Clinical trials: Protein Deficiency
Antithrombin III Deficiency
Belgian Antithrombin Deficiency Registry
Inherited antithrombin deficiency is a rare autosomal dominant disorder that predisposes to the development of venous thromboembolism, even at young age.
- Trial name
- NCT05891899
- Testing
- observation
- Where
- Belgium
- Volunteers
- 1,000 people
- Sponsor
- Universitair Ziekenhuis Brussel
Nutrient Deficiency, Eating Behavior
The Effect of Early Childhood Cow's Milk Allergy Elimination Diet on Eating Behaviors, Nutrition, and Growth Status
Cow's milk allergy (CMA) is the most common Food Allergy (FA) in children, and the essential strategy in prevention is avoiding the allergens that may cause potentially life-threatening reactions.
- Conditions
- Nutrient Deficiency, Eating Behavior, Cow Milk Allergy, Growth Disorders
- Trial name
- NCT04576845
- Testing
- Survey
- Where
- Turkey (Türkiye)
- Volunteers
- 31 people
- Sponsor
- Saglik Bilimleri Universitesi
CDG Ib
Study of ORL-1M (D-mannose) in Patients With CDG-Ib
Study of ORL-1M in Patients With CDG-Ib
- Trial name
- NCT03404869
- Testing
- ORL-1M - D-mannose
- Where
- Turkey (Türkiye)
- Volunteers
- 5 people
- Sponsor
- Orpha Labs
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission
Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
This phase II trial studies how well fludarabine phosphate, cyclophosphamide, total body irradiation, and donor stem cell transplant work in treating patients with blood cancer.
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
- Trial name
- NCT03333486
- Testing
- Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Roswell Park Cancer Institute
WHIM, Warts
Base-Edited Hematopoietic Stem/Progenitor Cell Gene Therapy for Treatment of CXCR4-WHIM
Background: Warts, hypogammaglobulinemia, infections and myelokathexis syndrome (WHIMs) is a rare disorder that affects the immune system. People with WHIMs can have severe infections all over their body.
- Conditions
- WHIM, Warts, Hypogammaglobulinemia, Immunodeficiency
- Trial name
- NCT07775313
- Testing
- Busulfan, Palifermin, Plerixafor
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Peripheral Neuropathy, Mitochondrial Trifunctional Protein Deficiency
Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy
Purpose: People with a genetic defect in the ability to burn fat can also develop a problem with the nerves in their feet. The nerve problem, or neuropathy, can limit their ability to walk.
- Trial name
- NCT00840112
- Testing
- Vitamin E supplement
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Oregon Health and Science University
Hemophilia A
Study of Pharmacokinetics, Efficacy, and Safety of a Recombinant and Protein-Free Factor VIII (rAHF-PFM) in Pediatric Patients With Hemophilia A
The purpose of this study is to evaluate whether rAHF-PFM is effective and safe in the treatment of children with hemophilia A. The study consists of 2 parts.
- Trial name
- NCT00157040
- Testing
- Antihemophilic factor, recombinant, manufactured protein-free
- Where
- 12 sites in United States, Canada and 1 more
- Volunteers
- 50 people
- Sponsor
- Baxalta now part of Shire
Hypophosphatasia (HPP)
Extension Study of Protocol ENB-006-09 - Study of Asfotase Alfa in Children With Hypophosphatasia (HPP)
This clinical trial studies the long term safety and efficacy of asfotase alfa in children with HPP who completed Study ENB-006-09 (NCT00952484).
- Trial name
- NCT01203826
- Testing
- Asfotase Alfa
- Where
- 2 sites in United States, Canada
- Volunteers
- 12 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Epilepsy, GLUT1DS1
Treatment Development of Triheptanoin (G1D)
To determine the maximum tolerated dose (MTD), as a percentage of calories consumed, of triheptanoin (C7 oil; C7) in a pediatric and adult patient population genetically diagnosed with glucose transporter type 1 deficiency…
- Conditions
- Epilepsy, GLUT1DS1, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders
- Trial name
- NCT03041363
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Juan Pascual
Tuberculosis, HIV
Nutrition, Diabetes and Pulmonary TB/HIV
We propose a randomised trial among pulmonary TB patients, examined and treated as part of the national TB control programme (WHO, 2003). The aim is to improve TB treatment outcome in high TB and HIV burden countries.
