Clinical Trials on Genetic Variation in Italy

Total 1242 results

Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

Prevalence and Characterization of Pain in RASopathies (3717)

Noonan Syndrome | Costello Syndrome | RASopathy | Cardio-Facio-Cutaneous Syndrome

Italy
Shire

Completed

Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) (FAST2)

Hereditary Angioedema

Italy
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies (3776)

Noonan Syndrome | Costello Syndrome | RASopathy | Cardio-Facio-Cutaneous Syndrome

Italy
Piazza della Vittoria 14 Studio Medico - Ginecologia...

Not yet recruiting

Perception About Benefits and Risks Related to Combined Hormonal Contraceptives Use in Patients With Lynch Syndrome

Lynch Syndrome | Contraception

Italy
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

Solid Tumors in RASopathies (4218)

Noonan Syndrome | Costello Syndrome | RASopathy | Cardio-Facio-Cutaneous Syndrome

Italy
Fondazione I.R.C.C.S. Istituto Neurologico Carlo...
Istituto Di Ricerche Farmacologiche Mario Negri

Recruiting

Clinical Study to Monitor Plasma Levels of 24OHC in Subject With HD (Chol-HD)

Huntington Disease

Italy
Istituti Clinici Scientifici Maugeri SpA

Completed

Autonomic Nervous System Profile in Hereditary Angioedema (ANS-HAE)

Hereditary Angioedema

Italy
Genzyme, a Sanofi Company
BioMarin/Genzyme LLC

Terminated

A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants

Mucopolysaccharidosis I | Hurler's Syndrome | Hurler-Scheie Syndrome | Scheie

Italy
IRCCS Eugenio Medea

Recruiting

Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation [MDCJ-NeuBeRe] (MDCJ-NeuBeRe)

Myotonic Dystrophy 1

Italy
IRCCS Eugenio Medea
National Research Council of Italy - IPCB; Orthopedic Center "Biomedica Su... and other collaborators

Completed

Experimental Evaluation of Back Braces for the Treatment of Spinal Deformity Produced With 3D Printing Technology

Osteogenesis Imperfecta | Adolescent Idiopathic Scoliosis

Italy
Edimer Pharmaceuticals

Completed

Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) (ECP-002)

X-Linked Hypohidrotic Ectodermal Dysplasia

United States, United Kingdom, France, Germany, Italy
Istituto Auxologico Italiano

Recruiting

Evaluation of the Psychological Profile of Adult Patients With Prader-Willi Syndrome (PROPSICOPWS)

Prader-Willi Syndrome

Italy
Azienda Ospedaliero-Universitaria di Modena

Recruiting

"Iron Overload and Endocrinological Diseases"

Iron Overload | Hemochromatosis | Thalassemia Major | Thalassemia Intermedia | Endocrinopathy

Italy
University Of Perugia

Recruiting

Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity

Obesity | Ketosis | Lysosomal Acid Lipase Deficiency | Ketogenic Dieting

Italy
Mario Negri Institute for Pharmacological Research
Otsuka Pharmaceutical Italy S.r.l.

Completed

Tolvaptan-Octreotide LAR Combination in ADPKD (TOOL)

Autosomal Dominant Polycystic Kidney Disease

Italy
EspeRare Foundation
Iqvia Pty Ltd; Pierre Fabre Medicament

Recruiting

Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia (EDELIFE)

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

United States, Spain, France, Germany, Italy, United Kingdom
Edimer Pharmaceuticals

Completed

Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia (ECP-015)

X-Linked Hypohidrotic Ectodermal Dysplasia

United States, United Kingdom, France, Germany, Italy
Edimer Pharmaceuticals

Active, not recruiting

Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 (ECP-002e)

X-linked Hypohidrotic Ectodermal Dysplasia

United States, United Kingdom, France, Germany, Italy
Istituto Ortopedico Rizzoli

Completed

Height, Ulnar Length and Forearm Function in Multiple Hereditary Exostoses

Exostoses, Multiple Hereditary

Italy
Fondazione I.R.C.C.S. Istituto Neurologico Carlo...
Ministry of Health, Italy

Completed

Subthalamic Stimulation in Tourette's Syndrome (STN-DBSinTS)

Tourette Syndrome | Tourette's Syndrome | Tourette Disorder | Gilles de la Tourette Syndrome

Italy
Catholic University of the Sacred Heart
Fondazione Telethon

Unknown

RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy

Myotonic Dystrophy | Sudden Cardiac Death

Italy
University of Pavia

Enrolling by invitation

Clinical Comparison of a Postbiotic-gel With Placebo Gel for Gingival Inflammation in Patients With Down Syndrome

Down Syndrome | Gingival Bleeding

Italy
University of Bari

Completed

Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease (IRICDE)

Charcot-Marie-Tooth Disease

Italy
Azienda USL Modena

Completed

Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome

Klinefelter Syndrome | Steroidogenesis | Human Chorionic Gonadotropin (hCG) Stimulation

Italy
GWT-TUD GmbH

Completed

Facilitated Immunoglobulin Administration Registry and Outcomes Study (FIGARO) (FIGARO)

Primary Immunodeficiency | Secondary Immune Deficiency

Germany, Italy, France
Istituto Auxologico Italiano

Completed

Characterization of Serum Proteome in Subjects With Prader Willi Syndrome (PROTEOMARKER) (PROTEOMARKER)

Prader-Willi Syndrome

Italy
Antonio Persico
University of Bari; Associazione Italiana Sindrome di Phelan-McDermid (AISPHEM)

Enrolling by invitation

Q10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome. (Q10ASD)

Autism Spectrum Disorder | Phelan-McDermid Syndrome

Italy
Ospedale Microcitemico
Azienda Sanitaria Locale di Cagliari

Completed

Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major (DFODFPTM)

Iron Overload | Cardiomyopathy

Italy
Gruppo Oncologico del Nord-Ovest

Recruiting

TremelImumab aNd Durvalumab For the Non-operatIve Management (NOM) of MSI-high Resectable GC/GEJC. (INFINITY)

Gastric Cancer | Microsatellite Instability

Italy
Istituto Ortopedico Galeazzi

Terminated

Gilles de la Tourette Syndrome (TS) and Seasonality

Tourette Syndrome

Italy
Great Ormond Street Hospital for Children NHS Foundation...
Catholic University of the Sacred Heart; Università degli Studi di Ferrara; Universidad... and other collaborators

Recruiting

Brain Involvement in Dystrophinopathies Part 2

Duchenne Muscular Dystrophy | Becker Muscular Dystrophy

Denmark, France, Italy, Spain, United Kingdom, Netherlands
Istituto di Fisiologia Clinica CNR
Azienda Ospedaliero, Universitaria Pisana; Azienda USL Toscana Nord Ovest; Azienda... and other collaborators

Not yet recruiting

Brugada Syndrome and Artificial Intelligence Applications to Diagnosis (BrAID)

Brugada Syndrome 1

Italy
Cooperative International Neuromuscular Research...
Washington University School of Medicine; Children's National Research Institute and other collaborators

Completed

Comparative Study of Clinical Endpoint in DMD: Handheld Myometry (HHM) Versus CINRG Quantitative Measurement System (CQMS)

Duchenne Muscular Dystrophy

United States, Australia, Italy
Chiesi Italia

Completed

Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease (GROUND)

Fabry Disease

Italy
S. Andrea Hospital

Completed

Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia

Multiple Sclerosis | Cerebellar Ataxia | Hereditary Ataxia

Italy
NS Pharma, Inc.
Nippon Shinyaku Co., Ltd.

Completed

Study to Assess the Safety, Tolerability, and Efficacy of Viltolarsen in Ambulant and Non-Ambulant Boys With DMD (Galactic53)

Duchenne Muscular Dystrophy

Spain, United States, Russian Federation, Italy, China, Turkey
Novartis Pharmaceuticals

Completed

Efficacy and Safety Study of ACZ885 in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS).

TNF-receptor Associated Periodic Syndromes (TRAPS)

United Kingdom, Ireland, Italy
Università degli Studi di Ferrara
Azienda Ospedaliero, Universitaria Pisana; Rare Partners srl Impresa Sociale; Azienda Ospedaliero, Universitaria Meyer

Recruiting

Testing SIROLIMUS in Beta-thalassemia Transfusion Dependent Patients (THALA-RAP) (THALA-RAP)

Beta-Thalassemia

Italy
Federico II University

Completed

Probiotics in Cystic Fibrosis

Cystic Fibrosis

Italy
Orchard Therapeutics
Ospedale San Raffaele

Active, not recruiting

OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)

Lysosomal Storage Diseases | Metachromatic Leukodystrophy

Italy
University Hospital, Catania

Unknown

Hereditary AngioEdema, Neurobiology and Psychopathology (HAENP)

Depression | Anxiety | Hereditary AngioEdema

Italy
Istituti Clinici Scientifici Maugeri SpA

Completed

Social Evaluated Cold Pressor Test in Hereditary Angioedema Patients (FROSEN)

Hereditary Angioedema

Italy
Fondazione IRCCS Istituto Nazionale dei Tumori,...

Completed

Preventive Anti-inflammatory Diet to Reduce Gastro-intestinal Inflammation in FAP Patients: a Prospective Pilot Study (FAPPER)

Familial Adenomatous Polyposis (FAP)

Italy
IRCCS Policlinico S. Matteo
Merck Sharp & Dohme LLC; Menarini Group

Unknown

Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients (MaNeLo)

Marfan Syndrome

Italy
Sanofi

Completed

A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting (HomERT)

Pompe Disease | Mucopolysaccharidosis Type I (MPS I)

Italy
Ospedale San Raffaele
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Recruiting

Identification of New Biological Markers for the Progression of Mycobacterium Abscessus-induced Lung Disease in Cystic Fibrosis (BioMol-MA)

Non-Tuberculous Mycobacterial Pneumonia | Cystic Fibrosis Lung

Italy
Mario Negri Institute for Pharmacological Research

Recruiting

Outcome of ADPKD With Octreotide LAR (ADPKD648)

Autosomal Dominant Polycystic Kidney

Italy
University of Roma La Sapienza
Alexion Pharmaceuticals

Recruiting

Lysosomal Acid Lipase Activity in Nonalcoholic Fatty Liver Disease (NAFLD LAL)

Non-Alcoholic Fatty Liver Disease

Italy
PerkinElmer, Wallac Oy
Azienda Ospedaliera Città della Salute e della Scienza di Torino

Unknown

Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13)

Trisomy 21 | Trisomy 18 | Trisomy 13

Italy
DePuy International

Completed

Postmarketing Study to Determine Performance of the SIGMA HP® PARTIAL KNEE SYSTEM

Osteoarthritis | Post-traumatic Arthritis | Gout | Pseudo-gout

Switzerland, Italy

Clinical Trials on Genetic Variation in Italy

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Gabon

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations