Clinical Trials on Acid SphingoMyelinase Deficiency

Total 10032 results

Children's Hospital Medical Center, Cincinnati

Active, not recruiting

Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia

Fanconi Anemia | Squamous Cell Carcinoma

United States
CENTOGENE GmbH Rostock

Terminated

European Alpha-Mannosidosis Participant (EUMAP)

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

Germany, Switzerland
CENTOGENE GmbH Rostock

Completed

Biomarker for Duchenne Muscular Dystrophy (BioDuchenne)

Scoliosis | Muscular Atrophy | Duchenne Muscular Dystrophy | Lordosis | Muscular Weakness | Increased Lordosis/Scoliosis | Hyporeflexia | Red-Green Color Blindness

Egypt, India, Albania, Pakistan, Georgia, Lebanon, Romania, Sri Lanka
LG Life Sciences

Completed

Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj.

Growth Hormone Deficiency | Chronic Renal Failure | Turner Syndrome | Infant, Small for Gestational Age | Short Stature, Idiopathic

Korea, Republic of
Novartis Pharmaceuticals

Completed

Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias

Myelodysplastic Syndromes | Fanconi Syndrome | Anemia, Aplastic | Beta-thalassemia | Anemia, Diamond-Blackfan

United States
National Institute of Neurological Disorders and...

Completed

Assessment of Patients With Multiple Sclerosis (MS)

Multiple Sclerosis | Vasculitis | Tropical Spastic Paraparesis | HTLV-I Infection | Herpesviridae Infection

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

Completed

Pediatric Pulmonary and Cardiovascular Complications of Vertically Transmitted HIV Infection (P2C2)

Heart Diseases | Cardiovascular Diseases | HIV Infections | Acquired Immunodeficiency Syndrome | Heart Failure | Lung Diseases | Cytomegalovirus Infections | Pneumocystis Carinii Infections | Ebstein-Barr Virus Infections
Rigshospitalet, Denmark

Completed

Fat and Glucose Metabolism in Fed and Fasted State in Patients With Low Skeletal Muscle Mass

Spinal Muscular Atrophy | Merosin Deficient Congenital Muscular Dystrophy

Denmark
Masonic Cancer Center, University of Minnesota
National Institutes of Health (NIH)

Recruiting

Role of Acetaldehyde in the Development of Oral Cancer

Fanconi Anemia | Oral Cavity Carcinoma | Alcohol-Related Carcinoma

United States
Massachusetts General Hospital

Recruiting

Prostate Cancer Genetic Risk Evaluation and Screening Study (PROGRESS)

Lynch Syndrome | Genetic Predisposition to Disease | Prostate Cancer | BRCA1 Mutation | BRCA2 Mutation | Prostatic Neoplasm | ATM Gene Mutation | MMR Mutation

United States
LG Chem

Recruiting

Long-term Safety and Effectiveness of Growth Hormone With GHD, TS, CRF, SGA , ISS and PWS in Children (LGS)

Growth Hormone Deficiency | Chronic Renal Failure | Turner Syndrome | Small for Gestational Age | Idiopathic Short Stature

Korea, Republic of
University Health Network, Toronto
Sunnybrook Health Sciences Centre; University of Toronto; Hamilton Health Sciences... and other collaborators

Active, not recruiting

Universal Screening for Lynch Syndrome in Women With Endometrial and Non-Serous Ovarian Cancer (LS2)

Colorectal Neoplasms | Ovarian Neoplasms | Lynch Syndrome | Endometrial Neoplasms

Canada
Drexel University
University of North Carolina, Chapel Hill; University of KwaZulu

Completed

MAMAS: Mentoring Adolescent Mothers at School (MAMAS)

Chlamydia | Gonorrhea | Human Immunodeficiency Virus | Trichomonas Vaginitis | Herpes Simplex Type II

South Africa
University Hospital, Essen
Nico Reinsch M. D.; Till Neumann Prof. M. D.

