Clinical Trials on Abnormalities, Multiple

Total 33603 results

National Human Genome Research Institute (NHGRI)

Completed

The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition

Multiple Abnormalities

United States
Baylor College of Medicine

Recruiting

Genetic Inclusion by Virtual Evaluation (GIVE)

Neurodevelopmental Disorders | Birth Defects | Multiple Congenital Anomaly

United States
National Human Genome Research Institute (NHGRI)

Completed

Phenotype and Etiology of Pallister-Hall Syndrome

Polydactyly | Malformations | Multiple Abnormalies

United States, Turkey
Geisinger Clinic
Patient-Centered Outcomes Research Institute

Completed

Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients

Intellectual Disability | Autism | Multiple Congenital Anomalies
Mayo Clinic

Not yet recruiting

AMNIOmics: A Prenatal Rapid Genome Validation Study

Family Members | Amniocentesis Affecting Fetus or Newborn | Multiple Anomalies of Fetus | Genetic Predisposition Suspected

United States
ArQule, Inc. (a wholly owned subsidiary of Merck...

No longer available

Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies

Growth Disorders | Proteus Syndrome | PIK3CA-Related Overgrowth Spectrum (PROS)
National Human Genome Research Institute (NHGRI)

Completed

Dose Finding Trial of MK-7075 in Children and Adults With Proteus Syndrome

Proteus Syndrome

United States
National Human Genome Research Institute (NHGRI)

Recruiting

MK-7075 (Miransertib) in Proteus Syndrome

Proteus Syndrome

United States
University Hospital, Grenoble

Not yet recruiting

Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound (FetUS)

Arthrogryposis Multiplex Congenita (AMC)
University Hospital, Grenoble

Recruiting

Pediatric and Adult Registry for Patients With ARThrogryposis (PARART)

Arthrogryposis Multiplex Congenita (AMC)

France
University Hospital, Grenoble

Completed

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE)

Pediatric ALL | Arthrogryposis Multiplex Congenita | AMC-Arthrogryposis Multiplex Congenita

France
National Human Genome Research Institute (NHGRI)
Children's National Research Institute; Uniformed Services University of the...

Recruiting

Study of Proteus Syndrome and Related Congenital Disorders

Proteus Syndrome | PIK3CA Related Overgrowth Spectrum

United States
University Hospital, Bordeaux

Completed

Pathophysiology Analysis of "Costello Syndrome" on Cellular Models (COSTELLO)

Costello Syndrome

France
National Heart, Lung, and Blood Institute (NHLBI)

Completed

dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell

Pentalogy of Cantrell

United States
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Mutations in Genes Associated With Pentalogy of Cantrell

Pentalogy of Cantrell

United States
Merck Sharp & Dohme LLC

Active, not recruiting

A Study of the Safety and Tolerability in Participants With PIK3CA-related Overgrowth Spectrum or Proteus Syndrome Who Are Being Treated With Miransertib (MK-7075) in Other Studies (MK-7075-006)

PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome (PS)

United States, Australia, Brazil, Italy, United Kingdom
ArQule, Inc. (a wholly owned subsidiary of Merck...
Worldwide Clinical Trials

Terminated

Study of Miransertib (MK-7075) in Participants With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC) (MK-7075-002) (MOSAIC)

PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome

United States, Australia, Italy, Spain
University of California, San Francisco
United States Department of Defense

Recruiting

Assessing Changes in Multi-parametric MRI in MS Patients Taking Clemastine Fumarate as a Myelin Repair Therapy (ReVIVE)

Multiple Sclerosis, Chronic Progressive | Multiple Sclerosis, Relapsing-Remitting | Multiple Sclerosis (MS) | Multiple Sclerosis Relapse | Multiple Sclerosis, Primary Progressive | Multiple Sclerosis Brain Lesion | Multiple Sclerosis Benign

United States
Children's Hospital of Fudan University
Second Affiliated Hospital of Wenzhou Medical University; Guangzhou Women and... and other collaborators

Recruiting

Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units

Genetic Disease | Congenital Malformation | Multiple Malformation

China
Fondation Ophtalmologique Adolphe de Rothschild
Institut National de la Santé Et de la Recherche Médicale, France

Terminated

Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63 (PRIMAculture)

Ectodermal Dysplasia

France
Dermelix Biotherapeutics, LLC.

Withdrawn

A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED

XLHED

United States
University of Johannesburg

Completed

Routine Versus Selective Midtrimester Ultrasound in a Poorly Resourced Setting: a Cluster Randomised Controlled Trial

Fetal Congenital Abnormalities | Prolonged Pregnancy | Multiple Pregnancy

South Africa
UConn Health

Recruiting

Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC) (ACC)

Aplasia Cutis Congenita

United States
Rennes University Hospital

Completed

Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects. (EXOMEDIANE)

Holoprosencephaly

France
National Human Genome Research Institute (NHGRI)

Completed

Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly

Holoprosencephaly

United States
Xinhua Hospital, Shanghai Jiao Tong University...

Unknown

Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

Intellectual Disability | Rare Diseases | Multiple Congenital Anomaly

China
Children's Healthcare of Atlanta
Emory University; Brigham and Women's Hospital; University of California, San... and other collaborators

Withdrawn

Genes Mutation Pentalogy of Cantrell

Pentalogy of Cantrell | Mutations in Non-muscle Genes

United States
Children's Hospital of Chongqing Medical University
The First Hospital of Jilin University; Xuzhou Maternity and Child Health Care... and other collaborators

Completed

The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects

Genetic Diseases | Birth Defect | Congenital Malformation | Multiple Malformation | Newborn; Fit

China
Oregon Health and Science University

Terminated

Melatonin Levels in Smith Magenis Syndrome (SMS)

Chromosome Disorders

United States
National Taiwan University Hospital
National Science Council, Taiwan

Completed

Role of Pseudogene in Incontinentia Pigmenti, and Its Potential Treatment

Incontinentia Pigmenti

Taiwan
National Human Genome Research Institute (NHGRI)

Completed

Clinical and Molecular Investigations Into Ciliopathies

Ciliopathy

United States
National Human Genome Research Institute (NHGRI)

Completed

Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants

Coronary Artery Disease | Proteus Syndrome | Familial Isolated Hyperparathyroidism | Coffin - Sins Syndrome | Dubouitz Syndrome

United States
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

Neurovisual Function in CHARGE Syndrome

CHARGE Syndrome

Italy
Xiaofan Zhu

Available

Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

Fanconi Anemia | Autosomal or Sex Linked Recessive Genetic Disease | Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases. | Hematopoiesis Maintainance.

China
Brugmann University Hospital

Not yet recruiting

Perioperative Transfusion Strategies in Adult Congenital Heart Disease Patients Undergoing Cardiac Surgery

Cardiac Surgery | Congenital Heart Disease | Blood Transfusion | Morbidity, Multiple

Belgium
Hoffmann-La Roche

Completed

A Study To Assess Distribution Of RO7248824 In The Central Nervous System Following Single Intrathecal Doses Of [89zr] Labeled RO7248824 In Healthy Male Participants

Angelman Syndrome

Netherlands
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
Acibadem University
Boston Children's Hospital; Ege University

Recruiting

PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry

PTEN Hamartoma Tumor Syndrome | Macrocephaly Autism Syndrome

Turkey
Centre Hospitalier Universitaire Dijon

Unknown

Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene (OFD1)

Orofaciodigital Syndromes

France
University Hospital Erlangen
Edimer Pharmaceuticals

Completed

Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia

Hypohidrotic Ectodermal Dysplasia

Germany
Université de Reims Champagne-Ardenne

Not yet recruiting

Gynaecological Follow-up of Women With Down Syndrom Aged 18 to 30 in France (Gyn-T21)

Down Syndrome

France
Hospices Civils de Lyon

Completed

Immunopathology of Loeys-Dietz Syndrome (I-LoDiS)

Loeys-Dietz Syndrome

France
Aristotle University Of Thessaloniki

Completed

Application of LLM Care and Related Affective Computing Systems on Persons With Special Needs (dsLLM)

Down Syndrome

Greece
Centre Hospitalier Universitaire Dijon

Unknown

Type 1 Multiple Endocrine Neoplasia Cohort Study (MEN1-GTEcohort)

Type 1-Multiple Endocrine Neoplasia Syndrome

France
Parc de Salut Mar
Aelis Farma

Unknown

Clinical Validation of the Bordeaux Maze Test (BORMATE)

Healthy | Down Syndrome

Spain
Mario Negri Institute for Pharmacological Research

Completed

Sirolimus Treatment in Patients With Autosomal Dominant Polycystic Kidney Disease: Renal Efficacy and Safety (SIRENA)

Polycystic Kidney

Italy
Goldman, Butterwick, Fitzpatrick and Groff

Not yet recruiting

Laser to Aid in Treatment of Keratosis Pilaris on Arms

Keratosis Pilaris
Premier Specialists, Australia

Recruiting

Development and Validation of an Investigator Global Assessment Score for Keratosis Pilaris

Keratosis Pilaris

Australia
Cairo University

Completed

Long-pulsed 1064 nm Nd-YAG Laser Versus TCA 20% in Treatment of Keratosis Pilaris

Keratosis Pilaris

Egypt
CHU de Reims

Unknown

Assessment of Women's Insight and Understanding of Down's Syndrome Screening by Non-invasive Prenatal Testing (NIPT) During Their First Ultrasound (DEPIST21)

Pregnancy

France

Clinical Trials on Abnormalities, Multiple

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