Clinical Trials on Glycogenesis 2 Acid Maltase Deficiency

Total 352 results

AstraZeneca
Bristol-Myers Squibb

Completed

Risk Factors for Low Lymphocyte Count in Patients With Type 2 Diabetes

Diabetes Mellitus, Type 2
Sanofi
Pulse Infoframe Ltd.

Recruiting

A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)

Niemann-Pick Diseases | Acid Sphingomyelinase Deficiency

United States
Hospitales Universitarios Virgen del Rocío

Active, not recruiting

Humoral and Cellular Immunity Against SARS-COV-2 Vaccine in HIV-infected Patients Immunosuppressed

HIV Infection | SARS-CoV-2 RNA Vaccines

Spain
Clionsky Neuro Systems Inc.

Completed

COMPARATIVE EFFECTIVENESS OF MCI and DEMENTIA TREATMENTS IN A COMMUNITY-BASED DEMENTIA PRACTICE

Brain Injuries | Hypoxia | Parkinson's Disease | Anemia | TDP-43 Proteinopathies | Dementia | Tauopathies | Mild Cognitive Impairment | Iron Deficiency | Vitamin B 12 Deficiency | Frontotemporal Dementia | Vascular Dementia | Alzheimer's Disease | Neurodegenerative Disorders | TBI | Lewy Body Dementia | Hyperhomocysteinemia
National Institute for Medical Research, Tanzania

Unknown

Cash Transfer to Adolescent Girls and Young Women to Reduce Sexual Risk Behavior - an Impact Evaluation (CARE)

HIV/AIDS | HSV-2 Infection

Tanzania
Abdul Latif Jameel Poverty Action Lab
Innovations for Poverty Action

Completed

The Impact of VCT and Condom Distribution as HIV Prevention Strategies Among Youth in Kenya

HIV/AIDS | HSV-2 Infection
National Human Genome Research Institute (NHGRI)
National Institute of Allergy and Infectious Diseases (NIAID); National Institute...

Completed

Participation in a Research Registry for Immune Disorders

CGD | Wiskott-Aldrich Syndrome | Primary Immunodeficiencies | APECED | SCID

United States
Inozyme Pharma
Engage Health Inc.; GACI Global

Completed

Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency

Generalized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic Rickets Type 2

United States
Temple University
The Comprehensive NeuroAIDS Center (CNAC) at Temple University

Terminated

Liraglutide for HIV-associated Neurocognitive Disorder

HIV Infection | Obesity | Overweight | Metabolic Syndrome | Diabetes Mellitus Type 2

United States
Fundación Española de Hematología y Hemoterapía

Recruiting

PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD" (PREDIGA-2)

Niemann-Pick Diseases | Gaucher Disease | Splenomegaly | Acid SphingoMyelinase Deficiency | ASMD

Spain
Paul Szabolcs

Enrolling by invitation

Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases (BOLT+BMT)

Chronic Granulomatous Disease (CGD) | Wiskott-Aldrich Syndrome | Severe Chronic Neutropenia | Severe Combined Immunodeficiency (SCID) | Immunodeficiency With Predominant T-cell Defect, Unspecified | Hyper IgE Syndromes | Hyper IgM Deficiencies | Mendelian Susceptibility to Mycobacterial Disease | Common...

United States
State University of New York at Buffalo
National Center for Advancing Translational Sciences (NCATS)

Withdrawn

Pioglitazone and Insulin Resistance in ADT

Diabetes Mellitus, Type 2 | Insulin Resistance | Prostate Cancer | Androgen Deficiency

United States
Genzyme, a Sanofi Company

Terminated

Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)

Niemann-Pick Disease | Acid Sphingomyelinase Deficiency

United States
Applied Biology, Inc.
Hospital Universitario Ramon y Cajal

Withdrawn

In-vitro Diagnostic Test to Predict COVID-19 Mortality and Disease Severity

COVID-19 | SARS-CoV 2 | COVID | Androgenetic Alopecia | Androgen Deficiency | Androgen Receptor Abnormal

Spain
University of California, San Francisco
National Institutes of Health (NIH); Fogarty International Center of the National...

Completed

Thermocoagulation for Treatment of Precancerous Cervical Lesions

HPV Infection | Human Immunodeficiency Virus | CIN 2/3

Kenya
National Human Genome Research Institute (NHGRI)

Recruiting

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome (HPS)

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

Completed

Retrovirus Epidemiology Donor Study I (REDS I)

HIV Infections | Acquired Immunodeficiency Syndrome | Retroviridae Infections | Blood Transfusion | HIV-1 | Blood Donors | HIV-2 | HTLV-I | HTLV-II
Masonic Cancer Center, University of Minnesota

Recruiting

Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies

Common Variable Immunodeficiency | Chronic Granulomatous Disease | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | X-linked Lymphoproliferative Disease | Langerhan's Cell Histiocytosis | Chediak-Higashi Syndrome | Griscelli Syndrome | Bare Lymphocyte Syndrome | SCID | Omenn's Syndrome | Reticular... and other conditions

United States
Vanderbilt University
National Heart, Lung, and Blood Institute (NHLBI); University of South Florida and other collaborators

Completed

A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Hermansky Pudlak Syndrome

United States
Jesse Roman
Genentech, Inc.

Unknown

Efficacy and Safety of Pirfenidone Treatment in HPS-ILD (PEARL)

Interstitial Lung Disease | Hermansky Pudlak Syndrome

United States, Puerto Rico
National Institute of Allergy and Infectious Diseases...

Withdrawn

Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome

Colitis | Cytokines | Hermanski-Pudlak Syndrome | Lymphocytes | Drug Evaluation

United States
National Human Genome Research Institute (NHGRI)

Terminated

Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Pulmonary Fibrosis | Metabolic Disease | Oculocutaneous Albinism | Hermansky-Pudlak Syndrome (HPS) | Platelet Storage Pool Deficiency

United States
National Human Genome Research Institute (NHGRI)

Recruiting

Analysis of Specimens From Individuals With Pulmonary Fibrosis

Pulmonary Fibrosis | Healthy Volunteers | Hermansky-Pudlak Syndrome (HPS)

United States
William Gahl, M.D.
National Human Genome Research Institute (NHGRI)

Completed

Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome

Pulmonary Fibrosis | Inborn Errors of Metabolism | Albinism | Oculocutaneous Albinism | Platelet Storage Pool Deficiency

United States
Mayo Clinic

Recruiting

Prospective Research Rare Kidney Stones (ProRKS) (ProRKS)

Cystinuria | Hyperoxaluria | Dent Disease | Lowe Syndrome | Adenine Phosphoribosyltransferase Deficiency

United States, Canada, Iceland, Israel
Passage Bio, Inc.

Active, not recruiting

Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis (Imagine-1)

GM1 Gangliosidosis | GM1 Gangliosidosis, Type I | GM1 Gangliosidosis, Type 2 | Beta-Galactosidase-1 (GLB1) Deficiency

United States, Canada, United Kingdom, Turkey, Brazil
London North West Healthcare NHS Trust

Not yet recruiting

PSYLIVED: the Psychological Impacts of Living With an Inherited Colorectal Cancer Predisposition Syndrome (PSYLIVED)

Lynch Syndrome | Polyposis Syndrome, Hereditary Mixed, 1 | Polyposis Syndrome, Hereditary Mixed, 2

United Kingdom
Medical University of South Carolina
National Institute of Mental Health (NIMH); Muhimbili University of Health...

Completed

Impact of Integrated HIV/NCD Screening on HIV Testing Uptake and Engagement in HIV Care In Kisarawe, Tanzania

Hypertension | Diabetes Mellitus, Type 2 | Human Immunodeficiency Virus

Tanzania
Murdoch Childrens Research Institute
Royal Children's Hospital

Completed

What is the Incidence of an Immune Disorder in Children With Invasive Pneumococcal Disease (IPD)?

Primary Immunodeficiency | Invasive Pneumococcal Disease, Protection Against | Invasive Pneumococcal Disease, Recurrent Isolated, 1 | Invasive Pneumococcal Disease, Recurrent Isolated, 2

Australia, New Zealand
Gritstone bio, Inc.

Completed

Study of Self-Amplifying Messenger Ribonucleic Acid (samRNA) Vaccines Against COVID-19 in Healthy Adults and People Living With Human Immunodeficiency Virus (HIV)

COVID-19 | SARS-CoV-2

South Africa
Masonic Cancer Center, University of Minnesota

Recruiting

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

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
National Center for AIDS/STD Control and Prevention...
Sichuan Center for Disease Control and Prevention; Guizhou Center for Disease... and other collaborators

Unknown

Injecting Drug Use Community Intervention Trial

HIV Infections | Hepatitis C | HIV | HSV-2 | Syphilis

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

Completed

Retrovirus Epidemiology Donor Study-II (REDS-II)

