Clinical Trials on Abnormalities, Multiple

Total 33210 results

Institut Jerome Lejeune
Fondation Jérôme Lejeune

Completed

Efficacy Study of Folinic Acid to Improve Mental Development of Children With Down Syndrome

Down Syndrome

France
Quoin Pharmaceuticals

Recruiting

Safety, Tolerability and Efficacy of QRX003 Lotion in Subjects With Netherton Syndrome

Netherton Syndrome

United States
Riphah International University

Completed

Treadmill Training With and Without Weighted Ankle Cuffs on Gait Parameters

Down's Syndrome

Pakistan
Cairo University

Completed

Effect of the Sensory Integration Approach on Balance and Motor Coordination in Children With Down Syndrome

Down Syndrome

Egypt
Badr University

Completed

Effect of Arm Ergometry on Children With Down Syndrome

EFFECT OF ARM ERGOMETRY ON RESPIRATION

Egypt
University of Colorado, Denver

Completed

Nutritional Formulation for Angelman Syndrome (FANS)

Angelman Syndrome

United States
Medical University of Vienna

Completed

The Vienna RAP Pilot Study (RAP)

ADPKD

Austria
Quoin Pharmaceuticals

Recruiting

Open Label, Safety and Efficacy Study of QRX003 Lotion in Subjects With Netherton Syndrome

Netherton Syndrome

United States
Sixera Pharma

Recruiting

A Study to Evaluate Topically Applied SXR1096 Cream in Patients With Netherton Syndrome

Netherton Syndrome

France
University Hospital, Toulouse
MedSharing

Recruiting

A Pilot Study of the Efficacy and Safety of Dupilumab Versus Placebo in Patients With Netherton Syndrome (NS-DUPI)

Netherton Syndrome

France
Children's Hospital of Philadelphia
Novartis Pharmaceuticals

Completed

Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome

Netherton Syndrome

United States
Assistance Publique - Hôpitaux de Paris

Completed

Clinical Trial Using Humira in Netherton Syndrome (AntiTNF-SN)

Netherton Syndrome

France
Institut Jerome Lejeune
Fondation Jérôme Lejeune

Completed

Pilot Study of Auto-immune Abnormalities Associated With Down Syndrome (IMMUTRI)

Down Syndrome With and Without Auto Immune Abnormalities

France
Perha Pharmaceuticals
Göteborg University; Proteas Bioanalytics

Recruiting

Phosphoproteomic Profile of Children With Down Syndrome (PEPS)

Down Syndrome

France
Aelis Farma
European Commission

Recruiting

Phase 1/2 Trial of AEF0217 in Participants With Down Syndrome (MDDS)

Down Syndrome

Spain
University of Colorado, Denver
National Institute on Aging (NIA)

Recruiting

Trial to Evaluate Safety and Efficacy of GM-CSF /Sargramostim in Down Syndrome

Down Syndrome

United States
Massachusetts Institute of Technology

Recruiting

Gamma Frequency Stimulation in Individuals With Down Syndrome

Down Syndrome

United States
University of Illinois at Chicago
American College of Sports Medicine

Completed

Blood Flow and Blood Pressure Investigation in Down Syndrome (FBI21)

Down Syndrome

United States
Taibah University

Completed

Motorized Movement Therapy & Pulmonary Functions in Down Syndrome

Down Syndrome | Pulmonary Functions

Saudi Arabia
Boston Children's Hospital
Baylor College of Medicine; Vanderbilt University Medical Center; Children's... and other collaborators

Completed

Characterization of Angelman Syndrome

Angelman Syndrome

United States
University of Mississippi Medical Center

Completed

Balance Bike Training in Down Syndrome

Down Syndrome | Postural Balance

United States
Gazi University

Completed

The Effects of Kinesiotaping on Balance in Children With Down Syndrome.

Down Syndrome | Balance

Turkey
University of Colorado, Denver
Forest Laboratories

Completed

Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome

Down Syndrome

United States
Institut Jerome Lejeune
Fondation Jérôme Lejeune

Completed

Correlations Phenotype / Genotype in Down Syndrome (INTREPID)

Down Syndrome

France
Fortaleza University

Completed

Impairments of Oral Language in Mobius Syndrome (Mobius)

Möbius Sequence
John Carroll University
University Hospital Southampton NHS Foundation Trust

Active, not recruiting

Development and Validation of an Online Neurobehavioral Evaluation Tool for PTEN Patients

PTEN Hamartoma Tumor Syndrome

United States, United Kingdom
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
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

Solid Tumors in RASopathies (4218)

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

Italy
Azitra Inc.