Completed

A Prospective Observational Trial to Determine Cardiovascular Diseases in HIV-infected Patients (HIV-HEART10)

Myocardial Infarction | Heart Failure | Aging | Coronary Heart Disease | HIV-infection | HIV-encephalopathy

Germany
Merck KGaA, Darmstadt, Germany

Completed

Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN®

Growth Hormone Deficiency | Turner Syndrome

Argentina, Australia, Austria, Canada, France, Germany, Italy, Norway, Russian Federation, Singapore, Spain, Sweden, United Kingdom
Masonic Cancer Center, University of Minnesota

Completed

Stem Cell Transplant for Immunologic or Histiocytic Disorders

Immunologic Deficiency Syndromes | Hemophagocytic Lymphohistiocytosis | Chediak-Higashi Syndrome | X-Linked Lymphoproliferative Disorders | Griscelli Syndrome | Langerhans-Cell Histiocytosis

United States
Alnylam Pharmaceuticals

Completed

ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP)

Acute Hepatic Porphyria | Acute Intermittent Porphyria | Porphyria, Acute Intermittent | Acute Porphyria | Hereditary Coproporphyria (HCP) | Variegate Porphyria (VP) | ALA Dehydratase Deficient Porphyria (ADP)

United States, Spain, United Kingdom, Korea, Republic of, Australia, Bulgaria, Canada, Denmark, Finland, France, Germany, Italy, Japan, Mexico, Netherlands, Poland, Sweden, Taiwan
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
Momentum Data
Pfizer; University of Oxford; University of Surrey

Completed

The Epidemiology, Management, and the Associated Burden of Related Conditions in Alopecia Areata

Multiple Sclerosis | Pneumonia | Rheumatoid Arthritis | Systemic Lupus Erythematosus | Anxiety Disorders | Psoriasis | Asthma | Type 1 Diabetes | Graves Disease | Celiac Disease | Allergic Rhinitis | Urinary Tract Infections | Crohn Disease | Influenza | Ulcerative Colitis | Herpes Zoster | Herpes Simplex | Atopic Dermatitis | V... and other conditions

United Kingdom
Mayo Clinic

Completed

Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity

Multiple Sclerosis | Rheumatoid Arthritis | Systemic Lupus Erythematosus | Uveitis | Vasculitis | Psoriasis | Graves Disease | Systemic Sclerosis | Celiac Disease | Crohn Disease | Type 1 Diabetes Mellitus | Myasthenia Gravis | Ulcerative Colitis | Dermatomyositis | Polymyositis | Vitiligo | Hepatitis, Autoimmune | Polymyalgia... and other conditions

United States
Alnylam Pharmaceuticals

Terminated

INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP

Acute Hepatic Porphyria | Acute Intermittent Porphyria (AIP) | Hereditary Coproporphyria (HCP) | Variegate Porphyria (VP) | ALA Dehydratase Deficient Porphyria (ADP) | Hepatic Porphyrias | Porphyria Acute

United States
Children's Hospital Medical Center, Cincinnati
Memorial Sloan Kettering Cancer Center; Fred Hutchinson Cancer Center

Recruiting

HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy (RAFA)

Fanconi Anemia | Myelodysplastic Syndrome (MDS) | Acute Myelogenous Leukemia (AML) | Severe Marrow Failure

United States
National Cancer Institute (NCI)

Active, not recruiting

Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer

Lynch Syndrome | Colon Mucinous Adenocarcinoma | Colon Signet Ring Cell Adenocarcinoma | Stage IIA Colon Cancer AJCC v7 | Stage IIB Colon Cancer AJCC v7 | Stage IIC Colon Cancer AJCC v7

United States, Canada, Puerto Rico, Peru, South Africa
April M Young
National Institute on Drug Abuse (NIDA)

Active, not recruiting

Kentucky Outreach Service Kiosk (KyOSK): Reducing HIV, HCV, and Overdose Risk

Sexually Transmitted Diseases | Opioid-Related Disorders | Substance Abuse | Drug Overdose | Opiate Substitution Treatment | Human Immunodeficiency Virus (HIV) | Hepatitis C (HCV) | Intravenous Drug Usage

United States
GlaxoSmithKline

Terminated

Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures (ELEVATE)

Liver Diseases | HIV Infection | Thrombocytopenia | Hepatitis C Virus | HBV | NASH - Nonalcoholic Steatohepatitis | Human Immunodeficiency Virus | Chronic Liver Disease | HCV | Non-alcoholic Steatohepatitis | Hepatitis B Virus

United States, Spain, Taiwan, Italy, Belgium, France, Korea, Republic of, Canada, Russian Federation, Pakistan, Poland, India, Argentina
MP Biomedicals, LLC
MP Biomedicals Asia Pacific Pte. Ltd.

Completed

Dual Algorithm Post Market Clinical Study

HTLV-I Infections | HTLV-II Infections | Human T-lymphotropic Virus 1 | Human T-lymphotropic Virus 2 | HTLV I Associated T Cell Leukemia Lymphoma | HTLV I Associated Myelopathies

United States
Johns Hopkins University
National Cancer Institute (NCI); National Institutes of Health (NIH); ChiRhoClin...

Recruiting

The Cancer of the Pancreas Screening-5 CAPS5)Study (CAPS5)

Lynch Syndrome | Pancreas Cancer | Gene Mutation | Peutz-Jeghers Syndrome (PJS) | Germline Mutation Carrier

United States
University of Alabama at Birmingham
National Institutes of Health (NIH); Fogarty International Center of the National...

Active, not recruiting

Liver Fibrosis in Zambian HIV-HBV Co-infected Patients

Hepatocellular Carcinoma | Fibrosis, Liver | HBV | Cirrhosis, Liver | Human Immunodeficiency Virus | Alcoholic Hepatitis | Hepatitis Delta Virus

Zambia
Bloodworks
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Prospective Study of HIV Infection in Hemophiliacs

HIV Infections | Acquired Immunodeficiency Syndrome | Hemophilia A | Hepatitis, Viral, Human | Blood Disease | Cytomegalovirus Infections | Blood Transfusion
Medical University of Graz

Completed

Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients

Skin Cancer | Basal Cell Nevus Syndrome | Xeroderma Pigmentosum

Austria
National Center for Research Resources (NCRR)
James Whitcomb Riley Hospital for Children

Completed

Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes

Thrombocytopenia | Dyskeratosis Congenita | Fanconi's Anemia | Shwachman Syndrome
Elizabeth Glaser Pediatric AIDS Foundation
Bill and Melinda Gates Foundation

Active, not recruiting

Evaluation of Advanced HIV Disease Differentiated Care Model in Malawi

AIDS-related Kaposi Sarcoma | Cryptococcal Infections | AIDS and Infections | Opportunistic Infections, HIV-Related | AIDS With Tuberculosis

Malawi
NHS Blood and Transplant
Irish Blood Transfusion Service; Welsh Blood Service; Scottish National Blood...

Completed

Notification of Donors With Positive Microbiology Markers

Hepatitis B | Hepatitis C | Human Immunodeficiency Virus | Creutzfeldt-Jakob Syndrome | Human T-lymphotropic Virus I & II

United Kingdom
Sanofi Pasteur, a Sanofi Company

Completed

DTaP-IPV-HB-PRP-T Combined Vaccine as a Primary Series and a Second Year of Life Booster in HIV-Exposed Infected and Uninfected Infants

Hepatitis B | Pertussis | Tetanus | Diphtheria | Polio | Human Immunodeficiency Virus Infection

South Africa
MP Biomedicals, LLC
MP Biomedicals Asia Pacific Pte. Ltd.

Completed

MP Diagnostics HTLV Blot 2.4 Post-Market Clinical Study

HTLV-I Infections | HTLV-II Infections | Human T-lymphotropic Virus 1 | Human T-lymphotropic Virus 2 | HTLV I Associated T Cell Leukemia Lymphoma | HTLV I Associated Myelopathies

United States
MP Biomedicals, LLC
Vital Systems Inc.

Unknown

Evaluation of the MP Diagnostics HTLV Blot 2.4

HTLV-I Infections | HTLV-II Infections | Human T-lymphotropic Virus 1 | Human T-lymphotropic Virus 2 | HTLV I Associated T Cell Leukemia Lymphoma | HTLV I Associated Myelopathies

United States
Paul Szabolcs

Recruiting

Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT (HSCT+RIC)

Congenital Bone Marrow Failure Syndromes | Inflammatory Conditions | Primary Immunodeficiency (PID) | Inherited Metabolic Disorders (IMD) | Hereditary Anemias | Systemic Juvenile Idiopathic Arthritis (sJIA)

United States
AIDS Malignancy Consortium
National Cancer Institute (NCI); University of Arkansas; The Emmes Company, LLC; AIDS and Cancer Specimen Resource

Active, not recruiting

Surgery in Treating Patients With Early Stage Anal Canal or Perianal Cancer and HIV Infection

HIV Infection | Anal Squamous Cell Carcinoma | Stage 0 Anal Canal Cancer | Stage I Anal Canal Cancer

United States
Umeå University
Karolinska Institutet; Lund University; Göteborg University

Enrolling by invitation

Direct Information to At-risk Relatives (DIRECT)

Lynch Syndrome | Hereditary Breast and Ovarian Cancer Syndrome | Familial Breast Cancer | Hereditary Breast Cancer | Familial Colorectal Cancer

Sweden
National Cancer Institute (NCI)

Terminated

Erlotinib Hydrochloride in Treating Non-Small Cell Lung Cancer That is Metastatic or Cannot be Removed by Surgery in Patients With HIV Infection

HIV Infection | Stage IIIA Non-Small Cell Lung Cancer | Stage IIIB Non-Small Cell Lung Cancer | Recurrent Non-Small Cell Lung Carcinoma | Stage IV Non-Small Cell Lung Cancer

United States
Fairview University Medical Center

Completed

Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Myelodysplastic Syndrome and Acute Leukemia Related to Fanconi's Anemia

Myelodysplastic Syndromes | Leukemia, Lymphocytic, Acute | Fanconi's Anemia | Leukemia, Nonlymphocytic, Acute

United States
Foundation Fighting Blindness

Recruiting

Inherited Retinal Degenerative Disease Registry (MRTR)

Retinitis Pigmentosa | Choroideremia | Usher Syndrome | Batten Disease | Leber Congenital Amaurosis | Goldmann-Favre Syndrome | Kearns-Sayre Syndrome | Retinal Disease | Bardet-Biedl Syndrome | Stargardt Disease | Cone Dystrophy | Retinoschisis | Achromatopsia | Gyrate Atrophy | Eye Diseases Hereditary | Bassen-Kornzweig... and other conditions

United States
AIDS Malignancy Consortium
National Cancer Institute (NCI); University of Arkansas; The Emmes Company, LLC; University of Stellenbosch

Withdrawn

Testing the Addition of Paclitaxel and Carboplatin Given After Standard Chemotherapy and Radiation for Cervical Cancer in HIV-positive Women

HIV Infection | Cervical Adenocarcinoma | Cervical Adenosquamous Carcinoma | Cervical Squamous Cell Carcinoma, Not Otherwise Specified | FIGO Stage IIB Cervix Carcinoma | FIGO Stage III Cervix Carcinoma | FIGO Stage IVA Cervix Carcinoma

South Africa, Zimbabwe
Duke University
Susan G. Komen Breast Cancer Foundation

Completed

Telemedicine vs. Face-to-Face Cancer Genetic Counseling

Lynch Syndrome | Hereditary Breast and Ovarian Cancer Syndrome

United States
Federal University of São Paulo
Allergan

Completed

Safety Study of the Use of Topical Cyclosporine in the Treatment of Dry Eye Disease

Evaporative Dry Eye Disease | Primary Sjogren Syndrome | Secondary Sjogren Syndrome | Aqueous Deficient Dry Eye Disease

Brazil
Royal Marsden NHS Foundation Trust

Recruiting

Inherited Cancer Early Diagnosis (ICED) Study (ICED)

Lynch Syndrome | Familial Adenomatous Polyposis | Hereditary Diffuse Gastric Cancer | Peutz-Jeghers Syndrome | Cowden Syndrome | Li Fraumeni Syndrome | MutYH-associated Polyposis | SMAD4 Gene Mutation

United Kingdom
National Cancer Institute (NCI)

Recruiting

Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia

Fanconi Anemia | Inherited Bone Marrow Failure Syndrome

United States
Brown University
Taiho Oncology, Inc.

Recruiting

TAS-116 Plus Palbociclib in Breast and Rb-null Cancer

Soft Tissue Sarcoma | Advanced Breast Cancer | SCLC | Bladder Cancer | Endometrial Cancer | Treatment-Refractory Solid Tumors | Retinoblastoma Deficiency

United States
Lei Li

Recruiting

Risk-Reducing Surgeries for Hereditary Ovarian Cancer

Colorectal Neoplasms, Hereditary Nonpolyposis | Hysterectomy | Hereditary Breast and Ovarian Cancer Syndrome | Ovariectomy

China
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

Clinical Trials on Acid SphingoMyelinase Deficiency

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Ecuador

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

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