Clinical trials: Congenital Abnormalities
Leber Hereditary Optic Neuropathy (LHON)
Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey
The objective of this survey is to establish the clinical course of vision loss and recovery in patients with a genetically confirmed diagnosis of Leber Hereditary Optic Neuropathy (LHON).
- Trial name
- NCT01892943
- Where
- 8 sites in Belgium, Denmark and 3 more
- Volunteers
- 306 people
- Sponsor
- Santhera Pharmaceuticals
Primary Immunodeficiency (PID)
Gammanorm Quality of Life Study in Immunodeficient Patients Using Rapid Push or Pumps
The purpose of this study is to compare satisfaction (LQI questionnaire, factor I: treatment interference) in PID patients receiving subcutaneous injections of Gammanorm® 165 mg/mL according to the delivery device.
- Trial name
- NCT02180763
- Testing
- Gammanorm
- Where
- 8 sites in France
- Volunteers
- 31 people
- Sponsor
- Octapharma
Hemophilia B
Phase I/IIa Study of FIXFc in Hemophilia B Patients
The primary objective of the study is to assess safety of FIXFc at doses ranging from 1 to 100 IU/kg.
- Trial name
- NCT00716716
- Testing
- rFIXFc
- Where
- 6 sites in United States
- Volunteers
- 10 people
- Sponsor
- Bioverativ Therapeutics Inc.
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
Sickle Cell Disease
A Phase 2 Open-label Study to Evaluate the Activity of Etavopivat on Transcranial Doppler Velocities in Pediatric Patients With Sickle Cell Disease Who Are at Increased Risk for Primary Stroke
The study will test a new medicine, etavopivat, for sickle cell disease and see if it is safe and help-ful for participants with sickle cell disease who are at an increased risk of stroke.
- Trial name
- HIBISCUS 3 (NCT05953584)
- Testing
- Etavopivat, Hydroxyurea
- Where
- 9 sites in India, Nigeria and 1 more
- Volunteers
- 27 people
- Sponsor
- Forma Therapeutics, Inc.
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
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
Fabry Disease
Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks
This open-label switchover study will assess the safety, efficacy, and pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg administered every 4 weeks for 52 weeks in Fabry patients previously treated with ERT: agalsidase…
- Trial name
- BRIGHT (NCT03180840)
- Testing
- Pegunigalsidase alfa
- Where
- 14 sites in United States, Belgium and 5 more
- Volunteers
- 30 people
- Sponsor
- Protalix
Cystic Fibrosis
PTC124 for Cystic Fibrosis
In some patients with cystic fibrosis (CF), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the cystic fibrosis transmembrane regulator (CFTR) protein.
- Trial name
- NCT00234663
- Testing
- PTC124
- Where
- 5 sites in United States
- Volunteers
- 24 people
- Sponsor
- PTC Therapeutics
Skin Cancer, Skin Diseases
Multi-modal Quantitative Imaging of the Skin
This clinical trial is about evaluating the suitability of multi-modal imaging technology, which covers virtually the entire body, to evaluate the possibility of screening and early detection of disease.
- Conditions
- Skin Cancer, Skin Diseases, Atopic Dermatitis, Psoriasis
- Trial name
- DermaFlow (NCT06989216)
- Where
- 3 sites in Sweden
- Volunteers
- 8,000 people, healthy volunteers welcome
- Sponsor
- HJN Sverige AB/Neko Health
Hemophilia B
Study Evaluating On-Demand Treatment With BeneFIX In Chinese Subjects
This study will evaluate the safety and efficacy of on-demand treatment with BeneFIX in Chinese hemophilia B subjects.
