Search clinical trials for: Congenital Disorders of Deglycosylation

Total 444030 results

Icahn School of Medicine at Mount Sinai
Mayo Clinic; Baylor College of Medicine; Children's Hospital of Philadelphia; University... and other collaborators

Recruiting

Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

Congenital Disorders of Glycosylation

United States
Istituto Ortopedico Rizzoli
Istituto Clinico Humanitas; Istituto Giannina Gaslini; Ospedale Pediatrico Bambino... and other collaborators

Not yet recruiting

Advanced Surgical Simulation Processes in the Correction of Skeletal Defects and Deformities (SIMULA)

Musculoskeletal Abnormalities | Musculoskeletal Disorder | Musculoskeletal Deformity

Italy
University Ghent
Research Foundation Flanders

Not yet recruiting

Effect and Cost-utility of of High Intensity vs. Low Intensity Speech Intervention in Children With Cleft Palate

Cleft Lip and Palate | Cleft Palate Children | Speech Therapy | Speech Disorders in Children
Regeneron Pharmaceuticals
Intellia Therapeutics

Not yet recruiting

A Trial to Learn if REGV131-LNP1265 is Safe and Works to Help the Body Make Clotting Factor in Pediatric, Adolescent and Adult Patients With Hemophilia B (BEYOND-9)

Hemophilia B
IRCCS Eugenio Medea

Recruiting

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

Myotonic Dystrophy 1

Italy
University College, London
Washington University School of Medicine; University of Washington; Alzheimer... and other collaborators

Not yet recruiting

A Trial Evaluating the Effect of NIO752 on Tau Synthesis Measured by a Process Known as SILK (NIO-SILK)

Alzheimer Disease | Autosomal Dominant Alzheimer Disease Due to Mutation of Presenilin 1 (Disorder) | Autosomal Dominant Alzheimer Disease Due to Mutation of Presenilin 2 (Disorder) | Autosomal Dominant Alzheimer Disease Due to Mutation of Amyloid Precursor Protein (Disorder)
Lawson Health Research Institute
Greenstone Biosciences, Inc.

Not yet recruiting

iPSC Biobank of Biomarkers Diversity in Cardiovascular Disease (INFERENCE)

Cardiovascular Diseases | Heart Failure | Cardiomyopathies | Congenital Heart Disease | Cerebrovascular Accident | Arrythmia | Cardiometabolic Syndrome
Harmony Biosciences, LLC

Recruiting

A Study of Pitolisant in Patients With Prader-Willi Syndrome

Prader-Willi Syndrome

United States
Dan Bing

Not yet recruiting

Genetic Feature of Congenital Hearing Loss in Chinese Population

Congenital Hearing Loss | Congenital Deafness
IRCCS Eugenio Medea

Recruiting

Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy

Epilepsy | Angelman Syndrome | Dup15q Syndrome

Italy
Institut de Myologie, France
Association Française contre les Myopathies (AFM), Paris

Not yet recruiting

Natural History Study of Children With LAMA2-related Dystrophies (LAMA2)

Merosin Deficient Congenital Muscular Dystrophy

France
Hasan Kalyoncu University

Recruiting

Effects of Orofacial Therapy and Therapeutic Yoga in Children With Down Syndrome

Down Syndrome

Turkey
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Comparative Health Status and Quality of Life of Patients With Sickle Cell Disease (SCD) Who Underwent Matched-sibling Hematopoietic Stem Cell Transplantation Versus Non Transplanted SCD Case-control Patients (TRANSPLANTORN2)

Sickle Cell Disease
Karamanoğlu Mehmetbey University

Recruiting

Physical Activity in Children With Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Syndrome

Turkey
Hans Bahlmann
Linkoeping University

Recruiting

Spinal Morphine or Intravenous Lidocaine in Robot-assisted Upper Urologic Surgery (SMILe)

Renal Cancer | Ureter Cancer | Other Specified Disorders of Kidney and Ureter | Benign Neoplasm of Ureter | Calculus of Kidney and Ureter | Ureteric Reflux | Congenital Ureteric Anomaly | Benign Renal Neoplasm

Sweden
Fondazione IRCCS Ca' Granda, Ospedale Maggiore...
Federico II University; Istituto Auxologico Italiano; Università degli Studi...

Recruiting

Maternal Genes and Epimutations: Beckwith-Wiedemann Syndrome & Reproductive Risks

Beckwith-Wiedemann Syndrome

Italy
Cairo University

Not yet recruiting

Association Between Molar Incisor Hypomineralization And Type I Diabetes Milletus. (MIH and TIDM)

Molar Incisor Hypomineralization
Assistance Publique - Hôpitaux de Paris

Recruiting

Relationship Between Breathing and Attention in Children With Ondine Syndrome (OndineCo)

Ondine Syndrome | Congenital Central Hypoventilation Syndrome (CCHS)

France
IRCCS Eugenio Medea

Recruiting

Study of the Prevalence of Autistic Traits in Angelman Syndrome

Angelman Syndrome

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
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
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
Siriraj Hospital

Not yet recruiting

Disease Characteristics and Treatment Response in Plasma Cell Disorders Patients Based on Genetic Abnormalities From Fluorescence In Situ Hybridization and Next Generation Sequencing (genetics MM)

Plasma Cell Disorder
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
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
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
Bark Technology LLP

Recruiting

Evaluation of the Effectiveness and Safety of Vibro-acoustic Pulmonary Therapy (VAPT) in Complex Therapy for Acute Respiratory Failure of Mixed Type I-II Stages in Comparison With Percussion Massage in Cardiac Surgical Patients in the Early Postoperative Period

Cardiac Surgical Patients (CABG,Mammary Coronary Bypass Surgery,Plastic and Replacement of Valves, Atrial Septal Defect,Ventricular Septal Defect)

Kazakhstan
Hacettepe University

Not yet recruiting

Muscle Architecture in Knee Osteoarthritis

Knee Osteoarthritis | Muscle Weakness | Foot Deformities | Kinesiophobia
Qilu Hospital of Shandong University

Recruiting

Clemastine Fumarate in the Treatment of Neurodevelopmental Delays in Williams Syndrome

Child | Williams Syndrome | Neurodevelopmental Delay

China
University of California, Los Angeles

Recruiting

Remote Assessment and Intervention for Behavior Problems in Kids With TSC (RAINBOW)

Tuberous Sclerosis

United States
Inozyme Pharma
GACI Global

Not yet recruiting

PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency

ATP-Binding Cassette Subfamily C Member 6 Deficiency | Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency
Universitas Sumatera Utara

Not yet recruiting

The Role of Thiamine After Transcatheter Closure in Children With Left-to-Right Shunt Congenital Heart Disease

Atrial Septal Defect | Congenital Heart Disease | Patent Ductus Arteriosus | Ventricular Septal Defect | Thiamine Deficiency

Indonesia
John Elfar

Not yet recruiting

4AP to Delay Carpal Tunnel Release (CTR) (CTR)

Carpal Tunnel Syndrome | Compression Neuropathy
Lise Aksglæde

Not yet recruiting

Klinefelter Syndrome and Testosterone Treatment in Puberty (TiPY)

Klinefelter Syndrome
Istituto Auxologico Italiano

Recruiting

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

Prader-Willi Syndrome

Italy
IRCCS Fondazione Stella Maris

Recruiting

Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome

Fragile X Syndrome

Italy
IRCCS Fondazione Stella Maris
Fondazione Policlinico Universitario Agostino Gemelli IRCCS; Fondazione I.R... and other collaborators

Recruiting

Assessment and Telerehabilitation of Cognitive and Motor Skills in Children With Neurodevelopmental Disabilities (Tablet Project)

Neurodevelopmental Cognitive, Motor and Speech-language Disabilities

Italy
National Institute of Nursing Research (NINR)

Not yet recruiting

A Natural History Study of RYR1-Related Disorders

Ryanodine Receptor 1-Related Myopathy | Ryanodine Receptor 1 Related Disorders

United States
University of Castilla-La Mancha

Recruiting

Effect of Rhythmic Gymnastics Training in Children With Down Syndrome

Physical Conditioning, Human

Spain
Specila hospital for cerebral palsy and developmental...
FRAXA Research Foundation

Recruiting

Probiotic Intervention for Microbiome Modifications and Clinical Improvements in Fragile X Syndrome

Fragile X Syndrome

Serbia
Perha Pharmaceuticals
Göteborg University; Proteas Bioanalytics

Recruiting

Phosphoproteomic Profile of Children With Down Syndrome (PEPS)

Down Syndrome

France
University Hospital, Toulouse

Not yet recruiting

Adolescent Projections During Transition in Prader-Willi Syndrome (APT-WILL)

Prader-Willi Syndrome

France
Queen Fabiola Children's University Hospital

Recruiting

Iron Deficiency in Pediatric Heart Surgery

Iron Deficiency Anemia | Congenital Heart Disease in Children | Cardiac Surgical Procedures | Iron Deficiencies

Belgium
Fondation Ophtalmologique Adolphe de Rothschild

Not yet recruiting

Efficacy and Safety of Anti-angiogenic Therapy With IV Bevacizumab in Patients With Symptomatic Cerebral Arteriovenous Malformations (BevacizuMAV)

Cerebral AV Malformation
Erasmus Medical Center

Not yet recruiting

Learning by Heart: The Effectiveness of an EF Training Program for Pre-schoolers With a Severe CHD (LbH)

Congenital Heart Disease | Executive Dysfunction | Attention Disorder

Netherlands
Tashkent Pediatric Medical Institute

Recruiting

Development of Methods for Effective Treatment and Improvement of Common Somatic Diseases in Children

Congenital Heart Defects | Respiratory Diseases

Uzbekistan
Radboud University Medical Center

Recruiting

Lymphatic Phenotype in Noonan Syndrome Spectrum Disorders (LENS)

Lymphatic Diseases | Noonan Syndrome | Lymphatic Disease | Lymphatic System Disorders Congenital

Netherlands
Hospices Civils de Lyon

Not yet recruiting

Maxillofacial Rehabilitation Using Motor Imagery vs Sham After Orthognathic Surgery (MAXIMAND)

Maxillofacial Abnormalities

France
IRCCS National Neurological Institute "C. Mondino...

Recruiting

Sleep Profile of Patients With Septo-optic Dysplasia

Blindness | Agenesis of Corpus Callosum | Septo-Optic Dysplasia

Italy

Search clinical trials for: Congenital Disorders of Deglycosylation

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