Clinical Trials on Congenital Sucrase-isomaltase Deficiency in United Kingdom

Total 203 results

QOL Medical, LLC

Completed

Adult Pilot Study for Reference Ranges and Optimal Cut-offs for the Sucrose Challenge Test and Sucrose Breath Test

Congenital Sucrase-Isomaltase Deficiency

United States
QOL Medical, LLC

Recruiting

7-Day Trial of Sucraid for Alleviating CSID Symptoms in Subjects With Low, Moderate, and Normal Sucrase Levels

Congenital Sucrase-Isomaltase Deficiency | CSID | Sucrase Isomaltase Deficiency

United States
QOL Medical, LLC
Johns Hopkins University; Massachusetts General Hospital; Baylor College of Medicine and other collaborators

Completed

Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS) (CSID GPS)

Congenital Sucrase-isomaltase Deficiency (CSID)

United States
Novo Nordisk A/S

Completed

Safety and Pharmacokinetics of Recombinant Factor XIII in Healthy Volunteers

Healthy | Congenital Bleeding Disorder | Congenital FXIII Deficiency

United Kingdom
Novo Nordisk A/S

Completed

Safety and Pharmacokinetics of Recombinant Factor XIII Administration in Healthy Volunteers

Healthy | Congenital Bleeding Disorder | Congenital FXIII Deficiency

United Kingdom
Novo Nordisk A/S

Completed

Comparison of a Blood Clotting Drug (Recombinant Factor XIII) Produced by Two Different Manufacturers in Healthy Male Subjects

Healthy | Congenital Bleeding Disorder | Congenital FXIII Deficiency

United Kingdom
Centers for Disease Control and Prevention

Completed

Limb Loss Self-Management Program

Congenital or Acquired Limb Deficiency

United States
Kyowa Hakko Kirin UK, Ltd.

Completed

A Study of KW-3357 in Congenital Antithrombin Deficiency

Congenital Antithrombin Deficiency

France, Germany, Italy, Sweden, United Kingdom
Novo Nordisk A/S

Completed

Safety and Efficacy of Monthly Replacement Therapy With Recombinant Factor XIII (rFXIII) in Paediatric Subjects With Congenital Factor XIII A-subunit Deficiency (mentor™5)

Congenital Bleeding Disorder | Congenital FXIII Deficiency

United Kingdom, Israel, United States
Agios Pharmaceuticals, Inc.

Terminated

Pyruvate Kinase (PK) Deficiency Global Longitudinal Registry: Patient-Reported Outcomes (PRO) (PKD)

Anemia | Anemia, Hemolytic | Pyruvate Kinase Deficiency | Pyruvate Kinase Deficiency Anemia

United States, United Kingdom, Italy, Spain, Netherlands
Novo Nordisk A/S

Completed

Safety of a Single Intravenous Dose of Recombinant Factor XIII in Children With Congenital FXIII A-subunit Deficiency (mentor™4)

Congenital Bleeding Disorder | Congenital FXIII Deficiency

United States, Israel, United Kingdom
Rhythm Pharmaceuticals, Inc.

Completed

Setmelanotide in Pediatric Patients With Rare Genetic Diseases of Obesity

Bardet-Biedl Syndrome | POMC Deficiency Obesity | PCSK1 Deficiency Obesity | LEPR Deficiency Obesity

United States, Australia, Spain, United Kingdom
Imperial College London

Terminated

Iron Deficiency and Hereditary Haemorrhagic Telangiectasia

Hereditary Haemorrhagic Telangiectasia

United Kingdom
Octapharma

Recruiting

Efficacy of Atenativ in Patients With Congenital Antithrombin Deficiency Undergoing Surgery or Delivery

Congenital Antithrombin Deficiency

Spain, Italy, United States, Serbia, France, Hungary, Austria, Germany, United Kingdom, Israel
Novo Nordisk A/S

Completed

Use of rFXIII in Treatment of Congenital FXIII Deficiency, a Prospective Multi-centre Observational Study (mentor™6)

Congenital Bleeding Disorder | Congenital FXIII Deficiency

Spain, United States, Canada, Italy, United Kingdom, Hungary
rEVO Biologics

Completed

Assess Incidence of Deep Vein Thrombosis(DVT)Following Administration of Recombinant Human Antithrombin (rhAT) to Hereditary Antithrombin(AT) Deficient Patients in High Risk Situations. (rhAT)

Antithrombin Deficiency, Congenital

France, United Kingdom, Germany, United States, Sweden, Italy
Octapharma

Completed

Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/Riastap

Congenital Fibrinogen Deficiency | Afibrinogenemia

Iran, Islamic Republic of, United States, Bulgaria, India, Switzerland, United Kingdom
Guy's and St Thomas' NHS Foundation Trust
King's College London; Newcastle University; University of Cambridge

Completed

XPAND Trial: Enhancing XP Photoprotection Activities - New Directions (XPAND)