Not yet recruiting

Evaluation of Topical ATR12-351 in Adults With Netherton Syndrome

Netherton Syndrome

United States
Daiichi Sankyo

Recruiting

A Study to Explore Safety, Pharmacokinetics, and Early Clinical Signal of Efficacy of DS-2325a in Patients With Netherton Syndrome

Netherton Syndrome

France
Boehringer Ingelheim

Not yet recruiting

Natural History of Netherton Syndrome

Netherton Syndrome
Boehringer Ingelheim

Recruiting

A Study to Test Whether Spesolimab Helps People With a Skin Disease Called Netherton Syndrome

Netherton Syndrome

Belgium, United Kingdom, Australia, Germany, China, Malaysia, Japan, France, United States, Israel, Bulgaria, Italy, Switzerland, Austria, Netherlands, Portugal
Great Ormond Street Hospital for Children NHS Foundation...

Unknown

Gene Therapy for Netherton Syndrome

Netherton Syndrome

United Kingdom
Edimer Pharmaceuticals

Completed

Sweat Duct Imaging in Mother/Newborn Dyads

X-Linked Hypohidrotic Ectodermal Dysplasia

United States
Fondazione Policlinico Universitario Agostino Gemelli...

Recruiting

Prevalence and Characterization of Pain in RASopathies (3717)

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

Italy
University of Colorado, Denver

Completed

Growth Arrest in Focal Dermal Hypoplasia

Focal Dermal Hypoplasia
Edimer Pharmaceuticals

Completed

Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia

Ectodermal Dysplasia

United States
University of Kansas Medical Center
HRSA/Maternal and Child Health Bureau

Not yet recruiting

GameSquad for Adults With Down Syndrome

Down Syndrome | Physical Inactivity
Cairo University

Not yet recruiting

Change in Quality of Life After Full Mouth Rehabilitation Under General Anesthesia in a Group of Egyptian Children With Down Syndrome

Pediatric Dentistry
Massachusetts General Hospital
National Institutes of Health (NIH)

Recruiting

Developing a Down Syndrome Health Instrument

Health, Subjective | Down Syndrome

United States
Children's Hospital Medical Center, Cincinnati
University of California, Davis

Recruiting

Evaluating Treatment of ADHD in Children With Down Syndrome (TEAM-DS)

ADHD | Down Syndrome

United States
Odense University Hospital

Completed

Use of eHealth in Communication With Patients About Prenatal Diagnosis (HIIP)

Health Knowledge, Attitudes, Practice | Downs Syndrome

Denmark
University Hospital, Bordeaux

Recruiting

Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants. (GENEPI)

Rubinstein-Taybi Syndrome

France
Assistance Publique - Hôpitaux de Paris

Unknown

Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes (DASIRUWIBE)

Pregnant Women Requiring Amniocentesis

France
National Center for Research Resources (NCRR)
Children's Hospital Medical Center, Cincinnati

Completed

Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease

Cholestasis | Biliary Atresia | Alagille Syndrome

United States
Chunxiu Gong
The First Affiliated Hospital with Nanjing Medical University; Tongji Hospital and other collaborators

Not yet recruiting

Genetic Diagnosis and Human Growth Hormone Treatment in Small for Gestational Age Children With Short Stature

Genetic Diseases, Inborn | Small for Gestational Age Infant | Silver-Russell Syndrome
Stanford University

Completed

Tele-Clinic Visits in Pediatric Marfan Patients Using Parental Echo: The Future?

Marfan Syndrome

United States
Institut National de la Santé Et de la Recherche...

Unknown

Natural History and Biological Study of Netherton Syndrome (NSnatbio)

Healthy | Netherton Syndrome

France
Boston Children's Hospital
Litron Laboratories

Completed

Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data

Heterotaxy Syndrome

United States
Edimer Pharmaceuticals

Completed

Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

Hypohidrotic Ectodermal Dysplasia

United States

Clinical Trials on Abnormalities, Multiple

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Medical Conditions

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