Clinical Trials on Genetic Pleomorphism in Portugal

Total 162 results

Universidade do Porto
Universidade Católica Portuguesa

Completed

Efficacy and Safety of a a Biofunctional Textile in the Management of Atopic Dermatitis (2ndDermisII)

Atopic Dermatitis

Portugal
Universidade do Porto
BioMarin Pharmaceutical; Centro Hospitalar do Porto

Completed

Nutritional Status in Phenylketonuria (TNSPKU)

Phenylketonurias

Portugal
University of Minho
Hospital Sao Joao

Completed

Effectiveness of Psychological Interventions in Haemophilia (PSY_HaEMOPEQ)

Haemophilia

Portugal
University of Minho
Hospital Sao Joao; Portuguese hemophilia association and other congenital coagulopathies

Completed

National Survey of People With Haemophilia in Portugal

Haemophilia

Portugal
Swiss Federal Institute of Technology
Instituto de Investigação em Imunologia

Completed

Inhibiting Dietary Iron Absorption in Subjects With Hereditary Hemochromatosis by a Natural Polyphenol Supplement

Iron Metabolism Disorders | Iron Overload | Polyphenols

Portugal, Switzerland
Pilar Azevedo
Queen's University, Belfast; Medical University Innsbruck; Cystic Fibrosis Foundation and other collaborators

Recruiting

COVID-19 Antibody Responses In Cystic Fibrosis (CAR-CF)

COVID-19 | Cystic Fibrosis

Portugal
Universidade do Porto
Centro Hospitalar Universitário São João, E.P.E. (CHUSJ); Centro de Investigação... and other collaborators

Recruiting

Systemic Transthyretin Amyloidosis: Carpal Tunnel Syndrome in a Portuguese Population (CarPoS)

Carpal Tunnel Syndrome | Transthyretin Amyloidosis

Portugal
University of Coimbra

Completed

From Molecules to Cognition: Inhibitory Mechanisms in ASD and NF1 (ASD/NF1inhib)

Autism Spectrum Disorder | Neurofibromatosis 1

Portugal
Allergan

Completed

An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa

Retinitis Pigmentosa

France, United States, Germany, Portugal
University College London Hospitals

Unknown

Ripple Mapping for Epicardial Mapping of Brugada Syndrome

Brugada Syndrome

Brazil, Portugal, United Kingdom
Cosmetique Active International

Recruiting

Effect of Lipikar Baume AP+M on Quality of Life and Pain of Adults With Dryness or Severe Xerosis

Skin Diseases | Atopic Dermatitis

Croatia, Germany, Portugal, South Africa, Taiwan, Thailand, Vietnam
Inventiva Pharma

Completed

A Study in MPS VI to Assess Safety and Efficacy of Odiparcil (iMProveS)

Mucopolysaccharidosis VI

United Kingdom, France, Germany, Portugal
BioMarin Pharmaceutical

Completed

A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI

Mucopolysaccharidosis VI | Maroteaux-Lamy Syndrome

United States, Portugal, France
University of Cagliari

Unknown

Behçet's Disease Overall Damage Index (BODI)

Behçet Disease | Behcet's Disease Aggravated

Greece, Italy, Portugal, Spain, United Arab Emirates
Centre Hospitalier National d'Ophtalmologie des...
Institut National de la Santé Et de la Recherche Médicale, France

Unknown

Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe (EURUSH)

Usher Syndrome

France, Germany, Netherlands, Portugal
Universitaire Ziekenhuizen KU Leuven
KU Leuven; Vertex Pharmaceuticals Incorporated; University of Lisbon

Withdrawn

Organoid Study R334W

Cystic Fibrosis

Spain, Italy, France, Belgium, Portugal
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
BioCeryx
University of British Columbia; University College London Hospitals; Brugmann... and other collaborators

Unknown

Automated Screen for Fetal Aneuploidy (FAST1)

Trisomy 21 and Other Fetal Aneuploidy

Australia, United Kingdom, Spain, Canada, Belgium, Portugal
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
Shire Regenerative Medicine, Inc.

Terminated

A Study of the Efficacy and Safety of ABH001 in the Treatment of Patients With Epidermolysis Bullosa Who Have Wounds That Are Not Healing

Epidermolysis Bullosa

United States, Spain, Austria, Canada, France, Germany, Poland, Portugal
Alnylam Pharmaceuticals

Completed

The Study of an Investigational Drug, Revusiran (ALN-TTRSC), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Whose Disease Has Continued to Worsen Following Liver Transplant

ATTR Amyloidosis | Transthyretin (TTR)-Mediated Amyloidosis | Familial Amyloidotic Polyneuropathy (FAP) | Familial Amyloid Neuropathies

France, Germany, Portugal, United Kingdom, Sweden, Spain
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

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
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
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
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
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
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
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
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
Astellas Pharma Inc

Completed

Equivalence of the Response to Vaccination of Tacrolimus Ointment to a Steroid Ointment Regimen in Children With Atopic Dermatitis

Atopic Dermatitis

Australia, Belgium, Poland, Hungary, Portugal, Germany, Iceland, Malta
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
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
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
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
Shire

Terminated

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

Fabry Disease

Spain, Greece, Germany, Portugal, Canada, Finland, Poland, Sweden
Novo Nordisk A/S

Completed

Observational Study on Safety of Room Temperature Stable NovoSeven® in Patients With Haemophilia A or B

Congenital Bleeding Disorder | Haemophilia A | Haemophilia B

Belgium, Germany, France, United Kingdom, Italy, Hungary, Austria, Sweden, Iran, Islamic Republic of, Argentina, Ireland, Poland, Portugal, Slovakia
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
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, Switzerland, Austria, Netherlands, Portugal
Novo Nordisk A/S

Completed

Observational Registry of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With Inhibitors (ONE)

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Saudi Arabia, Algeria, Turkey, Germany, Poland, Netherlands, Italy, Belgium, South Africa, United Kingdom, Sweden, Austria, Portugal, France, Czech Republic, Venezuela
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
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
Ultragenyx Pharmaceutical Inc

Recruiting

Clinical Study of DTX301 AAV- Mediated Gene Transfer for Ornithine Transcarbamylase(OTC) Deficiency

OTC Deficiency

United States, Portugal, Australia, Italy, Spain, United Kingdom, Japan, Canada, Germany, France, Argentina, Netherlands, Brazil
PedNet Haemophilia Research Foundation
Lund University Hospital

Recruiting

The European Paediatric Network for Haemophilia Management ( PedNet Registry) (PedNet)

Factor IX Deficiency | Factor VIII Deficiency

Norway, Austria, Belgium, Canada, Czechia, Denmark, Finland, France, Germany, Greece, Ireland, Israel, Italy, Netherlands, Portugal, Spain, Sweden, Switzerland, United Kingdom
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
QED Therapeutics, Inc.

Recruiting

Prospective Clinical Assessment Study in Children With Hypochondroplasia (HCH)

Hypochondroplasia

United States, Australia, Norway, Portugal, Singapore, Spain
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
PTC Therapeutics
Cooperative International Neuromuscular Research Group; The John Walton Muscular...

Active, not recruiting

Registry of Translarna (Ataluren) in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

Muscular Dystrophy, Duchenne

Germany, France, United Kingdom, Brazil, Italy, Austria, Sweden, Czechia, Greece, Hungary, Israel, Latvia, Norway, Portugal, Romania, Slovenia
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

Clinical Trials on Genetic Pleomorphism in Portugal

Sponsors and Collaborators

Medical Conditions

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CROs by country

CROs in Madagascar

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