Clinical Trials on Sex Chromosome Abnormalities in Portugal

Total 215 results

Alnylam Pharmaceuticals

Completed

Patisiran in Patients With Hereditary Transthyretin-mediated Amyloidosis (hATTR Amyloidosis) Disease Progression Post-Liver Transplant

Amyloidosis, Familial | Transthyretin Amyloidosis

France, Germany, Italy, Portugal, Spain, Sweden, United Kingdom
Ultragenyx Pharmaceutical Inc

Completed

A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)

Mucopolysaccharidosis | Sly Syndrome | Mucopolysaccharidosis VII | MPS VII

United States, Brazil, Mexico, Portugal
Ultragenyx Pharmaceutical Inc

Completed

Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age

Mucopolysaccharidosis | Sly Syndrome | Mucopolysaccharidosis VII | MPS VII

Spain, United States, Portugal
Aeglea Biotherapeutics

Completed

A Study of AEB1102 (Pegzilarginase) in Patients With Arginase I Deficiency (AEB1102)

Arginase I Deficiency | Hyperargininemia

United States, Canada, United Kingdom, Portugal
Boehringer Ingelheim

Recruiting

A Study to Test Whether Spesolimab Helps People With a Skin Disease Called Netherton Syndrome

Netherton Syndrome

Belgium, United Kingdom, Australia, Germany, China, Malaysia, United States, Japan, France, Israel, Bulgaria, Italy, Finland, Switzerland, Netherlands, Portugal
Sanofi
Bristol-Myers Squibb

Completed

Efficacy And Safety Of Clopidogrel In Neonates /Infants With Systemic To Pulmonary Artery Shunt Palliation (CLARINET)

Heart Defects, Congenital

France, Canada, Brazil, Poland, Russian Federation, Germany, Italy, Netherlands, Portugal, Spain, Sweden, India, Malaysia, Singapore, Taiwan, Belgium, Mexico, Argentina, Denmark, Egypt, Finland, Hungary, Israel, Norway, Korea, Republic of, Hong Kong and more
BioMarin Pharmaceutical

Completed

Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02

MPS VI

United States, Australia, France, Brazil, Germany, Portugal, United Kingdom
SECRETO Study Consortium
Sahlgrenska University Hospital, Sweden; Academy of Finland; Hospital District... and other collaborators

Recruiting

Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers, and Outcome (SECRETO)

Ischemic Stroke | Thrombosis | Brain Infarction | Foramen Ovale, Patent

Italy, Estonia, Finland, Germany, Lithuania, Netherlands, Norway, Sweden, Turkey, United Kingdom, Greece, Portugal, Spain
University of Cagliari

Unknown

Behçet's Disease Overall Damage Index (BODI)

Behçet Disease | Behcet's Disease Aggravated

Greece, Italy, Portugal, Spain, United Arab Emirates
Alexion Pharmaceuticals

Terminated

Natural History Study to Characterise the Course of Disease Progression in Participants With Mucopolysaccharidosis Type IIIB

MPS IIIB (Sanfilippo B Syndrome)

Spain, United States, Brazil, United Kingdom, Portugal, Italy
Institut de Recherches Internationales Servier

Terminated

Long-term Safety of Gevokizumab in the Treatment of Patients With Chronic Non-infectious Uveitis (EYEGUARD-X) (EYEGUARD-X)

Chronic Uveitis

Italy, United Kingdom, Korea, Republic of, Portugal, Taiwan, Australia, Turkey, Tunisia, Austria, France, Germany, Greece, Spain
Pfizer

Completed

An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy

Familial Amyloid Polyneuropathy | ATTR-PN

Sweden, Brazil, Germany, Argentina, France, Portugal
Aeglea Biotherapeutics

Completed

A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency

Arginase I Deficiency | Hyperargininemia

United States, Canada, United Kingdom, Portugal
University Hospital Muenster

Completed

Prediction of Acute Kidney Injury in Patients With COVID-19

COVID-19 | Acute Kidney Injury | ARDS

Spain, Germany, Portugal, Italy, United Kingdom
QED Therapeutics, Inc.

Recruiting

Prospective Clinical Assessment Study in Children With Hypochondroplasia (HCH)

Hypochondroplasia

United States, Australia, Norway, Portugal, Singapore, Spain, Canada, France, Germany, Sweden, United Kingdom
Pfizer

Terminated

Continuation Study of Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Recifercept in Achondroplasia

Achondroplasia

United States, Australia, Belgium, Denmark, Italy, Portugal, Spain
Takeda

Recruiting

Study to Learn About the Safety of Fazirsiran and if it Can Help People With Alpha-1 Antitrypsin Liver Disease With Mild Liver Scarring (Fibrosis)

Alpha1-Antitrypsin Deficiency

Italy, United States, Poland, Portugal
KU Leuven

Completed

Assessment of Patterns of Patient Reported Outcomes in Adults With Congenital Heart Disease - International Study II (APPROACH-IS II)

Congenital Heart Disease

Botswana, United States, Korea, Republic of, Belgium, Sweden, France, Switzerland, Denmark, Pakistan, Norway, Taiwan, Malta, Brazil, Bulgaria, India, Austria, Argentina, Australia, Cameroon, Canada, Chile, Colombia, Ethiopia, Greece, Italy and more
Astellas Pharma Inc

Completed

Treatment and Control of Atopic Dermatitis With 0.03% Tacrolimus Ointment

Dermatitis, Atopic

France, United Kingdom, Spain, Belgium, Portugal, Netherlands, Finland, Czech Republic, Germany, Hungary, Italy
Kedrion S.p.A.

Recruiting

Clinical Assessment of Pharmacokinetics, Efficacy, and Safety of 10% IVIg in Pediatric PID Patients (KIDCARES10) (KIDCARES10)

Primary Immunodeficiency Disease

Italy, United States, Portugal, Hungary, Russian Federation, Slovakia
Universidade do Porto
Hospital da Luz, Lisboa; Hospital Pedro Hispano; Centro Hospitalar de Leiria; Centro... and other collaborators

Recruiting

Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies (F-CHECK)

Fabry Disease

Portugal
Merit Medical Systems, Inc.

Recruiting

Merit WRAPSODY™ Endoprosthesis for Treatment of Stenosis or Occlusion (WRAP)

Venous Stenosis | Venous Occlusion

Israel, Netherlands, Australia, United Kingdom, Brazil, Germany, New Zealand, Portugal, Greece
University Hospital Tuebingen
Oslo University Hospital; University of Zurich; KU Leuven; UMC Utrecht; University... and other collaborators

Recruiting

Effect of Allopurinol for Hypoxic-ischemic Brain Injury on Neurocognitive Outcome (ALBINO)

Infant, Newborn, Diseases | Encephalopathy, Hypoxic-Ischemic

Netherlands, Germany, Belgium, Austria, Estonia, Finland, Italy, Norway, Spain, Switzerland, Poland, Portugal
Calcilytix Therapeutics, Inc., a BridgeBio company

Recruiting

ADH1 and ADH2 Disease Monitoring Study (DMS) (CLARIFY)

Autosomal Dominant Hypocalcemia

United States, France, Denmark, Australia, Japan, Belgium, Canada, Italy, Netherlands, United Kingdom, Portugal, Finland, Germany
Astellas Pharma Inc

Completed

Treatment and Control of Atopic Dermatitis With 0.1% Tacrolimus Ointment

Dermatitis, Atopic

France, Germany, Spain, Belgium, Netherlands, Finland, Austria, United Kingdom, Italy, Czech Republic, Switzerland, Portugal, Denmark
Pfizer

Terminated

A Study Of Safety, Tolerability And Effectiveness Of Recifercept In Children With Achondroplasia

Achondroplasia

Belgium, United States, Japan, Australia, Portugal, Denmark, Italy, Spain
Universitaire Ziekenhuizen KU Leuven

