Clinical Trials on Congenital Cranial Dysinnervation Disorders

Smith-Lemli-Opitz Syndrome

United States

Smith-Lemi-Opitz Syndrome

Pregnancy | Smith-Lemli-Opitz Syndrome

United States

Smith-Lemli-Opitz Syndrome

United States

Cleft Lip and Palate | Parenting | Neurofibromatoses | Skin Condition | Alopecia | Craniofacial | Limb Difference

United Kingdom

Tuberous Sclerosis | Focal Cortical Dysplasia | Hemimegalencephaly | Refractory Focal Epilepsy | Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE)

France

Sjogren-Larsson Syndrome

United States

Amyotrophic Lateral Sclerosis | Primary Lateral Sclerosis | Progressive Muscular Atrophy | Hereditary Spastic Paraplegia

Multiple Sclerosis | Charcot-Marie-Tooth Disease | Motor Neuron Disease | Amyotrophic Lateral Sclerosis

United States

Liver Failure | Cancer | Asthma | Renal Failure | Cystic Fibrosis | Chronic Heart Failure | Sickle Cell Disease | Interstitial Lung Disease | COPD | Dyspnea | Post COVID-19 | Bronchiectasis Adult

United Kingdom

Vascular Diseases | Port-Wine Stain | Sturge-Weber Syndrome | Vascular Malformation | Capillary Malformation-Arteriovenous Malformation | Vascular Tumor

Russian Federation

Smith-Lemli-Opitz Syndrome

United States

Smith-Lemli-Opitz Syndrome

United States

Neurofibromatosis Type 1 | Ichthyosis | Ectodermal Dysplasia | Albinism | Pemphigus | Mucous Membrane Pemphigoid | Inherited Epidermolysis Bullosa | Palmoplantar Keratoderma | Incontinentia Pigmenti

France

Tuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Xeroderma Pigmentosum | Birt-Hogg-Dube Syndrome | Palmoplantar Keratoses

Netherlands

Chronic Myelomonocytic Leukemia | Fanconi Anemia | 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... and other conditions

United States

Diabetes | Chronic Kidney Diseases | Tuberous Sclerosis | Albuminuria | Treatment Adherence | Arterial Hypertension | Treatment Adherence and Compliance | Nephronophthisis | Polycystic Kidney | Chronic Glomerulonephritis | Cystic Kidney Diseases | Cortical Cystic Disease | Cystic Diseases

Italy

Hearing Loss | Smith-Lemli-Opitz Syndrome | Cone-Rod Dystrophy

United States

Acute Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Acute Lymphoblastic Leukemia | AML | Acute Leukemia | Neurofibromatosis 1 | Hematologic Malignancy | Myelodysplasia | Minimal Residual Disease | Chromosome Abnormality | Monosomy 7 | Remission | Somatic Mutation | Cytogenetic Abnormality | TP53 | Fetal Hemoglobin | Intrachromosomal Amplification of Chromosome... and other conditions

United States

Ischemic Stroke | Transient Ischemic Attack | Moyamoya Disease | Subarachnoid Hemorrhage | Vascular Dementia | Arteriovenous Fistula | Aneurysmal Subarachnoid Hemorrhage | Leukoaraiosis | Cerebrovascular Disease | Intracerebral Hemorrhage | Anoxic Brain Injury | Reversible Cerebral Vasoconstriction Syndrome | C... and other conditions

United States

Hematopoietic and Lymphoid Cell Neoplasm | Lynch Syndrome | Refractory Lymphoma | Refractory Malignant Solid Neoplasm | Recurrent Lymphoma | Recurrent Malignant Solid Neoplasm | Recurrent Neuroblastoma | Refractory Neuroblastoma | Recurrent Primary Central Nervous System Neoplasm | Refractory Primary Central... and other conditions

United States, Canada

Stroke | Magnetic Resonance Imaging | Fabry Disease | Cerebral Small Vessel Diseases | Cadasil | HTRA1-Related Autosomal Dominant Cerebral Angiopathy | COL4A1-Related Brain Small Vessel Disease With Haemorrhage | Next-generation Sequencing

Taiwan

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

United States

Heart Failure | Epilepsy | Pain | Pneumonia | Sepsis | Inflammation | Hypertension | Chronic Kidney Diseases | Hemophilia | Schizophrenia | Central Nervous System Infections | Nosocomial Pneumonia | Insomnia | Anxiety | Bipolar Disorder | Neutropenia | Staphylococcal Infections | Bradycardia | Seizures | Urinary Tract Infections | Pulmonary... and other conditions

United States, Canada, United Kingdom, Israel, Singapore

Lymphangioleiomyomatosis | Subependymal Giant Cell Astrocytoma | Facial Angiofibroma | Cortical Dysplasia | Renal Angiomyolipoma | Hypomelanotic Macules | Shagreen Patches | Ungual Fibromas | Cardiac Rhabdomyoma

Sri Lanka, Albania, Romania, Egypt, Pakistan, Georgia, India, Lithuania

Depression | Melanoma | Epilepsy | Lymphoma | Multiple Sclerosis | Kidney Cancer | Cervical Cancer | Diabetes Mellitus | Leukemia | Breast Cancer | Chronic Kidney Diseases | Chronic Obstructive Pulmonary Disease | Parkinson's Disease | Systemic Lupus Erythematosus | Multiple Myeloma | Hepatitis B | Insomnia | Colorectal Cancer | HIV/AID... and other conditions

United States

Obesity | Craniopharyngioma

Germany

Kidney Cancer | Renal Cell Carcinoma | Urologic Malignant Disorders | Familial Renal Cancer (FRC) | Clear Cell Renal Cancer

United States

Lymphoproliferative Disorders | Leiomyosarcoma | Stem Cell Transplant Complications | Solid Organ Transplant Complications | Epstein-Barr Virus (EBV)-Associated Diseases | EBV+ Post-transplant Lymphoproliferative Disease (EBV+ PTLD) | Allogeneic Hematopoietic Cell Transplant | EBV+ Sarcomas | EBV+ Lymphoproliferative... and other conditions

United States, Austria, Belgium, France, Italy, Spain, United Kingdom

Stroke | Multiple Sclerosis | Cerebral Palsy | Spinal Cord Injuries | Dystonia | Muscle Spasticity | Hereditary Spastic Paraplegia | Hypertonia, Muscle

United States

Seizure in Participants With Tuberous Sclerosis Complex | Seizure in Participants With Dravet Syndrome | Seizure in Participants With Lennox-Gastaut Syndrome

United States

Seckel Syndrome | Microcephalic Osteodysplastic Primordial Dwarfism Type II

France

Castleman Disease | Lymphangioleiomyomatosis | Digestive System Carcinoma | Malignant Neoplasm | Recurrent Breast Carcinoma | Recurrent Thyroid Gland Carcinoma | Metastatic Urothelial Carcinoma | Malignant Female Reproductive System Neoplasm | Neurofibromatosis Type 2 | Recurrent Adult Soft Tissue Sarcoma and other conditions

United States

Lymphangiomatosis | Kaposiform Lymphangiomatosis | Lymphatic Malformation | Generalized Lymphatic Anomaly (GLA) | Central Conducting Lymphatic Anomaly | CLOVES Syndrome | Gorham-Stout Disease ("Disappearing Bone Disease") | Blue Rubber Bleb Nevus Syndrome | Kaposiform Hemangioendothelioma/Tufted Angioma and other conditions

United States

Stroke | Epilepsy | Tuberous Sclerosis | Sturge-Weber Syndrome | Focal Cortical Dysplasia | Hemimegalencephaly | Polymicrogyria | Rasmussen Encephalitis | Gliosis | Tumor, Brain

United States, Canada

Primary Myelofibrosis | Polycythemia Vera | Chronic Myelomonocytic Leukemia | Recurrent Adult Acute Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue | Nodal Marginal Zone B-cell Lymphoma | Recurrent Adult Burkitt Lymphoma and other conditions

United States

Quality of Life | Tuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Birt-Hogg-Dube Syndrome | Palmoplantar Keratoses

Netherlands

Stroke | Cerebral Palsy | Amyotrophic Lateral Sclerosis | Muscular Dystrophies | Spinal Cord Injuries | Hemiparesis | Spinal Muscular Atrophy | Quadriplegia | Arthrogryposis | Neurologic Diseases | Charcot-Marie-Tooth | Weakness of Extremities as Sequela of Stroke | Weakness Due to Upper Motor Neuron Dysfunction | Arm Paralysis

United States

Smith-Lemli-Opitz Syndrome

United States

Smith-Lemli-Opitz Syndrome

United States

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

Vasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditions

United Kingdom

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

Heart Failure | Atrial Fibrillation | Ischemic Heart Disease | Cerebral Infarction | Cardiac Arrest | Moyamoya Disease | Subarachnoid Hemorrhage | Aortic Diseases | Cerebral Aneurysm | Intracerebral Hemorrhage | Occlusion and Stenosis of Precerebral Arteries | Occlusion and Stenosis of Cerebellar Arteries | Arteriovenous...

China

Spinal Cord Diseases | Spinal Stenosis | Spinal Cord Injury | Spina Bifida | Syringomyelia | Spinal Neoplasms | Transverse Myelitis | Spinal Cord Involvement | Polio and Post-polio Syndrome

United States

CHILD Syndrome | Smith Lemli Opitz Syndrome | Lathosterolosis | Desmosterolosis

United States

Medication Adherence | Adherence, Medication | Treatment Adherence | Familial Hypercholesterolemia | Motivational Interviewing | Adherence, Patient | Treatment Adherence and Compliance | Patient Compliance | Adherence | Hypercholesterolemia, Familial | Patient Adherence | Hypercholesterolemia, Autosomal Dominant and other conditions

Russian Federation

Focal Segmental Glomerulosclerosis | IgA Nephropathy | Autosomal Dominant Polycystic Kidney | CKD Associated With Type 1 Diabetes

United States

Hurler Syndrome | Sphingolipidoses | Peroxisomal Disorders | Metachromatic Leukodystrophy | Alpha-Mannosidosis | Hunter Syndrome | Mucopolysaccharidosis Disorders | Maroteaux Lamy Syndrome | Sly Syndrome | Fucosidosis | Aspartylglucosaminuria | Glycoprotein Metabolic Disorders | Recessive Leukodystrophies | Globoid... and other conditions

United States

Multiple Sclerosis | Amyotrophic Lateral Sclerosis | Muscular Dystrophies | Graves Disease | Myasthenia Gravis | Traumatic Brain Injury | Stroke, Ischemic | Stroke, Acute | Stroke Hemorrhagic | SCI - Spinal Cord Injury | Guillain-Barre Syndrome | Lupus Erythematosus | Stroke (CVA) or TIA | Ehlers-Danlos Syndromes...

United States