- Trial name
- NCT00866606
- Testing
- Benefix
- Where
- 6 sites in China
- Volunteers
- 35 people
- Sponsor
- Wyeth is now a wholly owned subsidiary of Pfizer
Elective Colonoscopy
Efficacy and Safety of mAnnitol in Bowel Preparation During Elective Colonoscopy and Comparison With Moviprep®
The purpose of this dose finding/comparative efficacy study is to first single out the most appropriate dose of mannitol for bowel preparation (phase II) and, subsequently, demonstrate the non-inferiority of the efficacy of…
- Trial name
- SATISFACTION (NCT04759885)
- Testing
- Phase II: NTC015 low dose, Phase II: NTC015 medium dose, Phase II: NTC015 high dose
- Where
- 35 sites in France, Germany and 2 more
- Volunteers
- 886 people
- Sponsor
- NTC srl
Infantile Colics, Constipation
Randomized, Blinded, Placebo-Controlled Evaluation of BioAmicus Complete
This is a randomized, single-blind, placebo-controlled study to evaluate the efficacy of the dietary supplement BioAmicus Complete (oral drops; a mixture of 10 strains of lacto- and bifidobacteria) in managing functional…
- Conditions
- Infantile Colics, Constipation, Infantile Diarrhea, Atopic Dermatitis
- Trial name
- NCT07444008
- Testing
- BioAmicus Complete
- Where
- Russia
- Volunteers
- 140 people
- Sponsor
- NovoNatum Ltd
Ornithine Transcarbamylase (OTC) Deficiency
Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency
This is a Phase 1/2, open-label, single arm, multicenter, safety and dose finding study of DTX301 in adults with late-onset OTC deficiency.
- Trial name
- CAPtivate (NCT02991144)
- Testing
- scAAV8OTC, Reactive Corticosteroid Taper Regimen, Prophylactic Corticosteroid Taper Regimen
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 16 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Alpha1-Antitrypsin Deficiency
Safety and Pharmacokinetics of Alpha-1 MP (Alpha1-proteinase Inhibitor (Human), Modified Process) in Participants With Alpha1-Antitrypsin Deficiency
This study is a multicenter, open-label trial to evaluate the safety and pharmacokinetics of weekly intravenous infusions of 60 mg/kg of Alpha-1 MP (alpha1-proteinase inhibitor (human), modified process) for 8 weeks.
- Trial name
- NCT02870309
- Testing
- Alpha-1 MP
- Where
- 2 sites in Japan
- Volunteers
- 4 people
- Sponsor
- Grifols Therapeutics LLC
Hemophilia B
Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B
Primary Objective: To evaluate the safety (acute effects associated with infusions, and inhibitor development), pharmacokinetics (PK), and efficacy with respect to breakthrough bleeding during prophylaxis and with respect to…
- Trial name
- NCT00768287
- Testing
- IB1001, nonacog alfa
- Where
- 23 sites in United States, France and 5 more
- Volunteers
- 77 people
- Sponsor
- Medexus Pharma, Inc.
Hemophilia A
A Trial Investigating Safety and Efficacy of Treatment With BAY94-9027 in Severe Hemophilia A
Haemophilia A is an inherited disorder in which one of the proteins, Factor VIII, needed to form blood clots is missing or not present in sufficient levels.
- Trial name
- PROTECT-VIII (NCT01580293)
- Testing
- BAY94-9027
- Where
- 59 sites in United States, Austria and 18 more
- Volunteers
- 145 people
- Sponsor
- Bayer
Advanced Solid Malignancy, Safety and Tolerability
Safety, Tolerability & Potential Anti-cancer Activity of Increasing Doses of AZD5363 in Different Treatment Schedules
This study is designed to investigate the safety and tolerability of a new drug, AZD5363, in patients with advanced cancer - and to identify a dose and schedule that can be used in the future.
- Conditions
- Advanced Solid Malignancy, Safety and Tolerability, Pharmacokinetics, Pharmacodynamics
- Trial name
- NCT01226316
- Testing
- AZD5363
- Where
- 34 sites in United States, Canada and 8 more
- Volunteers
- 285 people
- Sponsor
- AstraZeneca
Fed
Galantamine Bioequivalence Study of Dr. Reddy's Under Fed Condition
Galantamine Hydrobromide Tablets, Bioequivalence study of Dr. Reddy's under Fed condition.
- Trial name
- NCT01372306
- Testing
- Reminyl
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited