Clinical trials: Genetic Diseases, Inborn
Severe Hemophilia A
Human Cell Line-derived Recombinant Factor VIII (Human-cl-rhFVIII) in Previously Untreated Patients
Investigate the inhibitor development rate of Human cl rhFVIII in previously untreated patients with severe Hemophilia A.
- Trial name
- NCT01712438
- Testing
- Human cl rhFVIII
- Where
- 37 sites in United States, Belarus and 15 more
- Volunteers
- 110 people
- Sponsor
- Octapharma
Age Related Macular Degeneration, Retinitis Pigmentosa
Visual Activity Evoked by Infrared in Humans After Dark Adaptation
This pilot study will evaluate the visual response to infrared (IR) in humans after dark adaptation. The investigators plan to determine which wavelength and intensity the human eye is most sensitive to in healthy and color-blind…
- Conditions
- Age Related Macular Degeneration, Retinitis Pigmentosa, Congenital Stationary Night Blindness, Colorblindness
- Trial name
- NCT02909985
- Testing
- Tungsten halogen light with narrow bandpass filters
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- University of New Mexico
Atopic Dermatitis
Evaluating the Effects of Tradipitant vs. Placebo in Atopic Dermatitis (EPIONE)
This is a multicenter, randomized, double-blind, placebo-controlled study to be conducted in the United States in subjects with atopic dermatitis.
- Trial name
- NCT03568331
- Testing
- Tradipitant
- Where
- 70 sites in United States
- Volunteers
- 375 people
- Sponsor
- Vanda Pharmaceuticals
Arthritis, Gouty
Efficacy and Safety of a Single Dose of Canakinumab (ACZ885) in Hospitalized Patients With Acute Gout
This is an exploratory proof-of-concept study to evaluate the safety and efficacy of canakinumab (ACZ885) for inflammation and pain associated with acute gouty arthritis.
- Trial name
- NCT00663169
- Testing
- canakinumab, dexamethasone
- Where
- 4 sites in United States, Switzerland and 1 more
- Volunteers
- 6 people
- Sponsor
- Novartis
Leber's Congenital Amaurosis
Study to Evaluate QR-110 in Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
The purpose of this study is to evaluate the safety and tolerability of QR-110 administered via intravitreal injection in subjects with LCA due to the CEP290 p.Cys998X mutation.
- Trial name
- NCT03140969
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 11 people
- Sponsor
- Laboratoires Thea
Cystic Fibrosis
Phase 3 Study of Aztreonam for Inhalation Solution (AZLI) in a Continuous Alternating Therapy Regimen for the Treatment of Chronic Pseudomonas Aeruginosa Infection in Patients With CF
The primary objective of this study is to evaluate the safety and efficacy of a CAT regimen with aztreonam for inhalation solution (AZLI) and tobramycin inhalation solution (TIS) in adult and pediatric subjects with cystic…
- Trial name
- AZLI CAT (NCT01641822)
- Testing
- AZLI, Tobramycin inhalation solution
- Where
- 71 sites in United States
- Volunteers
- 107 people
- Sponsor
- Gilead Sciences
Neurofibromatosis 2, Progressive Vestibular Schwannoma (VS)
Phase 2 Clinical Trial of Crizotinib for Children and Adults With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas
Subjects with Neurofibromatosis Type 2 (NF2) and progressive vestibular schwannoma (VS) will be treated with crizotinib administered orally.
- Trial name
- NF110 (NCT04283669)
- Testing
- Crizotinib
- Where
- 15 sites in United States
- Volunteers
- 12 people
- Sponsor
- University of Alabama at Birmingham
Hemophilia B
RIXUBIS PMS India (RIXUBIS PMS)
The purpose of this study is to characterize the safety and describe the effectiveness of RIXUBIS in routine clinical practice.
- Trial name
- NCT03565237
- Testing
- RIXUBIS: On-Demand, RIXUBIS: Prophylaxis
- Where
- India
- Volunteers
- 25 people
- Sponsor
- Baxalta now part of Shire
Osteogenesis Imperfecta, Type I, Osteogenesis Imperfecta Type III
A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804
The purpose of this study is to select a suitable dose of BPS804 by measuring the strength/quality of bone using a special type of CT scanner. Participants will be treated for 12 months and followed up for a further 12 months.
- Conditions
- Osteogenesis Imperfecta, Type I, Osteogenesis Imperfecta Type III, Osteogenesis Imperfecta Type IV
- Trial name
- Asteroid (NCT03118570)
- Testing
- setrusumab, Calcium, Vitamin D
- Where
- 25 sites in United States, Canada and 3 more
- Volunteers
- 112 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Hypertension, Congestive Cardiomyopathy
The Acute Effects of the Angiotensin-converting Enzyme Inhibitor Enalaprilat on Flow Distribution
The primary objective of this study is to study the acute effects of angiotensin-converting enzyme inhibitor (ACEI) on systemic, pulmonary and cerebral blood flow in post bidirectional cavopulmonary connection (BCPC) patients.
