Clinical Trials on PPP2R5D-Related Intellectual Disability

Total 1061 results

University Medical Centre Ljubljana
University of Ljubljana, Faculty of Medicine; PharmaHemp

Completed

Full-spectrum Medical Cannabis for Treatment of Spasticity in Patients With Severe Forms of Cerebral Palsy (HemPhar)

Quality of Life | Cannabis | Physical Disability | Spastic Cerebral Palsy | Children, Adult

Slovenia
Sangamo Therapeutics

Active, not recruiting

Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX (LTFU)

Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II

United States
University Hospital, Montpellier
Agence de La Biomédecine

Active, not recruiting

NIPD on cffDNA for Triplet Repeat Diseases

Fragile X Syndrome | Huntington Disease | Myotonic Dystrophy 1

France
Jakub Antczak

Completed

Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy

Adrenomyeloneuropathy | Hereditary Spastic Paraplegia

Poland
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
ProgenaBiome

Recruiting

A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism

Autism Spectrum Disorder | Autistic Disorder | Autism | Autism, Akinetic | Autism; Atypical | Autism; Psychopathy | Autism Fragile Syndrome X | Autism With High Cognitive Abilities | Autism-Related Speech Delay | Autism, Susceptibility to, 6 | Autism Spectrum Disorder High-Functioning | Autistic Thinking | Autism... and other conditions

United States
Lenetix Medical Screening Laboratory

Unknown

Non-Invasive Determination of Fetal Chromosome Abnormalities

Down Syndrome (Trisomy 21) | Edward's Syndrome (Trisomy 18) | Patau Syndrome (Trisomy 13) | Klinefelter Syndrome (47, XXY) | and Other Chromosome | Abnormalities.

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
Universidad Pública de Navarra
Fundacion Miguel Servet; Complejo Hospitalario de Navarra

Recruiting

Exercise Effects on Health Status in Patients With Severe Mental Illness (SMI01)

Metabolic Syndrome | Exercise | Physical Disability | Health-Related Behavior | Mental Disorders, Severe | Physical Inactivity | Severe Mental Disorder | Mental Deterioration

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

Completed

Reproduction and Survival After Cardiac Defect Repair

Heart Diseases | Cardiovascular Diseases | Aortic Valve Stenosis | Heart Septal Defects, Atrial | Down Syndrome | Tetralogy of Fallot | Pulmonic Stenosis | Transposition of Great Vessels | Heart Septal Defects, Ventricular | Ductus Arteriosus, Patent | Coarctation of Aorta | Defect, Congenital Heart
Oslo University Hospital
University of Oslo; Ullevaal University Hospital; University Hospital, Akershus

Withdrawn

Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.

Microcephaly | Hearing Loss | Mental Retardation | Chorioretinitis

Norway
CENTOGENE GmbH Rostock

Terminated

European Alpha-Mannosidosis Participant (EUMAP)

Deafness | Immunodeficiency | Mental Retardation | Gingival Hypertrophy | Skeletal Abnormalities | Facial Dysmorphism

Germany, Switzerland
University of Michigan
National Heart, Lung, and Blood Institute (NHLBI); National Institutes of Health...

Recruiting

Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia

Obstructive Sleep Apnea | Down Syndrome | Tolerance | Trisomy 21 | Hypertonia, Muscle | Nasal Airway Obstruction

United States
University College Cork

Not yet recruiting

Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography (DiFuSE)

Gestational Diabetes | Neonatal Encephalopathy | Diastolic Dysfunction | Trisomy 21 | Transient Tachypnea of the Newborn | Small for Gestational Age at Delivery

Ireland
Progenity, Inc.

Completed

Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

Down Syndrome | Aneuploidy | DiGeorge Syndrome | Turner Syndrome | Klinefelter Syndrome | Chromosome Deletion | Edwards Syndrome | Patau Syndrome

United States
Erasmus Medical Center
Utrecht University

Unknown

Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex (RAPIT)

Tuberous Sclerosis Complex | TSC Related Cognitive Disability | TSC Related Autism | TSC Related Learning Problems

Netherlands
Gillette Children's Specialty Healthcare

Completed

Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions

Cerebral Palsy | Muscular Dystrophy | Osteopenia | Rett Syndrome | Spinal Muscular Atrophy | Spina Bifida

United States
University of Milano Bicocca
Comitato Maria Letizia Verga,Italy

Recruiting

Precision Exercise in Children With Malignant Hemopathies (SportTherapy)

Lymphoma, Non-Hodgkin | Leukemia, Myeloid, Acute | Leukemia, B-cell | Adrenoleukodystrophy | Lymphoma, Hodgkin | Thalassemia Major | Leukemia, T Cell | Drepanocytosis

