Clinical Trials on Genetic Diseases, Inborn in Portugal

Total 2745 results

Universidade do Porto
BioMarin Pharmaceutical; Centro Hospitalar do Porto

Completed

Nutritional Status in Phenylketonuria (TNSPKU)

Phenylketonurias

Portugal
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
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
Inventiva Pharma

Completed

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

Mucopolysaccharidosis VI

United Kingdom, France, Germany, 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
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 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
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
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
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
University College London Hospitals

Unknown

Ripple Mapping for Epicardial Mapping of Brugada Syndrome

Brugada Syndrome

Brazil, Portugal, United Kingdom
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
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
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
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
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
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
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
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
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
University of Coimbra

Completed

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

Autism Spectrum Disorder | Neurofibromatosis 1

Portugal
Shire

Terminated

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

Fabry Disease

Spain, Greece, Germany, Portugal, Canada, Finland, Poland, Sweden
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
Universitaire Ziekenhuizen KU Leuven
KU Leuven; Vertex Pharmaceuticals Incorporated; University of Lisbon

Withdrawn

Organoid Study R334W

Cystic Fibrosis

Spain, Italy, France, Belgium, 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
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
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
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
University of Cagliari

Unknown

Behçet's Disease Overall Damage Index (BODI)

Behçet Disease | Behcet's Disease Aggravated

Greece, Italy, Portugal, Spain, United Arab Emirates
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
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
CENTOGENE GmbH Rostock
Shire Human Genetic Therapies, Inc.

Completed

Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke Patients (sifap1)

Cerebrovascular Accident

Austria, Belgium, Croatia, Finland, France, Georgia, Germany, Ireland, Italy, Malta, Poland, Portugal, Spain, United Kingdom
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
BioMarin Pharmaceutical

Terminated

BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study)

Late-onset Pompe Disease

United States, United Kingdom, Germany, France, Italy, Portugal, Belgium, Netherlands
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
Ionis Pharmaceuticals, Inc.

Active, not recruiting

A Study of Olezarsen (Formerly Known as AKCEA-APOCIII-LRx) in Participants With Familial Chylomicronemia Syndrome (FCS)

Familial Chylomicronemia Syndrome

Spain, United Kingdom, France, Canada, United States, Italy, Netherlands, Norway, Portugal, Slovakia, Sweden
Ultragenyx Pharmaceutical Inc

Active, not recruiting

Study of UX701 Gene Transfer for the Treatment of Wilson Disease

Wilson Disease

United States, Canada, Spain, Portugal, United Kingdom
PTC Therapeutics

Recruiting

A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria

Phenylketonuria

United States, Germany, Spain, Australia, Brazil, United Kingdom, Denmark, Mexico, Portugal, Turkey, Canada, Georgia, Italy, Netherlands, Japan
Ultragenyx Pharmaceutical Inc
PRA Health Sciences

Recruiting

Mucopolysaccharidosis VII Disease Monitoring Program

Sly Syndrome | Mucopolysaccharidosis VII | MPS VII | MPS 7

United States, Germany, Brazil, Argentina, France, Netherlands, Portugal, Spain, Turkey
Idorsia Pharmaceuticals Ltd.

Completed

Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 (RETRIEVE)

GM2 Gangliosidosis | GM1 Gangliosidosis | Tay-Sachs Disease | Sandhoff Disease | Gaucher Disease, Type 2 | AB Variant Gangliosidosis GM2

United States, Spain, Germany, Italy, Belgium, Brazil, France, Portugal, Switzerland, United Kingdom
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
PTC Therapeutics

Completed

A Study of PTC923 in Participants With Phenylketonuria

Phenylketonuria

Spain, United States, Australia, Germany, United Kingdom, Brazil, Denmark, Canada, France, Georgia, Italy, Mexico, Netherlands, Portugal, Turkey
Amgen

Completed

Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Children With Inherited Elevated Low-density Lipoprotein Cholesterol (Familial Hypercholesterolemia) (HAUSER-OLE)

Familial Hypercholesterolemia

Canada, Italy, Norway, Belgium, United States, Turkey, Australia, Austria, South Africa, Poland, Switzerland, Spain, Portugal, Slovenia, Brazil, Russian Federation, Hungary, United Kingdom, Colombia, Czechia, Netherlands, Greece, Ma...
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
Swedish Orphan Biovitrum

Completed

Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care (OPAL)

Hereditary Tyrosinemia, Type I

Belgium, Denmark, France, Germany, Austria, Czechia, Finland, Hungary, Ireland, Italy, Netherlands, Norway, Poland, Portugal, Spain, Sweden, United Kingdom
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
BioMarin Pharmaceutical

Completed

A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)

MPS IV A

United States, Canada, France, United Kingdom, Taiwan, Argentina, Colombia, Japan, Saudi Arabia, Netherlands, Denmark, Korea, Republic of, Brazil, Germany, Portugal, Italy, Qatar
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

Clinical Trials on Genetic Diseases, Inborn in Portugal

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Angola

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations