Search clinical trials for: chromosome 1q21.1

Total 2677 results

Simons Searchlight
Boston Children's Hospital; Geisinger Clinic; Simons Foundation

Recruiting

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

SMARCA4 Gene Mutation | DDX3X | 16P11.2 Deletion Syndrome | 16p11.2 Duplications | 1Q21.1 Deletion | 1Q21.1 Microduplication Syndrome (Disorder) | ACTL6B | ADNP | AHDC1 | ANK2 | ANKRD11 | ARID1B | ASH1L | BCL11A | CHAMP1 | CHD2 | CHD8 | CSNK2A1 | CTBP1 | CTNNB1 Gene Mutation | CUL3 | DNMT3A | DSCAM | DYRK1A | FOXP1 | GRIN2A | GRIN2B | HIVEP2-Related Intellectual... and other conditions

United States
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

Rehabilitation in Muscular Dystrophies From the Hospital Facility to the Home: Pilot Project [RIMUDI] (RIMUDI)

Muscular Dystrophies | Becker Muscular Dystrophy | Limb Girdle Muscular Dystrophy | Facio-Scapulo-Humeral Dystrophy

Italy
University of Colorado, Denver
Children's Hospital Colorado

Recruiting

Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY) (GALAXY)

Sex Chromosome Aneuploidy

United States
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

phenotypeS in Non Ambulant Duchenne Muscular Dystrophy (GUP21003)

Duchenne Muscular Dystrophy | Natural History | Motor Function; Retardation

Italy
Harmony Biosciences, LLC

Recruiting

A Study of Pitolisant in Patients With Prader-Willi Syndrome

Prader-Willi Syndrome

United States
University of Malaga

Not yet recruiting

Effectiveness of 5-week Digital Respiratory Practice in a Group of Children With Duchenne Muscular Dystrophy and Becker Muscular Dystrophy. (DMDrespy2024)

Muscular Dystrophy | Duchenne Muscular Dystrophy | Becker Muscular Dystrophy

Spain
Seoul National University Hospital

Not yet recruiting

The Effect of a Muscle-mimicking, Fabric-type Shoulder Orthosis on Functional Movements of the Upper Limb in Patients With Duchenne Muscular Dystrophy

Muscular Dystrophy, Duchenne | Upper Extremity | Orthotic Devices

Korea, Republic of
Rigshospitalet, Denmark

Not yet recruiting

Preimplantation Genetic Testing for Aneuploidy (PGT-A) in Women Aged 37-41 Years

Infertility

Denmark
IRCCS Eugenio Medea

Recruiting

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

Epilepsy | Angelman Syndrome | Dup15q Syndrome

Italy
Hasan Kalyoncu University

Recruiting

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

Down Syndrome

Turkey
Equilibra Bioscience LLC

Recruiting

A Study of Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SR604 in Two Participants Groups (Part A: Healthy Participants, and Part B: Participants With Hemophilia A or Hemophilia B)

Hemophilia A | Hemophilia B | Healthy Participants

United States
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
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
West China Hospital

Recruiting

Safety and Efficacy of a Single Subretinal Injection of JWK002 Gene Therapy in Subjects With X-linked Retinoschisis(XLRS)

X Linked Retinoschisis

China
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
Jirair Krikor Bedoyan
Ultragenyx Pharmaceutical Inc

Recruiting

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

Pyruvate Dehydrogenase Complex Deficiency

United States
Rett Syndrome Research Trust

Not yet recruiting

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

Rett Syndrome

United States
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
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
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
ENCell

Not yet recruiting

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

Duchenne Muscular Dystrophy

Korea, Republic of
Meyer Children's Hospital IRCCS

Recruiting

The Role of Renal Progenitors and Polyploid Tubular Cell Response in Glomerular and Tubular Diseases

Nephropathy

Italy
Caroline Michaela Kistorp
Sanofi

Not yet recruiting

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

Chronic Kidney Diseases | Fabry Disease

Denmark
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
Qilu Hospital of Shandong University

Recruiting

Clemastine Fumarate in the Treatment of Neurodevelopmental Delays in Williams Syndrome

Child | Williams Syndrome | Neurodevelopmental Delay

China
Suzhou Alphamab Co., Ltd.