Italy
Natera, Inc.
Children's Hospital of Philadelphia; Montefiore Medical Center; University of... and other collaborators

Completed

SNP-based Microdeletion and Aneuploidy RegisTry (SMART) (SMART)

Prader-Willi Syndrome | DiGeorge Syndrome | 22q11 Deletion Syndrome | Angelman Syndrome | Trisomy 21 | Trisomy 18 | Trisomy 13 | Monosomy X | Sex Chromosome Abnormalities | 1p36 Deletion Syndrome | Cri-du-Chat Syndrome

United States, Australia, Ireland, Spain, Sweden, United Kingdom
University of Cincinnati
Children's Hospital Medical Center, Cincinnati

Terminated

Study of Bile Acids in Patients With Peroxisomal Disorders

Adrenoleukodystrophy | Zellweger Syndrome | Infantile Refsum's Disease | Bifunctional Enzyme Deficiency
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
Institute for Neurodegenerative Disorders

Completed

A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions (FPEB)

Parkinson Disease | Alzheimer Disease | Mild Cognitive Impairment | Fragile X Syndrome | Huntington Disease | Autistic Spectrum Disorders

United States
National Cancer Institute (NCI)
Childrens Oncology Group (COG); LLS PedAL LLC

Recruiting

Highest Dose of Uproleselan in Combination With Fludarabine and Cytarabine for Patients With Acute Myeloid Leukemia, Myelodysplastic Syndrome, or Mixed Phenotype Acute Leukemia Relapsed or Refractory and That Expresses E-selectin Ligand on the Cell Membrane

Down Syndrome | Recurrent Acute Myeloid Leukemia | Recurrent Myelodysplastic Syndrome | Refractory Acute Myeloid Leukemia | Refractory Myelodysplastic Syndrome | Recurrent Mixed Phenotype Acute Leukemia | Refractory Mixed Phenotype Acute Leukemia | Acute Myeloid Leukemia Post Cytotoxic Therapy | Myelodysplastic...

United States
Richard Frye
Autism Discovery and Treatment Foundation

Recruiting

Patterns of Neurodevelopmental Disorders

Epilepsy | Neurodevelopmental Disorders | Autism Spectrum Disorder | Down Syndrome | Mitochondrial Encephalomyopathies | Pediatric Acute-Onset Neuropsychiatric Syndrome | Cerebral Folate Deficiency | Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection

United States
Mirum Pharmaceuticals, Inc.
Children's Hospital Medical Center, Cincinnati

Completed

Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid

Cholestasis | Peroxisomal Disorders | Adrenoleukodystrophy | Zellweger Syndrome | Infantile Refsum's Disease

United States
Stephen G. Kaler, MD

Recruiting

NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Occipital Horn Syndrome

Menkes Disease | Occipital Horn Syndrome

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

Recruiting

MPS (RaDiCo Cohort) (RaDiCo-MPS)

Mucopolysaccharidosis I | Mucopolysaccharidosis II | Mucopolysaccharidosis VI | Mucopolysaccharidosis III | Mucopolysaccharidosis IV | Mucopolysaccharidosis VII | Multiple Sulfatase Deficiency Disease | Mucopolysaccharidosis IX

France
Children's Oncology Group
National Cancer Institute (NCI)

Active, not recruiting

Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma

Acute Lymphoblastic Leukemia | Down Syndrome | Philadelphia Chromosome Positive | Childhood B Acute Lymphoblastic Leukemia With t(9;22)(q34.1;q11.2); BCR-ABL1 | Childhood B Acute Lymphoblastic Leukemia | Adult B Lymphoblastic Lymphoma | Ann Arbor Stage I B Lymphoblastic Lymphoma | Ann Arbor Stage... and other conditions

United States, Canada, Puerto Rico, Australia, New Zealand, Switzerland, Ireland
LLS PedAL Initiative, LLC
National Cancer Institute (NCI); Children's Oncology Group

Recruiting

The Pediatric Acute Leukemia (PedAL) Screening Trial - A Study to Test Bone Marrow and Blood in Children With Leukemia That Has Come Back After Treatment or Is Difficult to Treat - A Leukemia & Lymphoma Society and Children's Oncology Group Study

Acute Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Acute Lymphoblastic Leukemia | Myelodysplastic Syndrome | Myeloid Leukemia Associated With Down Syndrome | Mixed Phenotype Acute Leukemia | Acute Myeloid Leukemia Post Cytotoxic Therapy | Myelodysplastic Syndrome Post Cytotoxic Therapy

United States, Canada, Australia, Puerto Rico, New Zealand
Masonic Cancer Center, University of Minnesota

Completed

HSCT for High Risk Inherited Inborn Errors

Wolman Disease | Adrenoleukodystrophy | Metachromatic Leukodystrophy | Sanfilippo Syndrome | GM1 Gangliosidosis | Globoid Cell Leukodystrophy | Tay Sachs Disease | Sandhoffs Disease | I-Cell Disease

United States
University of North Carolina, Chapel Hill
National Human Genome Research Institute (NHGRI); East Carolina University; Mission...