Xeroderma Pigmentosum

United Kingdom
University of Minnesota

Recruiting

Treatment of LSCD With DM

Limbal Stem-cell Deficiency | Congenital Aniridia

United States
Northwestern University

Completed

The Effects of Metreleptin in Congenital Leptin Deficiency

Congenital Leptin Deficiency (Disorder)

United States
Maggie's Pearl, LLC

Active, not recruiting

Oral Epalrestat Therapy in Pediatric Subjects With PMM2-CDG

Pmm2-CDG | Phosphomannomutase 2 Deficiency | Phosphomannomutase 2 Congenital Disorder of Glycosylation | Phosphomannomutase II Congenital Disorder of Glycosylation | Phosphomannomutase II Deficiency

United States
dr. Laura C. G. de Graaff-Herder

Not yet recruiting

Growing up With the Young Endocrine Support System (YESS!) (YESS)

Congenital Adrenal Hyperplasia | Hypogonadotropic Hypogonadism | Growth Hormone Deficiency | Turner Syndrome | Addison's Disease | Klinefelter Syndrome | Combined Pituitary Hormone Deficiency | Androgen Insensitivity Syndrome | Thyroid Dysgenesis

Spain, United Kingdom, Belgium, Netherlands
Octapharma

Completed

Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After Surgery

Congenital Fibrinogen Deficiency

United States, Bulgaria, India, Iran, Islamic Republic of, Lebanon, Russian Federation, Saudi Arabia, Turkey, United Kingdom
Agios Pharmaceuticals, Inc.

Active, not recruiting

A Study to Evaluate the Efficacy and Safety of Mitapivat in Pediatric Participants With Pyruvate Kinase Deficiency (PKD) Who Are Regularly Transfused, Followed by a 5-Year Extension Period (ACTIVATE-KidsT)

Pediatric Pyruvate Kinase Deficiency | Pediatric Hemolytic Anemia

United States, Spain, Denmark, Turkey, Netherlands, Czechia, United Kingdom, Germany, Canada, Switzerland
University of Alabama at Birmingham

Completed

Feasibility, Acceptability and Directional Signal Effect on Blood Folate Levels of Iodized Salt Fortified With Folic Acid: Clinical Study (FASALT)

Folic Acid Deficiency | Neural Tube Defects | Fortification

United States
Bellicum Pharmaceuticals

Terminated

Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant

Lymphoma, Non-Hodgkin | Acute Lymphoblastic Leukemia | Primary Immunodeficiency | Anemia, Sickle Cell | Hemoglobinopathies | Fanconi Anemia | Anemia, Aplastic | Myelodysplastic Syndrome | Thalassemia | Cytopenia | Diamond Blackfan Anemia | Osteopetrosis | Leukemia, Acute Myeloid (AML), Child

United Kingdom, Italy
Novo Nordisk A/S

Completed

Safety of Monthly Recombinant Factor XIII Replacement Therapy in Subjects With Congenital Factor XIII Deficiency: An Extension to Trial F13CD-1725 (mentor™2)

Congenital Bleeding Disorder | Congenital FXIII Deficiency

France, United States, Israel, Spain, Switzerland, Germany, Canada, Japan, United Kingdom, Italy, Finland, Austria
Cure CMD
Congenital Muscle Disease International Registr

Withdrawn

LAMA2-related Muscular Dystrophy Brain Study

LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)

United States
Agios Pharmaceuticals, Inc.

Completed

A Study Evaluating the Efficacy and Safety of AG-348 in Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)

Anemia, Hemolytic | Pyruvate Kinase Deficiency

United States, United Kingdom, Netherlands, Canada, Denmark, France, Italy, Ireland, Thailand
Agios Pharmaceuticals, Inc.

Active, not recruiting

A Study of AG-348 in Adult Participants With Pyruvate Kinase (PK) Deficiency

Pyruvate Kinase Deficiency

United States, Canada, Netherlands, United Kingdom, France, Italy
Hydrocephalus and Neuroscience Institute

Completed

Salt-FA to Increase Folate Levels

Folic Acid Deficiency | Neural Tube Defects | Spina Bifida | Anencephaly-Spina Bifida

United States
Haukeland University Hospital
Karolinska Institutet; University Hospitals Bristol and Weston NHS Foundation... and other collaborators

Completed

Dynamic Hormone Diagnostics in Endocrine Disease (ultradian)

Congenital Adrenal Hyperplasia | Acromegaly | Growth Hormone Deficiency | Cushing Syndrome | Primary Hyperaldosteronism | Adrenal Insufficiency

Norway, Sweden, Greece, United Kingdom
Jerry Vockley, MD, PhD
Ultragenyx Pharmaceutical Inc

No longer available

Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism

Barth Syndrome | Mitochondrial Trifunctional Protein Deficiency | Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency | Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2) | Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency | Glycogen Storage Disorders | Pyruvate Carboxylase Deficiency... and other conditions

United States
DNage B.V.