Recruiting

AMEND-CRT: Mechanical Dyssynchrony as Selection Criterion for CRT (AMEND-CRT)

Heart Failure | Cardiomyopathy, Dilated | Left Ventricular Dyssynchrony | Cardiac Remodeling, Ventricular

Belgium, Switzerland, Germany, France, Poland, Romania, Brazil, Hungary, Latvia, Portugal, Spain
Takeda

Enrolling by invitation

An Extension Study to Learn About the Long-Term Safety of Fazirsiran and if Fazirsiran Can Help People With Alpha-1 Antitrypsin Liver Disease

Alpha1-Antitrypsin Deficiency

United Kingdom, Germany, United States, Austria, Portugal
Ascendis Pharma A/S

Active, not recruiting

A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of TransCon CNP Administered Once Weekly in Prepubertal Children With Achondroplasia

Achondroplasia

United States, Australia, Austria, Denmark, Germany, Ireland, New Zealand, Portugal
Actelion

Terminated

Clinical Study to Assess the Long-term Safety, Tolerability, and Efficacy of Macitentan in Subjects With Eisenmenger Syndrome (MAESTRO-OL)

Pulmonary Arterial Hypertension

China, Malaysia, United States, Austria, Bulgaria, Chile, France, Germany, Greece, Mexico, Philippines, Poland, Portugal, Romania, Russian Federation, Serbia, Spain, United Kingdom, Vietnam
Actelion

Completed

Clinical Study to Evaluate the Effects of Macitentan on Exercise Capacity in Subjects With Eisenmenger Syndrome (MAESTRO)

Pulmonary Arterial Hypertension

China, Malaysia, United States, Austria, Bulgaria, Chile, France, Germany, Greece, Israel, Mexico, Philippines, Poland, Portugal, Romania, Russian Federation, Serbia, Spain, Turkey, United Kingdom, Vietnam
CENTOGENE GmbH Rostock
Shire Human Genetic Therapies, Inc.

Completed

Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation (sifap2)

Fabry Disease | Cerebrovascular Accident

Austria, Croatia, France, Germany, Poland, Portugal, Georgia
Abbott Medical Devices

Recruiting

AMPLATZER PFO Occluder Post Approval Study (PFO PAS)

Stroke | Patent Foramen Ovale

United States, Germany, Canada, Switzerland, Italy, Portugal, United Kingdom
Novartis Pharmaceuticals

Completed

Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) (SMART)

Spinal Muscular Atrophy

Taiwan, Belgium, Canada, United States, Australia, France, Italy, Portugal, United Kingdom
Novo Nordisk A/S

Enrolling by invitation

A Study Following Males With Haemophilia A on Prophylaxis With Esperoct® (pathfinder9)

Haemophilia A

Austria, Spain, Bulgaria, Croatia, Estonia, Hungary, Italy, Lithuania, Portugal, Greece, Germany, Czechia, Slovenia, Switzerland, Slovakia
University of Ulm
University of Pisa; IRCCS Azienda Ospedaliero-Universitaria di Bologna; Medical... and other collaborators

Recruiting

Registry for Patients With Lipodystrophy (ECLip Registry)

Lipodystrophy Acquired | Lipodystrophy Congenital

Austria, France, Germany, Hungary, Italy, Portugal, Spain, Netherlands, Russian Federation, Slovenia, Switzerland, Turkey, United Kingdom
Genzyme, a Sanofi Company

Terminated

A Medical Research Study Designed to Determine if Venglustat Can be a Future Treatment for ADPKD Patients (STAGED-PKD)

Polycystic Kidney, Autosomal Dominant

Belgium, Germany, Czechia, United States, Italy, Poland, Argentina, Australia, Austria, Canada, China, Denmark, France, Israel, Japan, Korea, Republic of, Netherlands, Portugal, Romania, Spain, Taiwan, Turkey, United Kingdom
Amicus Therapeutics

