration
Efficacy and Safety of Two Different Brolucizumab 6 mg Dosing Regimens in Neovascular Age-related Macular Degeneration
The purpose of this study was to evaluate the efficacy and safety of two different brolucizumab 6 mg dosing regimens in patients with visual impairment due to age-related macular degeneration (AMD) who have previously received…
- Trial name
- FALCON (NCT04679935)
- Testing
- Brolucizumab
- Where
- 19 sites in Germany, Switzerland
- Volunteers
- 52 people
- Sponsor
- Novartis Pharmaceuticals
Alzheimer's Disease, Huntington Disease
A Study In Healthy Volunteers To Estimate The Pharmacokinetics Of Four Modified-Release Formulations Of Dimebon (Latrepirdine)
This study will evaluate four different modified release formulation to estimate the amount of dimebon available to the body relative to the current dimebon formulation that is given three times a day.
- Trial name
- NCT00988624
- Testing
- Dimebon IR Tablet, Dimebon MR1, Dimebon MR2
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Pfizer
Chronic Granulomatous Disease
Gene Therapy for Chronic Granulomatous Disease in Korea
The purpose of this study is to evaluate the safety and efficacy of administration of autologous hematopoietic stem cells transduced with MT-gp91 retroviral vector for patients with X-linked chronic granulomatous disease.
- Trial name
- NCT00778882
- Testing
- VM106
- Where
- South Korea
- Sponsor
- Helixmith Co., Ltd.
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