Clinical trials: Genetic Diseases, Inborn
Dermatitis, Dermatitis, Atopic
Study to Investigate Efficacy and Safety of PF-04965842 in Subjects Aged 12 Years and Over With Moderate to Severe Atopic Dermatitis With the Option of Rescue Treatment in Flaring Subjects
B7451014 is a Phase 3 study to investigate PF-04965842 in patients aged 12 years and over with a minimum body weight of 40 kg who have moderate to severe atopic dermatitis.
- Conditions
- Dermatitis, Dermatitis, Atopic, Eczema, Skin Diseases
- Trial name
- NCT03627767
- Testing
- PF-04965842 100 mg, PF-04965842 200 mg
- Where
- 235 sites in United States, Argentina and 19 more
- Volunteers
- 1,235 people
- Sponsor
- Pfizer
Thyroid Eye Disease
Treatment of Graves' Orbitopathy to Reduce Proptosis With Teprotumumab Infusions in an Open-Label Clinical Extension Study
The overall objective is to evaluate the safety and efficacy of teprotumumab in the treatment of thyroid eye disease (TED) in participants who participated in the lead-in study HZNP-TEP-301 (NCT03298867; OPTIC) and who were…
- Trial name
- OPTIC-X (NCT03461211)
- Testing
- Teprotumumab
- Where
- 13 sites in United States, Germany and 1 more
- Volunteers
- 51 people
- Sponsor
- Amgen
Pompe Disease
First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
This is an international, multi-center, open-label study designed to evaluate if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.
- Trial name
- NCT02675465
- Testing
- ATB200, AT2221
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 29 people
- Sponsor
- Amicus Therapeutics
Microsatellite Stable (MSS) Colorectal Adenocarcinomas, Colorectal Adenocarcinoma
Study of Nivolumab and Relatlimab in Patients With Microsatellite Stable (MSS) Advanced Colorectal Cancer
The purpose of this study is to evaluate the safety and clinical activity of nivolumab and relatlimab in patients with metastatic or locally advanced microsatellite stable (MSS) colorectal cancer.
- Trial name
- NCT03642067
- Testing
- Nivolumab, Relatlimab
- Where
- United States
- Volunteers
- 59 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Cystic Fibrosis
Sildenafil Exercise: Role of PDE5 Inhibition
Exercise intolerance is an understudied phenomenon in people with CF. The investigators hypothesized that vascular dysfunction plays a significant role, and can be partially reversed by administration of the phosphodiesterase…
- Trial name
- NCT04039087
- Testing
- Sildenafil 40mg oral capsule
- Where
- 2 sites in United States
- Volunteers
- 31 people
- Sponsor
- National Jewish Health
Neurofibromatosis Type 1, Reading Disabilities
Neurobiology and Treatment of Reading Disability in NF-1
The goal of this trial is to determine if children with neurofibromatosis type 1 who have reading disabilities respond the same way-both behaviorally and neurobiologically-to specialized treatment programs as children with…
- Trial name
- NCT00624234
- Testing
- Tutoring Program I, Tutoring Program II
- Where
- United States
- Volunteers
- 184 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University
Cystic Fibrosis, Exocrine Pancreatic Insufficiency
A Study to Evaluate the Mode of Administration and Safety of EUR-1008 (APT-1008) in Infants 1 to 12 Months of Age
A study to determine the safety, effectiveness, and acceptability of 2 methods of administration of EUR-1008 (APT-1008) (Zenpep® [pancrelipase] delayed release capsule) 3,000 lipase units capsule, a pancreatic enzyme product…
- Trial name
- NCT01100606
- Testing
- EUR-1008 (APT-1008)
- Where
- 6 sites in United States
- Volunteers
- 15 people
- Sponsor
- Forest Laboratories
Severe Combined Immunodeficiency
MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
Severe combined immune deficiency (SCID) may result from inherited deficiency of the enzyme adenosine deaminase (ADA). Children with ADA-deficient SCID often die from infections in infancy, unless treated with either a bone…
- Trial name
- NCT00794508
- Testing
- ADA gene transfer
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Donald B. Kohn, M.D.
Sickle Cell Disease
A GBT021601 ADME Microtracer Study in Healthy Volunteers
An Open-label Study of GBT021601 in 8 to 10 healthy male or female participants to evaluate the absorption, distribution, metabolism, and excretion (ADME) of GBT021601.
- Trial name
- NCT05718687
- Testing
- GBT021601
- Where
- Netherlands
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Pfizer
Primary Immune Deficiency Disorder
Study to Evaluate the Efficacy, Tolerability and Safety of Octanorm in Patients With Primary Immunodeficiency Diseases
Clinical phase 3 study to evaluate the efficacy, tolerability and safety of subcutaneous human immunoglobulin (octanorm) in patients with primary immunodeficiency diseases.
- Trial name
- NCT03988426
- Testing
- Octanorm
- Where
- 5 sites in Russia
- Volunteers
- 25 people
- Sponsor
- Octapharma
Cystinuria
TCUPS- Tolvaptan Use in Cystinuria and Urolithiasis: A Pilot Study
The goal of this research project is to establish that in short-term use, tolvaptan is a safe and potentially effective new therapy for cystinuria, by conducting a short-term pilot study of the safety and tolerability of this…
- Trial name
- TCUPS (NCT02538016)
- Testing
- Tolvaptan
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Caleb Nelson
Neurofibromatosis 2, Vestibular Schwannoma
Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors
In this research study the researchers want to learn more about the effects (both good and bad) the study drug selumetinib has on participants with neurofibromatosis type II (NF2) related tumor.
- Conditions
- Neurofibromatosis 2, Vestibular Schwannoma, Meningioma, Ependymoma
- Trial name
- SEL-TH-1601 (NCT03095248)
- Testing
- Selumetinib
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Autosomal Dominant Polycystic Kidney, Hypertension
Effect of Beetroot Juice on Reducing Hypertension in Autosomal Dominant Polycystic Kidney Disease
People with autosomal dominant polycystic kidney disease (ADPKD) develop high blood pressure and kidney disease. Previous studies have shown that a commonly occurring chemical, nitric oxide (NO), is reduced in ADPKD, and may…
- Conditions
- Autosomal Dominant Polycystic Kidney, Hypertension, Endothelial Dysfunction
- Trial name
- BEET-PKD (NCT05401409)
- Testing
- Beetroot juice, Nitrate-depleted beetroot juice
- Where
- 2 sites in Australia
- Volunteers
- 60 people
- Sponsor
- Western Sydney Local Health District
Sickle Cell Disease
A Safety Study of Eptifibatide in Patients With Sickle Cell Disease
This study will evaluate the safety of eptifibatide in sickle cell patients and how well it works during the course of painful crises.
- Trial name
- NCT00834899
- Testing
- Eptifibatide
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- University of North Carolina, Chapel Hill
Hypoparathyroidism, DiGeorge Syndrome
Effects of PTH Replacement on Bone in Hypoparathyroidism
Hypoparathyroidism is a rare condition associated with a low level of parathyroid hormone (PTH) in the blood. Hypoparathyroidism can be genetic and show up in childhood, or it can occur later in life.
- Trial name
- NCT00395538
- Testing
- PTH 1-34
- Where
- United States
- Volunteers
- 46 people
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Huntington's Disease, Chorea
Real World Effectiveness and Safety of Deutetrabenazine in Adult Chinese Participants With Huntington's Disease (HD) Chorea in China
The Primary Objective: To evaluate the real-world effectiveness of deutetrabenazine in adult participants with chorea associated with Huntington's disease in China.
- Trial name
- NCT07601516
- Testing
- Deutetrabenazine
- Where
- 3 sites in China
- Volunteers
- 50 people
- Sponsor
- Teva Branded Pharmaceutical Products R&D LLC
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
HELIOS-B: A Study to Evaluate Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy
This study will evaluate the efficacy and safety of vutrisiran 25 mg administered subcutaneously (SC) once every 3 months (q3M) compared to placebo in participants with ATTR amyloidosis with cardiomyopathy.
- Trial name
- NCT04153149
- Testing
- Vutrisiran, Sterile Normal Saline (0.9% NaCl)
- Where
- 119 sites in United States, Argentina and 30 more
- Volunteers
- 655 people
- Sponsor
- Alnylam Pharmaceuticals
Cystic Fibrosis, Anemia, Iron-Deficiency
Does a Daily Iron Tablet Improve Anemia in Cystic Fibrosis
This study questions whether low-dose ferrous sulfate taken by mouth daily for 6 weeks increases hemoglobin concentration in adult subjects with cystic fibrosis and hypoferremic anemia.
- Trial name
- NCT01755455
- Testing
- Ferrous sulfate 325mg
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Dartmouth-Hitchcock Medical Center
Graft vs Host Disease, Congenital Aniridia
Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation
The ARGOS-IO pressure sensor is intended to be implanted in the human eye in combination with Boston Keratoprosthesis (BKPro) surgery and to remain in place indefinitely.
- Conditions
- Graft vs Host Disease, Congenital Aniridia, Chemical Burns, Stevens-Johnson Syndrome
- Trial name
- NCT02945176
- Testing
- ARGOS-IO system
- Where
- 2 sites in Germany
- Volunteers
- 13 people
- Sponsor
- Implandata Ophthalmic Products GmbH
Cystic Fibrosis
A Study Evaluating Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor in Subjects 6 Through 11 Years of Age With Cystic Fibrosis and F/MF Genotypes
This study will evaluate the efficacy and safety of elexacaftor (ELX) / tezacaftor (TEZ) / ivacaftor (IVA) triple combination (TC) in subjects 6 through 11 years of age with cystic fibrosis (CF) who are heterozygous for F508del…
- Trial name
- NCT04353817
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 34 sites in Australia, Canada and 8 more
- Volunteers
- 121 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
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