Active, not recruiting

North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 (NCGENES2)

Neuromuscular Diseases | Movement Disorders | Intellectual Disability | Autism Spectrum Disorder | Microcephaly | Hearing Loss | Genetic Disease | Inborn Errors of Metabolism | Epilepsy; Seizure | Brain Malformation | Hypotonia | Development Delay | Chromosome Abnormality | Dysmorphic Features | Skeletal Dysplasia | Congenital... and other conditions

United States
Masonic Cancer Center, University of Minnesota

Completed

Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders

Mucopolysaccharidosis | Hurler Syndrome | Sphingolipidoses | Peroxisomal Disorders | Krabbe Disease | Adrenoleukodystrophy (ALD) | Hunter Syndrome | Sly Syndrome | Fucosidosis | Aspartylglucosaminuria | Alpha Mannosidosis | Metachromatic Leukodystrophy (MLD) | Maroteaux-Lamy Syndrome

United States
University of Chicago
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaborators

Completed

Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children

Krabbe Disease | Mucopolysaccharidosis Type II (MPS II) | Mucopolysaccharidosis Type I (MPS I) | Mucopolysaccharidosis Type III (MPS III) | Mucopolysaccharidosis Type VI (MPS VI)

United States
University of California, San Francisco

Recruiting

Registry of Patients Diagnosed With Lysosomal Storage Diseases (LSD Registry)

Mucopolysaccharidosis I | Mucopolysaccharidosis II | Mucopolysaccharidosis VI | Wolman Disease | Pompe Disease Infantile-Onset | Mucopolysaccharidosis IV A | Mucopolysaccharidosis VII | Neuronopathic Gaucher Disease

United States
Masonic Cancer Center, University of Minnesota

Completed

Stem Cell Transplant for Inborn Errors of Metabolism

Niemann-Pick Disease | Wolman Disease | Adrenoleukodystrophy | Batten Disease | Metachromatic Leukodystrophy | GM1 Gangliosidosis | Fucosidosis | Globoid Cell Leukodystrophy | Gaucher's Disease | Tay Sachs Disease | Sandhoff Disease

United States
Johns Hopkins University
National Institute on Aging (NIA)

Active, not recruiting

Sight and Hearing Investigation Into Effects on Delirium (SHIELD)

Delirium | Delirium on Emergence | Hearing Loss | Hearing Loss, High-Frequency | Hearing Loss, Sensorineural | Delirium, Cause Unknown | Hearing Loss, Bilateral | Hearing Disability | Delirium in Old Age | Delirium of Mixed Origin | Delirium Superimposed on Dementia | Delirium Confusional State | Delirium With... and other conditions

United States
Joanne Kurtzberg, MD
The Marcus Foundation

Recruiting

UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells (DUOC-01)

Mucopolysaccharidosis II | Brain Diseases, Metabolic, Inborn | Adrenoleukodystrophy | Batten Disease | Leukodystrophy, Metachromatic | Leukodystrophy, Globoid Cell | Alpha-Mannosidosis | Tay-Sachs Disease | Pelizaeus-Merzbacher Disease | Sandhoff Disease | Neimann Pick Disease | Sanfilippo Mucopolysaccharidoses

United States
Children's Hospital of Philadelphia
Illumina, Inc.

Active, not recruiting

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

Mucopolysaccharidoses | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2 Gangliosidosis | Zellweger... and other conditions

United States
Children's Hospital of Philadelphia
Eli Lilly and Company; University of Pennsylvania; Takeda; National Institute of... and other collaborators

Recruiting

The Myelin Disorders Biorepository Project (MDBP)

Mucopolysaccharidoses | Leukoencephalopathies | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2... and other conditions

United States
Anagnostou, Evdokia, M.D.
The Hospital for Sick Children; Canadian Institutes of Health Research (CIHR); Alberta Health services and other collaborators

Not yet recruiting

Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders (CALM)

Anxiety Disorders | Generalized Anxiety Disorder | Anxiety | Tuberous Sclerosis | ADHD | Neurodevelopmental Disorders | Autism Spectrum Disorder | Fragile X Syndrome | Social Anxiety | Social Anxiety Disorder | Agoraphobia | Tourette Syndrome | Tic Disorders | Autism | ADHD Predominantly Inattentive Type | ADHD - Combined... and other conditions

Canada
Duke University
University of Edinburgh in Scotland; Tan Tock Seng Hospital in Singapore; Queens...

