Search clinical trials for: Genetic disease, inborn

Total 18671 results

IRCCS Fondazione Stella Maris
Azienda USL Toscana Nord Ovest; University of Dublin, Trinity College; Meyer...

Recruiting

Biomarkers in Rett Syndrome (BIRS)

Rett Syndrome

Italy, Ireland
John Paul II Hospital, Krakow

Recruiting

New Biomarkers and Plasma Prothrombotic Potential in Cardiac Transthyretin Amyloidosis

Transthyretin Amyloidosis

Poland
Pharvaris Netherlands B.V.

Recruiting

Study of Oral Deucrictibant Soft Capsule for On-Demand Treatment of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema (RAPIDe-3)

Hereditary Angioedema | Hereditary Angioedema Type I | Hereditary Angioedema Type II | Hereditary Angioedema Types I and II | Hereditary Angioedema Attack | Hereditary Angioedema With C1 Esterase Inhibitor Deficiency | Hereditary Angioedema - Type 1 | Hereditary Angioedema - Type 2 | C1 Esterase Inhibitor... and other conditions

United States, Puerto Rico
Corvus Pharmaceuticals, Inc.

Recruiting

Safety, Tolerability, and Preliminary Efficacy of Soquelitinib in Participants With Moderate to Severe AD

Atopic Dermatitis

United States
Children's Hospital Colorado
University of Colorado, Denver; University of Pennsylvania; University of Alabama... and other collaborators

Recruiting

The Diagnostic Experience of Male Rett Syndrome

Rett Syndrome | RTT

United States
Vertex Pharmaceuticals Incorporated

Recruiting

A Phase 1 Study to Evaluate Safety, Tolerability, and Pharmacokinetics (PK) of VX-407 in Healthy Participants

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

United States
Fondation Ophtalmologique Adolphe de Rothschild

Not yet recruiting

Functional Impairment in Albinism (PLAIB)

Albinism, Ocular
Huntington Study Group
Roche Products Limited

Recruiting

Project AWARE 2.0 to Improve Awareness, Willingness and Ability for Research and Enrollment in Clinical Research

Huntington Disease

United States
AstraZeneca

Recruiting

Transthyretin Amyloidosis Cardiomyopathy in Patients With HFpEF in Russia (TETRAMER)

Transthyretin Amyloidosis Cardiomyopathy, Heart Failure With Preserved Ejection Fraction

Russian Federation
University of Palermo

Recruiting

Can Gluten/Wheat or Other Foods be Responsible for FMF Attacks

Familial Mediterranean Fever | Non-celiac Gluten Sensitivity

Italy
Jirair Krikor Bedoyan
Ultragenyx Pharmaceutical Inc

Recruiting

Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

Pyruvate Dehydrogenase Complex Deficiency

United States
Centre Hospitalier Intercommunal Creteil

Not yet recruiting

Real World Environmental Exposure Study With Healthy and Cystic Fibrosis Subjects (ExpoCF)

Environmental Exposure | Cystic Fibrosis, Pulmonary | Exhaled Breath Condansate
Children's Hospital Medical Center, Cincinnati

Recruiting

Regional Monitoring of CF Lung Disease

Cystic Fibrosis

United States
Rett Syndrome Research Trust

Not yet recruiting

Validation of Innovative Biosensors for Rett Autonomic Symptom Tracking (VIBRANT)

Rett Syndrome

United States
Rigshospitalet, Denmark

Not yet recruiting

Evaluating the Efficacy and Safety of Large Neutral Amino Acids in the Treatment of Classical Phenylketonuria

Brain Diseases | Genetic Diseases, Inborn | Metabolism, Inborn Errors | Brain Diseases, Metabolic | Phenylketonurias | Brain Diseases, Metabolic, Inborn | Amino Acid Metabolism, Inborn Errors | Metabolic Disease

Denmark
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Randomized Controlled Trial in Patients on Long-term Colchicine With Colchicine-resistant Familial Mediterranean Fever (FMF) to Evaluate the Efficacy of On-demand Anakinra Treatment for Painful Attacks in Patients Who Refuse Continuous Daily Therapy (KIN-ATTACK-FMF)

FMF

France
IRCCS Eugenio Medea

Recruiting

Study of the Prevalence of Autistic Traits in Angelman Syndrome

Angelman Syndrome

Italy
IRCCS San Raffaele

Recruiting

Characterization of DupEx2 Duchenne Muscular Dystrophy (DMDDup2)

Muscular Dystrophy, Duchenne

Italy
GCS Ramsay Santé pour l'Enseignement et la Recherche

Not yet recruiting

Evaluation of the Effects of Cross Linking on the Biomechanical Characteristics of Skin Samples From Patients With Classic or Hypermobile Ehlers-Danlos Syndrome (SEDSKIN)

Ehlers-Danlos Syndrome

France
Medical University of Vienna
University of Vienna; Griffith University

Recruiting

Brown Adipose Tissue Activity in Gilbert's Syndrome

Gilbert Syndrome

Austria
Centre Hospitalier Sud Francilien

Not yet recruiting

Infectious and Non-infectious Lower Respiratory Diseases in Children With Down Syndrome Followed in Pediatric Pulmonology Consultations in Ile-de-France (ARBT21)

Down Syndrome

France
Craig Erickson
Healx Limited

Recruiting

Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS)

Fragile X Syndrome

United States
Taumedika s.r.l.
Nextrasearch S.r.l.s.

Not yet recruiting

Pre-marketing Clinical Trial to Evaluate the Safety and Efficacy of the Filler of Hyaluronic Acid Recombinant Collagen

Scar | Laxity; Skin | Wrinkle
Sofwave Medical LTD

Recruiting

Treatment to Lift Facial Lax Skin and Improve Facial Wrinkles Using Precise and Lift Applicators

Lax Skin

United States
NGGT (Suzhou) Biotechnology Co., Ltd.

Not yet recruiting

AAV Gene Therapy Clinical Study in Adult Classic PKU

Phenylketonurias
Lundquist Institute for Biomedical Innovation at...

Not yet recruiting

Study of Cannabidiol in Sanfilippo Syndrome

Mucopolysaccharidosis III | Sanfilippo Syndrome

United States
Maastricht University Medical Center

Recruiting

Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling

Quality of Life | Tuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Birt-Hogg-Dube Syndrome | Palmoplantar Keratoses

Netherlands
Hospital do Coracao
University of Sao Paulo; Instituto Dante Pazzanese de Cardiologia; National Institute...

Not yet recruiting

An Adapted Brazilian Cardioprotective Diet, Phytosterols and Krill Oil in Familial Hypercholesterolemia (DICA-FH) (DICA-FH)

Familial Hypercholesterolemia
Masaryk Memorial Cancer Institute
Masaryk University

Recruiting

Pancreatic Cancer Screening in a Population at High Risk (ScrePan)

Pancreatic Ductal Adenocarcinoma | Pancreatitis, Chronic | Hereditary Diseases

Czechia
University Hospital, Strasbourg, France

Not yet recruiting

Effect of One Year Elexacaftor-tezacaftor-ivacaftor Treatment (DIATRIM)

Cystic Fibrosis
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
Tampere University
Professor Lauri Lehtimäki; Professor Mika Mäkelä; Professor Sanna Toppila-Salmi; Professor Ilkka Junttila

Not yet recruiting

Allergy, Asthma, and Atopic Eczema in Finland (FinnATOPY)

Asthma | Allergy | Rhinitis, Allergic | Asthma in Children | Atopic Dermatitis | Allergen Immunotherapy

Finland
ENCell

Recruiting

Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A

Charcot-Marie-Tooth Disease Type 1A

Korea, Republic of
Chiesi Farmaceutici S.p.A.
ICON plc

Not yet recruiting

A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease (FLY)

Fabry Disease
Pole Sante Grace de Dieu

Recruiting

Improving the Well-being of Caregivers of Cystic Fibrosis Patients During Physiotherapy Treatment (MucoZar)

Cystic Fibrosis

France
ENCell

Not yet recruiting

Evaluate the Efficacy and Safety of EN001 in Patients With Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Korea, Republic of
University Health Network, Toronto

Not yet recruiting

RCT of Gut-directed Hypnotherapy in Ehlers-Danlos Syndromes and Generalized Hypermobility Spectrum Disorders

Irritable Bowel Syndrome | Gastrointestinal Dysfunction | Ehlers-Danlos Syndrome | Hypermobility Syndrome

Canada
Ohio State University

Recruiting

Well-Formulated Ketogenic Diet Polycystic Kidney Disease

Polycystic Kidney Disease

United States
Caroline Michaela Kistorp
Sanofi

Not yet recruiting

Fibrosis, Inflammation, Oxygenation of Renal Tissue In FabrY Disease (FORTIFY)

Chronic Kidney Diseases | Fabry Disease

Denmark
National Institute of Allergy and Infectious Diseases...

Recruiting

Base Editing for Mutation Repair in Hematopoietic Stem & Progenitor Cells for X-Linked Chronic Granulomatous Disease

Chronic Granulomatous Disease (CGD) | X-Linked Chronic Granulomatous Disease

United States
Sunshine Guojian Pharmaceutical (Shanghai) Co.,...

Not yet recruiting

Evaluation of 611 in Chinese Children and Adolescents With Moderate to Severe Atopic Dermatitis

Dermatitis, Atopic
University of Aarhus
Aarhus University Hospital

Recruiting

Lymphedema, Low-grade Inflammation and the Vasculature in Turner Syndrome (TSCOR_V)

Cardiovascular Diseases | Inflammation | Lymphedema | Turner Syndrome

Denmark
The University of Queensland

Not yet recruiting

Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside (ATNAD)

Ataxia Telangiectasia

Australia
University Hospital Tuebingen

Recruiting

Natural History Study in Patients With PDE6A-, PDE6B- and RHO-linked Retinitis Pigmentosa

Retinitis Pigmentosa

Germany
Universidad Politecnica de Madrid
Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Hospital Universitario... and other collaborators

Recruiting

Exercise in People With Cystic Fibrosis on CFTR Modulator Therapy (FIQMODE)

Cystic Fibrosis

Spain
Blueskin AS

Recruiting

A Pilot Cohort Study of Risk Factors and Novel Methods of Skin Lesion Assessments in Adults With Atopic Dermatitis, Alopecia Areata, Psoriasis or Vitiligo (Derma-001)

Psoriasis | Atopic Dermatitis | Vitiligo | Alopecia Areata

Denmark
University of Rochester

Not yet recruiting

The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration

Age-Related Macular Degeneration | Retinitis Pigmentosa | Retinal Dystrophies | Alcohol Use Disorder | Stargardt Disease

United States
Kathelijn Fischer
Radboud University Medical Center; University Medical Center Groningen; Maastricht... and other collaborators

Recruiting

Pharmacokinetic-guided Dosing of Emicizumab (DosEmi)

Adolescent | Child | Hemophilia A With Inhibitor | Adult | Hemophilia A Without Inhibitor | Hemophilia A, Severe

Netherlands
New York University

Not yet recruiting

mAnaging siCkle CELl disEase Through incReased AdopTion of hydroxyurEa in Nigeria (ACCELERATE)

Sickle Cell Disease
Oman Medical Speciality Board
Armed Forces Hospital, Oman

Not yet recruiting

Analgesic Effect of Parecoxib Versus Morphine in SCD Patients Presenting to the Emergency Department (PASC)

Sickle-Cell Disease With Crisis

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