Recruiting

A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease

Fabry Disease

Spain, United States, Japan, Australia, France, Portugal
European Organisation for Research and Treatment...
Gruppo Italiano Malattie EMatologiche dell'Adulto

Completed

Chemotherapy With or Without Gemtuzumab Ozogamicin in Treating Older Patients With Acute Myeloid Leukemia (AML-17)

Leukemia

France, Belgium, Netherlands, Italy, Portugal, Austria, Germany
Novo Nordisk A/S

Enrolling by invitation

A Study Following Males With Haemophilia B on Prophylaxis With Refixia/REBINYN

Haemophilia B

Canada, United Kingdom, Czechia, Germany, Greece, Austria, Belgium, Croatia, Denmark, Finland, Norway, Portugal
Shire
Takeda Development Center Americas, Inc.

Active, not recruiting

A Study of Lanadelumab in Persons With Hereditary Angioedema (HAE) Type I or II (ENABLE)

Hereditary Angioedema (HAE)

Germany, Switzerland, Spain, Israel, Italy, Austria, Portugal, Kuwait
Bambino Gesù Hospital and Research Institute
Radboud University Medical Center; University of Exeter; Consorzio per Valutazioni...

Recruiting

A New Posaconazole Dosing Regimen for Paediatric Patients With Cystic Fibrosis and Aspergillus Infection (cASPerCF)

Cystic Fibrosis | Aspergillosis

Ireland, Spain, Netherlands, France, United Kingdom, Czechia, Germany, Greece, Italy, Portugal, Switzerland
Alnylam Pharmaceuticals

Recruiting

ConTTRibute: A Global Observational Study of Patients With Transthyretin (TTR)-Mediated Amyloidosis (ATTR Amyloidosis) (ConTTRibute)

Transthyretin-Mediated Amyloidosis | ATTR Amyloidosis

Israel, Italy, Netherlands, Spain, United States, France, Denmark, Germany, Portugal, Brazil, Taiwan
Pfizer

Completed

Prevalence and Characteristics of Transthyretin Amyloidosis in Patients With Left Ventricular Hypertrophy of Unknown Etiology (TTRACK)

Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)

Italy, Romania, France, Australia, Austria, Portugal, Slovakia, Slovenia, Spain, United Kingdom
Arrowhead Pharmaceuticals

Completed

Safety, Tolerability and Pharmacodynamic Effect of Fazirsiran (TAK-999, ARO-AAT) (SEQUOIA)

Alpha 1-Antitrypsin Deficiency

United States, Spain, Netherlands, Germany, Italy, Portugal
Pfizer

Completed

Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis

Familial Amyloid Polyneuropathy

United Kingdom, Spain, United States, Argentina, Brazil, France, Germany, Portugal, Sweden
Dicerna Pharmaceuticals, Inc., a Novo Nordisk company

Active, not recruiting

A Study of Belcesiran in Patients With AATLD (ESTRELLA)

Alpha 1-Antitrypsin Deficiency

United Kingdom, United States, Ireland, Belgium, New Zealand, Spain, Netherlands, Portugal, Canada, Australia, France, Austria, Germany, Sweden
Spyryx Biosciences, Inc.

Completed

An Efficacy and Safety Study of SPX-101 Inhalation Solution in Subjects With Cystic Fibrosis ((HOPE-1))

Cystic Fibrosis

United Kingdom, Canada, France, Italy, Portugal
Vertex Pharmaceuticals Incorporated

Completed

A Study to Evaluate the Safety and Efficacy of VX-121 Combination Therapy in Subjects With Cystic Fibrosis

Cystic Fibrosis

United States, Netherlands, United Kingdom, Germany, Portugal
Shire

Terminated

A Study of Replagal in Treatment-naïve Adults With Fabry Disease

Fabry Disease

Spain, Greece, Germany, Portugal, Canada, Finland, Poland, Sweden

Clinical Trials on Sex Chromosome Abnormalities in Portugal

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