Terminated

Observational Study to Assess Natural History in Cockayne Syndrome Patients

Cockayne Syndrome

United States, France, United Kingdom
Boston Children's Hospital

Terminated

Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita

Fanconi Anemia | Dyskeratosis Congenita

United States
Prometic Biotherapeutics, Inc.

Completed

A Study of Prometic Plasminogen IV Infusion in Subjects With Hypoplasminogenemia

Hypoplasminogenemia | Congenital Plasminogen Deficiency

United States, Norway
Emory University
Children's Healthcare of Atlanta

Terminated

Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation

Sickle Cell Disease | Fanconi Anemia | Thalassemia | Severe Congenital Neutropenia | Wiskott-Aldrich Syndrome | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Glanzmann Thrombasthenia | Leukocyte Adhesion Deficiency | Dyskeratosis-congenita | Chediak-Higashi Syndrome | Chronic-granulomatous Disease | Schwachman-Diamond...

United States
Eva Morava-Kozicz
Children's Hospital of Philadelphia; Seattle Children's Hospital

Not yet recruiting

A Study of GlcNAc on Tear Production in NGLY1-CDDG

NGLY1 Deficiency

United States
Novo Nordisk A/S

Completed

Evaluation of Recombinant Factor XIII for Prevention of Bleeding in Patients With FXIII Inherited Deficiency

Congenital Bleeding Disorder | Congenital FXIII Deficiency

United States, Israel, Austria, Spain, Switzerland, Germany, Canada, France, United Kingdom, Italy, Finland
University of Alabama at Birmingham
Grifols Biologicals, LLC

Completed

Post-bypass Prophylactic IVIG in Infants and Neonates

Congenital Heart Disease | Hypogammaglobulinemia

United States
Rhythm Pharmaceuticals, Inc.

Completed

Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Patients With Specific Gene Defects in the MC4R Pathway

Bardet-Biedl Syndrome | POMC Deficiency

Netherlands, United States, Germany, Canada, Puerto Rico, United Kingdom
Merck KGaA, Darmstadt, Germany
Merck Serono S.A., Geneva

Completed

First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study

Turner Syndrome | Idiopathic Growth Hormone Deficiency

Spain, France, Canada, United Kingdom, Czech Republic, Argentina, Germany, Italy, Sweden
University of Mississippi, Oxford

Completed

Metabolism and Pharmacokinetics of Primaquine Enantiomers in Human Volunteers Receiving a Seven Day Dose Regimen

Malaria | Glucose 6 Phosphate Dehydrogenase Deficiency

United States
Novo Nordisk A/S

Completed

Safety and Pharmacokinetics of Recombinant Factor XIII in Patients With Congenital Factor Xlll Deficiency

Congenital Bleeding Disorder | Congenital FXIII Deficiency

United States
University of California, San Francisco

Completed

Study of Thiotepa and TEPA Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant Patients

Sickle Cell Disease | Hemoglobinopathies | Fanconi Anemia | Thalassemia | Hematologic Malignancies | Immune Deficiency | Nonmalignant Diseases | Genetic Inborn Errors of Metabolism

United States
Novo Nordisk A/S

Completed

Treatment of Congenital Factor VII Deficiency (F7CONDEF)

Congenital Bleeding Disorder | Congenital FVII Deficiency

Slovakia, Israel, Spain, India, Iran, Islamic Republic of, Pakistan, Turkey, Germany, Serbia, Italy, Greece, Thailand, France, United States, Hong Kong, Venezuela
Emory University

Completed

Bone Marrow Transplant With Abatacept for Non-Malignant Diseases

Sickle Cell Disease | Fanconi Anemia | Hurler Syndrome | Chronic Granulomatous Disease | Severe Congenital Neutropenia | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Glanzmann Thrombasthenia | Shwachman-Diamond Syndrome | Thalassemia Major | Leukocyte... and other conditions

United States
Inozyme Pharma
IQVIA Biotech

Active, not recruiting

Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ABCC6 Deficiency Causing PXE

Pseudoxanthoma Elasticum | Generalized Arterial Calcification of Infancy | ATP-Binding Cassette Subfamily C Member 6 Deficiency

United States, United Kingdom
Gary M Brittenham, MD

Active, not recruiting

Daily Vitamin D for Sickle-cell Respiratory Complications (ViDAS-2)

Respiratory Tract Infections | Respiratory Tract Diseases | Respiration Disorders | Lung Diseases | Nutrition Disorders | Vitamin D Deficiency | Asthma | Sickle Cell Disease | Anemia, Sickle Cell | Anemia, Hemolytic, Congenital | Acute Chest Syndrome | Deficiency Diseases Vitamin

United States
Columbia University
New York Blood Center

Completed

Effect of G6PD Deficiency on Red Blood Cell Storage

G6PD Deficiency

United States

Clinical Trials on Congenital Sucrase-isomaltase Deficiency in United Kingdom

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