Clinical Trials on 22q11 Deletion Syndrome Di George Syndrome

Total 94 results

Clinical Research Associates, LLC

Active, not recruiting

Safety, Tolerability, and Efficacy of Arbaclofen in 16p11.2 Deletion

16P11.2 Deletion Syndrome

United States
Progenity, Inc.

Unknown

Whole Blood Specimen Collection From Pregnant Subjects

Down Syndrome | DiGeorge Syndrome | Turner Syndrome | Klinefelter Syndrome | Edwards Syndrome | Patau Syndrome | Perinatal Infections

United States
The Chaim Sheba Medical Center

Recruiting

The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS)

Fragile X Syndrome | Williams Syndrome | Velocardiofacial Syndrome

Israel
Rush University Medical Center
Emory University

Enrolling by invitation

Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities

Tuberous Sclerosis | Fragile X Syndrome | Rett Syndrome | Hamartoma Syndrome, Multiple | Angelman Syndrome | Creatine Deficiency, X-linked | Telomeric 22Q13 Monosomy Syndrome | Chromosome 15Q, Partial Deletion

United States
National Institute of Neurological Disorders and...
Baylor College of Medicine

Completed

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

Prader-Willi Syndrome | DiGeorge Syndrome | Williams Syndrome | Angelman Syndrome | Smith-Magenis Syndrome | Chromosome Abnormalities | Shprintzen Syndrome

United States
University Health Network, Toronto

Completed

Put a Face to a Name (Part A): The Effects of Photographic Aids on Patient Satisfaction, Clinician Communication, and Quality of Care (Face2Name)

Effects of Photographic Aids (Photos of Faces) on Patient Recall of Their Clinical Care Team | Effects of Photographic Aids (Photos of Faces) on Clinician-patient Communication | Effects of Photographic Aids (Photos of Faces) on Overall Patient Satisfaction

Canada
Washington University School of Medicine

Recruiting

Immune Disorder HSCT Protocol

Severe Combined Immunodeficiency | Chronic Granulomatous Disease | DiGeorge Syndrome | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | X-linked Lymphoproliferative Syndrome | X-linked Agammaglobulinemia | Chediak-Higashi Syndrome | IPEX | Autoimmune Lymphoproliferative Syndrome | Common Variable... and other conditions

United States
University of Aarhus
University of Copenhagen

Completed

Osmolality of Oral Supplements and Ileostomy Output

Ileostomy - Stoma | Short Bowel Syndrome | Nutritional Deficiency | Sodium Depletion

Denmark
Bai Wen-Pei

Unknown

Chinese Health Investigation of Nurse Aging

Menopausal Syndrome | Lipid Depletion | Excessive Physical Exercise, Unspecified
Celgene

Completed

A Non-interventional Study of REVLIMID® (Lenalidomide) Treatment of IPSS Low- or Intermediate-1-risk Myelodysplastic Syndromes Associated With a Deletion 5q or Refractory/Relapsed Mantle Cell Lymphoma in Korea (RevlimidPMS)

Lymphoma, Follicular | Myelodysplastic Syndromes | Lymphoma, Mantle-Cell

Korea, Republic of
Xiao-dong Zhuang
Sun Yat-sen University

Unknown

Rosuvastatin Effect on Telomere-telomerase System in ACS

Telomere Length, Mean Leukocyte | Telomere Shortening | 22q Telomere Deletion Syndrome
Swathi Sethuram

Completed

Growth Hormone Treatment in Children With Phelan McDermid Syndrome

Phelan McDermid Syndrome

United States
Neuren Pharmaceuticals Limited

Active, not recruiting

An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001) (PMS-001)

Phelan-McDermid Syndrome

United States
Alexander Kolevzon

Completed

Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

Phelan-McDermid Syndrome

United States
Denver Health and Hospital Authority

Completed

Pupil Dilation for Treatment of IFIS

Intraoperative Floppy Iris Syndrome

United States
Pontificia Universidad Catolica de Chile

Completed

Effect of the Consumption of Burgers Prepared With Wine Grape Pomace Flour, on Components of the Metabolic Syndrome (WGPF-burger)

Metabolic Syndrome | Food Selection
Affiliated Hospital of Jiangnan University

Completed

Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS

Growth Hormone Treatment | Phelan-McDermid Syndrome

China
University of Arkansas
St. Christopher's Hospital for Children

Completed

Mitochondrial Dysfunction in Phelan-McDermid Syndrome

Phelan-McDermid Syndrome

United States
Denver Health and Hospital Authority
University of Colorado, Denver

Terminated

Exploration of Pupil Dilation in Horner's Patients Taking Flomax

Horner Syndrome

United States
Alexander Kolevzon

Completed

AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy

Epilepsy | Phelan-McDermid Syndrome

United States
Centre Hospitalier Universitaire, Amiens

Recruiting

Association Between Renal and Right Cardiac Functions After Urinary Sodium Depletion Following Cardiac Surgery (DECONGEST)

Cardiorenal Syndrome

France
Vienna Institute for Research in Ocular Surgery

Unknown

Methods to Manage Intra-operative Floppy-iris Syndrome and Poor Pupil Dilation in Cataract Surgery (IFIS)

Management of Intraoperative Floppy-iris Syndrome and Small Pupils With Different Mechanical Devices

Austria
Assistance Publique - Hôpitaux de Paris
Aventis Pharmaceuticals

Completed

Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type

EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT | CHROMOSOME 2q31.2 DELETION SYNDROME
Boston Children's Hospital
Phelan-McDermid Syndrome Foundation

Completed

Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

Intellectual Disability | Autism Spectrum Disorder | Phelan-McDermid Syndrome

United States
Antonio Persico
University of Bari; Associazione Italiana Sindrome di Phelan-McDermid (AISPHEM)