Recruiting

Efficacy and Safety of KN057 Prophylaxis in Patients With Haemophilia A or B With Inhibitors

Hemophilia A With Inhibitor | Hemophilia B With Inhibitor

China
Erasmus Medical Center

Not yet recruiting

Detection of Aneuploidy in Cell Free DNA to Improve the Sensitivity of Diagnostic Peritoneal Lavage in Gastric Cancer

Gastric Cancer

Netherlands
M.D. Anderson Cancer Center
Novartis Pharmaceuticals

Not yet recruiting

Phase II Study of the Combination of Blinatumomab and Asciminib in Patients With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia

Acute Lymphoblastic Leukemia | Philadelphia Chromosome-Positive

United States
Institute of Hematology & Blood Diseases Hospital...

Recruiting

Detecting Minimal Residual Diseases (MRD) and Monitoring Clonal Evolution Using Ultrasensitive Chromosomal Aberrations Detection (UCAD) in Multiple Myeloma

Multiple Myeloma
Pfizer

Not yet recruiting

A Study to Learn About the Study Medicine Bosulif in Adult Patients With Chronic Myeloid Leukemia(CML).

Chronic Leukemia Myelogenous
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

Recruiting

Optical Imaging as a Tool for Monitoring Brain Function in Creatine Deficiency Syndromes

Creatine Deficiency, X-linked | Creatine Deficiency Syndrome Due to Gamt Deficiency

Italy
University of Pavia

Not yet recruiting

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

Down Syndrome | Gingival Bleeding

Italy
University of Florida
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Not yet recruiting

Vasodilator and Exercise Study for DMD (VASO-REx)

Muscular Dystrophy | Exercise | Duchenne Muscular Dystrophy | Vasodilation | DMD | Muscular Dystrophy in Children | Duchenne Disease
Memorial Sloan Kettering Cancer Center

Recruiting

A Study of 19-28z/IL-18 in People With Acute Lymphoblastic Leukemia (ALL)

Refractory Acute Lymphoblastic Leukemia | Philadelphia-Negative ALL | Philadelphia-Positive ALL | Refractory Acute Lymphoblastic Leukemia (ALL) | Relapsed ALL, Adult | Refractory Acute Lymphoid Leukemia in Relapse

United States
InnoVec Biotherapeutics Inc.
Peking Union Medical College Hospital

Not yet recruiting

Safety and Efficacy Study of IVB102 Injection in Subjects With X-linked Retinoschisis

Eye Diseases | Retinal Degeneration | Retinal Disease | Retinoschisis

China
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
BioMarin Pharmaceutical

Recruiting

A Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Participants With Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Spain, United Kingdom
University Hospital, Toulouse

Not yet recruiting

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

Prader-Willi Syndrome

France
UniQure Biopharma B.V.

Not yet recruiting

Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease

Fabry Disease
Sarepta Therapeutics, Inc.

Recruiting

An Observational Study Comparing Delandistrogene Moxeparvovec With Standard of Care in Participants With Duchenne Muscular Dystrophy (ENDURE)

Duchenne Muscular Dystrophy

United States
Université de Sherbrooke
Canadian Institutes of Health Research (CIHR); Centre de recherche du Centre... and other collaborators

Not yet recruiting

Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals With Fragile-X Syndrome (CANAX)

Fragile X Syndrome
Université de Sherbrooke
Canadian Institutes of Health Research (CIHR); Centre de recherche du Centre... and other collaborators

Not yet recruiting

Effect of CBD on the Brain

Fragile X Syndrome

Search clinical trials for: chromosome 1q21.1

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