Clinical trials: Newborn Diseases
Gaucher Disease
Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different…
- Trial name
- NCT00351156
- Testing
- Blood sample
- Where
- 7 sites in United States
- Volunteers
- 50 people
- Sponsor
- Amicus Therapeutics
Cystic Fibrosis, Mucociliary Clearance
A Trial to Assess the Safety, Tolerability, and Pharmacokinetics of GS-9411 in Healthy Male Volunteers
The purpose of this study is to evaluate the safety and tolerability of escalating doses of GS-9411 in healthy male volunteers. GS-9411 is a sodium channel inhibitor, that may restore airway hydration and mucociliary clearance in…
- Conditions
- Cystic Fibrosis, Mucociliary Clearance, Airway Hydration
- Trial name
- NCT00951522
- Testing
- GS-9411
- Where
- Australia
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Gilead Sciences
Angelman Syndrome
An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome
A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Angelman syndrome
- Trial name
- AS-001 (NCT05011851)
- Testing
- NNZ-2591
- Where
- 3 sites in Australia
- Volunteers
- 17 people
- Sponsor
- Neuren Pharmaceuticals Limited
TTR-mediated Amyloidosis, Amyloidosis, Hereditary
Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR)
The purpose of this study is to provide expanded access of patisiran to patients with hereditary transthyretin-mediated amyloidosis (hATTR).
- Conditions
- TTR-mediated Amyloidosis, Amyloidosis, Hereditary, Amyloid Neuropathies, Familial, Familial Amyloid Polyneuropathies
- Trial name
- NCT02939820
- Testing
- patisiran (ALN-TTR02)
- Sponsor
- Alnylam Pharmaceuticals
Congenital Adrenal Hyperplasia
Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia
This study is a parallel arm, randomised, open-label study, including dose titration and admissions for four overnight stays for 24-hour endocrine profiles.
- Trial name
- NCT02716818
- Testing
- Chronocort®, standard glucocorticoid therapy
- Where
- United States
- Volunteers
- 122 people
- Sponsor
- Neurocrine UK Limited
Huntington's Disease
A Study to Evaluate the Safety and Tolerability of SAGE-718 in Participants With Huntington's Disease
The primary purpose of the study is to evaluate the safety and tolerability of SAGE-718 softgel lipid capsule in participants with Huntington's Disease (HD)
- Trial name
- NCT05655520
- Testing
- SAGE-718
- Where
- 43 sites in United States, Australia and 2 more
- Volunteers
- 153 people
- Sponsor
- Supernus Pharmaceuticals, Inc.
Foramen Ovale, Patent
The Paradigm II Trial: PFX Closure System in Subjects With Cryptogenic Stroke, Transient Ischemic Attack, Migraine or Decompression Illness
The primary objective of this study is to demonstrate the safety and efficacy of the PFX Closure System when utilized for patent foramen ovale (PFO) in patients suffering from cryptogenic stroke (undetermined cause of stroke)…
- Trial name
- NCT00196040
- Testing
- PFX Closure System
- Where
- Germany
- Volunteers
- 60 people
- Sponsor
- Cierra
Cystic Fibrosis
A Study to Evaluate the Efficacy and Safety of VX-661 in Combination With Ivacaftor in Subjects Aged 12 Years and Older With Cystic Fibrosis, Heterozygous for the F508del-CFTR Mutation
Study to evaluate the efficacy of VX-661 in combination with ivacaftor (IVA, VX-770) through Week 12 in participants with cystic fibrosis (CF) who are heterozygous for the F508del mutation on the CF transmembrane conductance…
- Trial name
- NCT02516410
- Testing
- VX-661 plus ivacaftor combination, Ivacaftor
- Where
- 41 sites in United States, Australia and 5 more
- Volunteers
- 168 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
SGA, Turner Syndrome
A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9
The purpose of this study is to find out if somapacitan is safe and how well somapacitan works in children either born small for gestational age or with Turner syndrome, Noonan syndrome or idiopathic short stature.
- Conditions
- SGA, Turner Syndrome, Noonan Syndrome, ISS
- Trial name
- REAL 9 (NCT05723835)
- Testing
- Somapacitan
- Where
- 18 sites in United States, Malaysia and 4 more
- Volunteers
- 47 people
- Sponsor
- Novo Nordisk A/S
Hereditary Hemochromatosis
Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis (HH)
The purpose of this study was to evaluate the efficacy and safety of deferasirox film coated tablet (FCT) versus phlebotomy for the management of iron overload in adults with Hereditary Hemochromatosis (HH) at risk of…
- Trial name
- NCT03203850
- Testing
- Deferasirox FCT, Phlebotomy
- Where
- 11 sites in Belgium, France and 5 more
- Volunteers
- 45 people
- Sponsor
- Novartis Pharmaceuticals
Alpha-Mannosidase B Deficiency, Lysosomal Alpha B Mannosidosis
Biomarker for Mannosidosis Disease (BioMannosidosis)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Mannosidosis disease from blood (plasma)
- Conditions
- Alpha-Mannosidase B Deficiency, Lysosomal Alpha B Mannosidosis, Alpha-Mannosidase Deficiency
- Trial name
- BioMannosido (NCT03264040)
- Where
- 3 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Antithrombin III Deficiency
Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery
Patients with hereditary antithrombin deficiency are at increased risk of venous thrombosis and pulmonary embolism, particularly during certain high risk procedures.