Enrolling by invitation

Q10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome. (Q10ASD)

Autism Spectrum Disorder | Phelan-McDermid Syndrome

Italy
Boston Children's Hospital
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Recruiting

Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Intellectual Disability | Autism Spectrum Disorder | Phelan-McDermid Syndrome

United States
Icahn School of Medicine at Mount Sinai
National Institute of Neurological Disorders and Stroke (NINDS)

Enrolling by invitation

A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism

Autism Spectrum Disorder (ASD) | Phelan-McDermid Syndrome

United States
Assistance Publique - Hôpitaux de Paris

Completed

Monocentric STUDY, Randomised Double Blinded (Healthy Subjects, or Transversal (Patients With Gitelman Syndrome) (DEPROGE)

Gitelman Syndrome | Potassium Depletion

France
TESS Research Foundation
Stanford University

Enrolling by invitation

SLC13A5 Deficiency Natural History Study - Remote Only

Epilepsy | Movement Disorders | Rare Diseases | Genetic Disorder | Citrate Transporter Deficiency | SLC13A5 Deficiency | EIEE25 | Kohlschutter-Tonz Syndrome (Non-ROGDI) | 17p13.1 Deletions Confined to SLC13A5 Gene | Citrate Transporter Disorder

United States
Fondazione EMN Italy Onlus

Active, not recruiting

A Trial for Relapsed and Relapsed/Refractory Multiple Myeloma Patients (DPd)

Multiple Myeloma | Deletion 17P Syndrome

Italy
Masonic Cancer Center, University of Minnesota

Recruiting

Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders

Myelodysplastic Syndromes | Fanconi Anemia | Dyskeratosis Congenita | Severe Aplastic Anemia | Bone Marrow Failure | T Cell Receptor Alpha/Beta Depletion | Telomere Biology Disorder

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

Completed

WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)

Hypertension | Cardiovascular Disease | Williams Syndrome | Multisystem Developmental Disorder | Elastin Gene Deletion

United States
IRCCS Policlinico S. Matteo
Merck Sharp & Dohme LLC; Menarini Group

Unknown

Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients (MaNeLo)

Marfan Syndrome

Italy
Forteza, Albert, M.D.
Ministry of Health, Spain

Unknown

Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan Syndrome (LO-AT-MARFAN01)

Marfan Syndrome

Spain
Tianjin Medical University General Hospital

Completed

The Specificity, Sensitivity and Clinical Correlation of CBA, RIPA and ELISA in Detecting AChR and MuSK IgG of Myasthenia Gravis

Detection Autoantibody of Myasthenia Gravis

China
Sanford Health
National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaborators

Recruiting

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)

Mitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditions

United States, Australia
University of Sao Paulo General Hospital

Unknown

Prognostic Value of Flow-mediated Dilation in Hospitalized COVID-19 Patients

Covid19 | SARS-CoV Infection

Brazil
Columbia University
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Enrolling by invitation

Tissue Sample Study for Mitochondrial Disorders

Mitochondrial Disease | Mitochondrial Disorders | Melas | Kearns Sayer | NARP | MNGIE | LHON | Mitochondrial Depletion Syndrome | Leigh's Disease

United States
National Human Genome Research Institute (NHGRI)

Completed

Treatment Strategies for Children With Smith-Magenis Syndrome

Mental Retardation | Sleep Disorders, Circadian Rhythm | Developmental Delay Disorders | Chromosome Deletion | Self Injurious Behavior

United States
Academic and Community Cancer Research United
National Cancer Institute (NCI)

Recruiting

Olaparib in Treating Patients With Metastatic Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations

Bile Duct Adenocarcinoma | Fanconi Anemia Complementation Group Gene Mutation | Metastatic Bile Duct Carcinoma | PTEN Gene Deletion

United States
Centre Hospitalier Universitaire Dijon

Completed

Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia (BCL-2)

New Phenotype (Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia)

France
University Hospital, Essen
Federal Ministry of Education and Reserach (BMBF)

Completed

Cardiovascular Diseases in HIV-infected Subjects (HIV-HEART Study)

Detection of Frequency, Severity and Progression of Cardiovascular Diseases in Patients With HIV-infection. | Effect on Cardiovascular Risk and Life Quality by Age, Gender, Classic Cardiovascular Risk Factors, | HIV-specific Cardiovascular Risk Factors, Cardiovascular Medication, Antiretroviral...

Germany
Wake Forest University Health Sciences
National Cancer Institute (NCI)

Completed

CPI-613 and Bendamustine Hydrochloride in Treating Patients With Relapsed or Refractory T-Cell Non-Hodgkin Lymphoma or Hodgkin Lymphoma

Peripheral T-cell Lymphoma | Anaplastic Large Cell Lymphoma | Angioimmunoblastic T-cell Lymphoma | Adult Nasal Type Extranodal NK/T-cell Lymphoma | Hepatosplenic T-cell Lymphoma | Recurrent Adult Acute Lymphoblastic Leukemia | Recurrent Adult Hodgkin Lymphoma | Recurrent Adult T-cell Leukemia/Lymphoma and other conditions

United States
National Cancer Institute (NCI)

Terminated

Flavopiridol in Treating Patients With Relapsed or Refractory Lymphoma or Multiple Myeloma

Stage I Multiple Myeloma | Stage II Multiple Myeloma | Stage III Multiple Myeloma | Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue | Nodal Marginal Zone B-cell Lymphoma | Recurrent Adult Diffuse Large Cell Lymphoma | Recurrent Adult Diffuse Mixed Cell Lymphoma | Recurrent... and other conditions

United States

Clinical Trials on 22q11 Deletion Syndrome Di George Syndrome

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Malawi

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Rare Diseases

Drug Interventions

Dietary Supplements

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