Recruiting

Retinal Imaging in Neurodegenerative Disease

Multiple Sclerosis | Parkinson's Disease | Traumatic Brain Injury | Down Syndrome | Mild Cognitive Impairment | Frontotemporal Dementia | Huntington Disease | Amyotrophic Lateral Sclerosis (ALS) | Alzheimer's Disease | Concussion | Post-Traumatic Stress Disorder | Neuro-Degenerative Disease | Lewy Body Dementia | Normal... and other conditions

United States
University of Aarhus

Completed

Exploring the Comorbidity Between Mental Disorders and General Medical Conditions (COMO-GMC)

Heart Failure | Stroke | Epilepsy | Pain | Multiple Sclerosis | Hypertension | Diabetes Mellitus | Cancer | Chronic Kidney Diseases | Schizophrenia | Parkinson Disease | Migraine | Inflammatory Bowel Diseases | Anemia | HIV/AIDS | Atrial Fibrillation | Dyslipidemias | Allergy | Osteoporosis | Ischemic Heart Disease | Hearing Disorders | Substance... and other conditions
University Hospital, Bordeaux

Recruiting

Functional Tests to Resolve Unsolved Rare Diseases. Rares. (RID)

Intellectual Disability | Cystic Fibrosis | Neurodegeneration With Brain Iron Accumulation (NBIA) | Congenital Heart Defect | Albinism | Rubinstein-Taybi Syndrome | Periventricular Nodular Heterotopia

France
Faculty Hospital Kralovske Vinohrady

Completed

The Epidemiology, Management and Comorbidities in Alopecia Areata in Czech Republic

Infections | Multiple Sclerosis | Autoimmune Diseases | Diabetes Mellitus, Type 1 | Rheumatoid Arthritis | Vaccine Reaction | Inflammatory Bowel Diseases | Psoriasis | Crohn Disease | Ulcerative Colitis | Down Syndrome | Atopic Dermatitis | Vitiligo | Alopecia Areata | COVID-19 Pandemic | Ankylosing Spondylitis | Lupus Erythematosus and other conditions

Czechia
Fairview University Medical Center

Unknown

Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation

Mucopolysaccharidosis I | Niemann-Pick Disease | Mucopolysaccharidosis VI | Wolman Disease | Adrenoleukodystrophy | Metachromatic Leukodystrophy | Pulmonary Complications | Fucosidosis | Globoid Cell Leukodystrophy | Gaucher's Disease | Mannosidosis | I Cell Disease

United States
University Hospital, Ghent
Groupe SEBBIN

Recruiting

Prospective Observational Study on SEBBIN Silicone Gel-filled Testicular Implants

Gender Dysphoria | Orchitis | Testicular Cancer | Prosthesis Durability | Testicular Torsion | Undescended Testes | Testicular Agenesis | Testicular Atrophy

Belgium
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
Children's Oncology Group
National Cancer Institute (NCI)

Completed

Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes

Secondary Acute Myeloid Leukemia | Childhood Acute Erythroleukemia (M6) | Childhood Acute Megakaryocytic Leukemia (M7) | Childhood Acute Monoblastic Leukemia (M5a) | Childhood Acute Monocytic Leukemia (M5b) | Childhood Acute Myeloblastic Leukemia With Maturation (M2) | Childhood Acute Myeloblastic... and other conditions

United States, Canada, Australia, Puerto Rico
RTI International
University of North Carolina, Chapel Hill

Enrolling by invitation

Parent and Infant Inter(X)Action Intervention (PIXI)

Tuberous Sclerosis | Down Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Rett Syndrome | Turner Syndrome | Williams Syndrome | Angelman Syndrome | Chromosome 22q11.2 Deletion Syndrome | Klinefelter Syndrome | Phelan-McDermid Syndrome | Dup15Q Syndrome | Smith Magenis Syndrome

United States
Talaris Therapeutics Inc.
Duke University

Terminated

Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders

Niemann-Pick Disease | Alpha-mannosidosis | Tay Sachs Disease | Sandhoff Disease | Metachromatic Leukodystrophy (MLD) | Hurler-Scheie Syndrome | Hurler Syndrome (MPS I) | Hunter Syndrome (MPS II) | Sanfilippo Syndrome (MPS III) | Krabbe Disease (Globoid Leukodystrophy) | Adrenoleukodystrophy (ALD and AMN) | Pelizaeus...

United States

Clinical Trials on PPP2R5D-Related Intellectual Disability

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