HIV Infections | Acquired Immunodeficiency Syndrome | Retroviridae Infections | Hepatitis B | Hepatitis, Viral, Human | Blood Transfusion | HIV-1 | Blood Donors | Hepacivirus | HIV-2 | HTLV-I | HTLV-II | West Nile Virus
National Human Genome Research Institute (NHGRI)

Completed

Clinical and Pathophysiological Investigations Into Erdheim Chester Disease

Cancer | Myelofibrosis | Pulmonary Fibrosis | Gaucher Disease | Hermansky-Pudlak Syndrome (HPS)

United States
University Hospital, Basel, Switzerland
Bristol-Myers Squibb; Swiss National Science Foundation

Completed

Cardiovascular Risk Factor Management in HIV Infection

HIV Infection | Dyslipidemia | Coronary Heart Disease | Diabetes Mellitus, Non-Insulin-Dependent

Switzerland
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
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
Maastricht University Medical Center

Enrolling by invitation

Reproductive Options in Inherited Skin Diseases (REPRO-ISD)

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

Netherlands
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
Atara Biotherapeutics

Recruiting

A Study to Evaluate Tabelecleucel in Participants With Epstein-barr Virus-associated Diseases

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
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
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
White Plains Hospital

Active, not recruiting

Pancreatic Cancer Early Detection Program (PCEDP)

Pancreatic Cancer | Pancreatic Adenocarcinoma | Lynch Syndrome | Pancreas Cancer | HNPCC | Familial Pancreatic Cancer | Hereditary Pancreatitis | BRCA 1/2 | FAMMM | Familial Atypical Multiple Mole Melanoma | Peutz Jeghers Syndrome

United States
UK Kidney Association

Recruiting

National Registry of Rare Kidney Diseases (RaDaR)

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
OHSU Knight Cancer Institute
National Cancer Institute (NCI); Oregon Health and Science University

Recruiting

Identifying and Caring for Individuals With Inherited Cancer Syndrome

Malignant Solid Neoplasm | Lynch Syndrome | Hematopoietic and Lymphoid System Neoplasm | Breast Ductal Carcinoma In Situ | Hereditary Neoplastic Syndrome | BRCA1/2-Associated Hereditary Breast and Ovarian Cancer Syndrome

United States
Atara Biotherapeutics

No longer available

Expanded Access Protocol for Tabelecleucel for Patients With Epstein-Barr Virus-Associated Viremia or Malignancies

Lymphoproliferative Disorders | Stem Cell Transplant Complications | Epstein-Barr Virus (EBV) Infections | EBV+ Associated Lymphoma | EBV+ Associated Post-transplant Lymphoproliferative Disease (EBV+ PTLD) | Epstein-Barr Viremia | Lymphoma, AIDS-related | Epstein-Barr Virus-associated Lymphoproliferative... and other conditions
St. Jude Children's Research Hospital

Recruiting

Familial Investigations of Childhood Cancer Predisposition (SJFAMILY)

Pancreatic Cancer | Hodgkin Lymphoma | Lynch Syndrome | Tuberous Sclerosis | Fanconi Anemia | AML | Non Hodgkin Lymphoma | Familial Adenomatous Polyposis | Acute Leukemia | Nevoid Basal Cell Carcinoma Syndrome | Neurofibromatosis Type 1 | Neuroblastoma | Retinoblastoma | MDS | Rhabdomyosarcoma | Von Hippel-Lindau Disease | Adrenocortical Carcinoma and other conditions

United States
National Cancer Institute (NCI)

Terminated

Ibrutinib in Treating Relapsed or Refractory B-Cell Non-Hodgkin Lymphoma in Patients With HIV Infection

HIV Infection | Recurrent Adult Burkitt Lymphoma | Recurrent Adult Diffuse Large Cell Lymphoma | Recurrent Adult Diffuse Mixed Cell Lymphoma | Recurrent Adult Diffuse Small Cleaved Cell Lymphoma | Recurrent Adult Lymphoblastic Lymphoma | Recurrent Grade 1 Follicular Lymphoma | Recurrent Grade 2 Follicular... and other conditions

United States
Roswell Park Cancer Institute
National Cancer Institute (NCI)

Completed

Fludarabine Phosphate, Melphalan, Total-Body Irradiation, Donor Stem Cell Transplant in Treating Patients With Hematologic Cancer or Bone Marrow Failure Disorders

Primary Myelofibrosis | 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 | Recurrent... and other conditions

United States

Clinical Trials on Glycogenesis 2 Acid Maltase Deficiency

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Slovakia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

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