Clinical trials: Genetics Syndrome
Sickle Cell Disease
Study to Assess Safety and Impact of SelG1 With or Without Hydroxyurea Therapy in Sickle Cell Disease Patients With Pain Crises
The purpose of this study was to determine whether the investigational drug SelG1 when given to sickle cell disease patients either taking or not taking hydroxyurea was effective in preventing or reducing the occurrence of pain…
- Trial name
- SUSTAIN (NCT01895361)
- Testing
- SelG1
- Where
- 56 sites in United States, Brazil and 1 more
- Volunteers
- 198 people
- Sponsor
- Reprixys Pharmaceutical Corporation
Cystic Fibrosis
Early Signs of Efficacy Study With Riociguat in Adult Homozygous Delta F508 Cystic Fibrosis Patients
Assessment of the safety, tolerability and early signs of efficacy of three times a day orally administered BAY63-2521 in adult delta F508 homozygous Cystic Fibrosis patients not on treatment with Orkambi
- Trial name
- NCT02170025
- Testing
- Riociguat (Adempas, BAY63-2521)
- Where
- 10 sites in United States, Belgium and 5 more
- Volunteers
- 21 people
- Sponsor
- Bayer
Congenital Bleeding Disorder, Haemophilia A
Safety and Efficacy of Turoctocog Alfa Pegol (N8-GP) in Previously Untreated Patients With Haemophilia A
This trial is conducted globally. The aim of the trial is to investigate the safety and efficacy of turoctocog alfa pegol (N8-GP) in previously untreated patients (PUPs) with haemophilia A.
- Trial name
- pathfinder™6 (NCT02137850)
- Testing
- turoctocog alfa pegol
- Where
- 96 sites in United States, Algeria and 21 more
- Volunteers
- 124 people
- Sponsor
- Novo Nordisk A/S
Sickle Cell Disease
A Relative Bioavailability Study of a Prasugrel Orally Disintegrating Tablet
This study compares the clinical tablet formulation of prasugrel taken orally with an orally disintegrating tablet (ODT) taken orally.
- Trial name
- NCT01430091
- Testing
- Prasugrel (clinical formulation), Prasugrel (Orally Disintegrating Tablet [ODT])
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Eli Lilly and Company
Gaucher Disease, Type 1
A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to this deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00430625
- Testing
- VPRIV ®,
- Where
- 5 sites in Argentina, Israel and 3 more
- Volunteers
- 25 people
- Sponsor
- Shire
Tourette's Disorder, Tic Disorder
Safety and Tolerability of Once-daily Oral Aripiprazole in Children and Adolescents With Tourette's Disorder
The goal of the current trial is to determine safety of Once-daily aripiprazole in reducing Total Tic Severity in children and adolescents with Tourette's Disorder.
- Trial name
- NCT01727713
- Testing
- Aripiprazole
- Where
- 33 sites in United States, Canada and 2 more
- Volunteers
- 110 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumor (GIST)
A Study of the Efficacy and Safety of Imatinib Mesylate in Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors Expressing C-kit Gene
In the core study, participants with unresectable or metastatic gastrointestinal stromal tumors expressing c-kit were treated with either 400 mg or 600 mg imatinib mesylate for 3 years.
- Trial name
- NCT00237185
- Testing
- Imatinib mesylate
- Where
- 5 sites in United States, Australia and 1 more
- Volunteers
- 148 people
- Sponsor
- Novartis Pharmaceuticals
Angelman Syndrome
Minocycline in the Treatment of Angelman Syndrome
There is mounting evidence to suggest that a treatment for Angelman syndrome is not just possible, but probable. The lack of known molecular targets associated with AS has hampered the development of specific therapeutics.
- Trial name
- NCT01531582
- Testing
- minocycline
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University of South Florida
Retinitis Pigmentosa, Usher Syndrome Type 2
Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
This clinical trial is a single-site, 30 patient study for participants who have early stage retinitis pigmentosa, or Usher syndrome (type 2 or 3). Funding Source - FDA OOPD and Foundation Fighting Blindness.
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Usher Syndrome Type 3
- Trial name
- NCT01530659
- Testing
- NT-501
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Neurotech Pharmaceuticals
Sickle Cell Disease
iCanCope With Sickle Cell Pain
The project will test a tailored web and smartphone-based application (iCanCope with SCD) to improve pain self-management and functioning in youth (aged 12-18) with sickle cell disease.
- Trial name
- NCT03201874
- Testing
- Pain self-management, Education
- Where
- 4 sites in United States, Canada
- Volunteers
- 137 people
- Sponsor
- Seattle Children's Hospital
Hyperhomocysteinemia, Obesity
Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children
The purpose of the present study was to determine whether folic acid supplementation could reduce plasma homocysteine in obese children and to determine the association between dietary folate, serum folate and homocysteine level…
- Trial name
- NCT01766310
- Testing
- Folic Acid
- Where
- 2 sites in Thailand
- Volunteers
- 50 people
- Sponsor
- Queen Sirikit National Institute of Child Health
Neurodegenerative Disease, Weight Loss
Electronic-health Application To Measure Outcomes REmotely Clinical Trial
This is a phase II feasibility, safety, tolerability and preliminary efficacy study of an e-Health application versus in-person nutritional counseling to maintain or increase weight in patients with neurodegenerative diseases…
- Conditions
- Neurodegenerative Disease, Weight Loss, Amyotrophic Lateral Sclerosis, Parkinson's Disease
- Trial name
- EAT MORE (NCT02418546)
- Testing
- In-Person Nutritional Counseling by a Registered Dietitian, Nutritional counseling using an e-Health Application
- Where
- United States
- Volunteers
- 78 people
- Sponsor
- Massachusetts General Hospital
Healthy
Study of PF 04965842 Effect on MATE1/2K Activity in Healthy Participants
This is a Phase 1, randomized, 2 way crossover, open label study of the effect of PF-04965842 on metformin (a probe for MATE1/2K activity) PK in healthy adult participants.
- Trial name
- NCT03796182
- Testing
- Metformin, PF-04965842
- Where
- Belgium
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Pfizer
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Atopic Dermatitis
Phase 2a Study of Efficacy and Safety of OpSCF in Moderate to Severe AD (Atopic Dermatitis)
The purpose of this study is to determine the efficacy and safety of a monoclonal antibody, OpSCF, in the treatment of adults with moderate to severe Atopic Dermatitis (Eczema). OpSCF will be compared to a placebo.
- Trial name
- NCT06101823
- Testing
- OpSCF
- Where
- 22 sites in United States, Canada
- Volunteers
- 50 people
- Sponsor
- Insmed Incorporated
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
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