- Trial name
- NCT00741156
- Testing
- Enalaprilat
- Where
- Canada
- Volunteers
- 12 people
- Sponsor
- The Hospital for Sick Children
Healthy Volunteers
A Study of RGLS8429 in Healthy Volunteers
Primary Objective To assess the safety and tolerability of single ascending doses of RGLS8429 Secondary Objectives To identify dose-limiting toxicity (DLT) and to determine the maximum tolerated dose (MTD) of a single SC dose of…
- Trial name
- NCT05429073
- Testing
- RGLS8429
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Regulus Therapeutics Inc.
Non-transfusion Dependent Thalassemia
Efficacy and Safety of Deferasirox in Non-transfusion Dependent Thalassemia Patients With Iron Overload and a One Year Open-label Extension Study
CICL670A2209: This study will evaluate the safety and efficacy of deferasirox in non-transfusion dependent thalassemia patients with iron overload.
- Trial name
- THALASSA (NCT00873041)
- Testing
- deferasirox
- Where
- 21 sites in United States, Greece and 7 more
- Volunteers
- 166 people
- Sponsor
- Novartis Pharmaceuticals
Niemann-Pick Disease, Type C
Adrabetadex to Treat Niemann-Pick Type C1 (NPC1) Disease
Due to different study designs, the sponsor separated Part C into this separate registration (NCT04958642), leaving Parts A/B in NCT02534844.
- Trial name
- NCT04958642
- Testing
- Adrabetadex
- Where
- 30 sites in United States, Australia and 7 more
- Volunteers
- 66 people
- Sponsor
- Mandos LLC
Atopic Dermatitis
Efficacy and Safety Study of the Use of Benralizumab for Patients With Moderate to Severe Atopic Dermatitis
The purpose of the study is to compare the efficacy and safety of benralizumab versus placebo and to compare benralizumab dosing regimens during extension period.
- Trial name
- NCT04605094
- Testing
- Benralizumab
- Where
- 51 sites in United States, Australia and 6 more
- Volunteers
- 194 people
- Sponsor
- AstraZeneca
Hyperlipoproteinemia Type I, Hypertriglyceridemia
Orlistat for the Treatment of Type I Hyperlipoproteinemia
Patients with Type I Hyperlipoproteinemia (T1HLP) have a rare form of hypertriglyceridemia marked by significant chylomicronemia and recurrent episodes of acute pancreatitis.
- Trial name
- T1HLP (NCT02767531)
- Testing
- Orlistat
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Texas Southwestern Medical Center
Polycystic Kidney, Autosomal Dominant, Polycystic Liver Disease
Octreotide in Severe Polycystic Liver Disease
This study will evaluate the effect of Octreotide LAR® on the liver volumes of patients with severe polycystic liver disease who are not candidates or decline surgical treatments such as liver cyst fenestration, liver resection…
- Conditions
- Polycystic Kidney, Autosomal Dominant, Polycystic Liver Disease, Hepatomegaly, Liver Diseases
- Trial name
- NCT00426153
- Testing
- Octreotide
- Where
- United States
- Volunteers
- 42 people
- Sponsor
- Mayo Clinic
Angelman Syndrome
Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome
This study is designed to determine the highest dose of levodopa/carbidopa that can be tolerated without any serious side effects by children with Angelman syndrome.
- Trial name
- NCT00829439
- Testing
- Levodopa/Carbidopa (4:1)
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Boston Children's Hospital
Hemophilia B
BAX 326 Pediatric Study
The purpose of this study is to assess BAX 326 pharmacokinetic parameters, to evaluate its hemostatic efficacy, safety, immunogenicity, and changes in health-related quality of life in pediatric patients.
- Trial name
- NCT01488994
- Testing
- BAX326
- Where
- 11 sites in India, Poland and 4 more
- Volunteers
- 23 people
- Sponsor
- Baxalta now part of Shire
Phenylketonuria (PKU)
Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria
This is a Phase 3 open-label randomized controlled study enrolling approximately 54 adolescents with PKU. The study is designed to assess the safety and efficacy of pegvaliase injections.
- Trial name
- PEGASUS (NCT05270837)
- Testing
- Pegvaliase, Diet Only
- Where
- 16 sites in United States, Germany
- Volunteers
- 55 people
- Sponsor
- BioMarin Pharmaceutical
Sickle Cell Disease
SCD-Haplo: Phase II Study of HLA-Haploidentical SCT for Aggressive SCD
Related donor stem cell transplantation using the alemtuzumab/ TBI platform has been shown to be a safe strategy to cure severe sickle cell disease.
- Trial name
- SCD-Haplo (NCT02013375)
- Testing
- Haploidentical Transplant, Alemtuzumab, Total Body Irradiation
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Damiano Rondelli, MD
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