- Trial name
- NCT00110513
- Testing
- Recombinant human antithrombin (rhAT)
- Where
- 17 sites in United States, Australia and 6 more
- Volunteers
- 18 people
- Sponsor
- rEVO Biologics
Atopic Dermatitis
JAK1 Inhibitor With Medicated Topical Therapy in Adolescents With Atopic Dermatitis
This is a randomized, double blind, placebo controlled, parallel group, Phase 3 study to evaluate the efficacy and safety of PF 04965842 in adolescent participants 12 to <18 years of age with moderate to severe AD.
- Trial name
- JADE TEEN (NCT03796676)
- Testing
- PF-04965842, PF04965842
- Where
- 136 sites in United States, Australia and 12 more
- Volunteers
- 287 people
- Sponsor
- Pfizer
Haemophilia B
A Research Study Investigating Nonacog Beta Pegol (N9-GP) for Treatment and Prevention of Bleedings in Chinese People With Haemophilia B
The study investigates how well the medicine called nonacog beta pegol (N9-GP) works in Chinese people with haemophilia B. Participants will be treated with N9-GP.
- Trial name
- Paradigm9 (NCT05365217)
- Testing
- Nonacog beta pegol
- Where
- 15 sites in China
- Volunteers
- 30 people
- Sponsor
- Novo Nordisk A/S
Digestive Disease, Gut Health
Impact of B. Adolescentis iVS-1 Probiotic on Gastrointestinal Outcomes
The study team is conducting a consumer-driven, decentralized clinical research study to assess the impact of the consumer-grade probiotic supplement, iVS-1, on adults with moderate to severe gastrointestinal discomfort.
- Trial name
- NCT07408518
- Testing
- Probiotic
- Where
- United States
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Synbiotic Health
X-Linked Hypophosphatemia
Registry for Patients With X-Linked Hypophosphatemia
This is an international, multicentre, prospective, non-interventional, observational Registry of patients with X-Linked hypophosphatemia (XLH).
- Trial name
- NCT03193476
- Where
- 118 sites in Belgium, Bulgaria and 18 more
- Volunteers
- 1,489 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Atopic Dermatitis
A Study to Learn About the Study Medicine Called Tilrekimig in People With Moderate-to Severe Eczema
The purpose of this study is to find out how well tilrekimig works, how safe it is, and how it affects the body in adults and adolescents with moderate to severe atopic dermatitis (eczema).
- Trial name
- Tilrek (NCT07783425)
- Testing
- Tilrekimig, Dupilumab
- Where
- 32 sites in United States, Japan
- Volunteers
- 1,375 people
- Sponsor
- Pfizer
Familial Mediterranean Fever, FMF
Efficacy and Safety of RPH-104 for Resolution and Prevention of Recurring Attacks in Adult Subjects With Familial Mediterranean Fever With Resistance to or Intolerance of Colchicine
Study purpose is an evaluation of efficacy and safety of RPH-104 in the population of subjects with Familial Mediterranean Fever (FMF) with colchicine resistance or intolerance(i.e. colchicine resistant (crFMF)..
- Trial name
- NCT05092776
- Testing
- RPH-104
- Where
- 14 sites in Armenia, Georgia and 2 more
- Volunteers
- 84 people
- Sponsor
- R-Pharm International, LLC
Spinal Muscular Atrophy (SMA)
SPX-01 Gene Therapy in Pediatric Patients With Spinal Muscular Atrophy Type 1 (RISE)
The goal of this clinical trial is to learn about the safety, and tolerability of giving an experimental gene therapy called SPX-01 to an infant with spinal muscular atrophy (SMA) type 1.
- Trial name
- NCT07903376
- Testing
- SPX-01
- Where
- Iran
- Volunteers
- 1 people
- Sponsor
- Exir Gene Pharmed
Hemophilia A
Study Evaluating BDDRFVIII and ReFacto AF in Hemophilia A
The purpose of this study is to determine the relative bioavailability of ReFacto AF as compared to ReFacto, when each is administered as 2-minute bolus infusions.
- Trial name
- NCT00038935
- Testing
- ReFacto AF
- Sponsor
- Wyeth is now a wholly owned subsidiary of Pfizer
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