- Conditions
- Tuberculosis, HIV, Diabetes
- Trial name
- NCT00311298
- Testing
- Multimicronutrients, Energy and proteins
- Where
- Tanzania
- Volunteers
- 1,250 people
- Sponsor
- University of Copenhagen
Factor X Deficiency
Safety & Efficacy of BPL's High Purity FACTOR X in Treatment of Factor X Deficient Subjects Undergoing Surgery
To primary efficacy variable is to assess the presence or absence of excessive blood loss during and after surgery. The secondary efficacy endpoints are as follows: 1.
- Trial name
- Ten03 (NCT01086852)
- Testing
- FACTOR X
- Where
- 7 sites in United States, Spain and 2 more
- Volunteers
- 4 people
- Sponsor
- Bio Products Laboratory
Hypogammaglobulinemia
Cytomegalovirus Hyperimmune Globulin (CMV-Ig) Replacement in Hypogammaglobulinemic Lung Transplant Recipients
This is a randomized controlled trial of CMV-Ig in lung transplant recipients at the Cleveland Clinic Foundation who are hypogammaglobulinemic.
- Trial name
- NCT00137748
- Testing
- CMV-Ig
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- The Cleveland Clinic
Von Willebrand Disease
Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients
To assess the efficacy of FVIII/VWF Complex (Human), Alphanate® as replacement therapy in preventing excessive bleeding in subjects with congenital Type 3 von Willebrand Disease (VWD) who undergo surgical procedures.
- Trial name
- NCT00555555
- Testing
- Alphanate SD/HT
- Volunteers
- 4 people
- Sponsor
- Grifols Biologicals, LLC
Myelokathexis, Infections
Plerixafor Versus G-CSF in the Treatment of People With WHIM Syndrome
Background: WHIMS (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome) is a rare disease. It can cause cancers, infections, and warts. Researchers want to see if a drug called plerixafor can treat WHIMS.
- Conditions
- Myelokathexis, Infections, Neutropenia, Warts
- Trial name
- NCT02231879
- Testing
- Plerixafor, G-CSF
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Immune System Diseases, Premature Infant Disease
Oral Colostrum and Its Effect on Immune System
The purpose of this project is to increase the serum immunological defenses of premature infants less then 32 weeks of gestation by administrating colostrum in the oropharyngeal mucosa versus placebo
- Conditions
- Immune System Diseases, Premature Infant Disease, Immunoglobulin Deficiency
- Trial name
- NCT03578341
- Testing
- Orally Colostrum
- Where
- 2 sites in Mexico
- Volunteers
- 96 people
- Sponsor
- Instituto Nacional de Perinatologia Isidro Espinosa de los Reyes
Hemophilia A
Study of Pharmacokinetics, Efficacy and Safety of a Recombinant and Protein-Free Factor VIII (rAHF-PFM) in Hemophilia A Patients - A Continuation of Clinical Study 069901
The purpose of this study is to evaluate whether rAHF-PFM is safe and effective in the treatment of hemophilia A subjects. The study consists of 2 parts: Part 1 is a pharmacokinetic and safety study, and Part 2 is an evaluation…
- Trial name
- NCT00157053
- Testing
- Antihemophilic factor, recombinant, manufactured protein-free
- Where
- 24 sites in United States, Austria and 7 more
- Volunteers
- 82 people
- Sponsor
- Baxalta now part of Shire
HIV Infections
A Phase I Study of the Safety and Pharmacokinetics of Recombinant CD4 Immunoglobulin G (rCD4-IgG) in Infants and Children With Documented HIV-1 Infection
To determine the safety profile, assess pharmacokinetic properties (blood levels), and obtain preliminary indication of the antiviral and immunologic effects of recombinant CD4 immunoglobulin G (CD4-IgG).
- Trial name
- NCT00000663
- Testing
- CD4-IgG
- Where
- 7 sites in United States
- Volunteers
- 18 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Respiratory Distress Syndrome, Newborn
Genetic Regulation of Surfactant Deficiency
Inherited deficiencies in any one of 3 genes (surfactant protein B, surfactant protein C, and ATP-binding cassette transporter A3) can cause neonatal respiratory distress syndrome by disrupting metabolism of the pulmonary…
- Trial name
- NCT00828243
- Testing
- Nutrient
- Where
- United States
- Volunteers
- 525 people
- Sponsor
- Washington University School of Medicine
IgA Deficiency
B-Lymphocyte Stimulator (BLyS) To Treat Selective IgA Deficiency
This study will examine the safety of BlyS, an experimental drug being developed to treat immune deficiency. As of July 17, 2001, 7 persons with common variable immune deficiency (CVID) have received BlyS, with no problems…
- Trial name
- NCT00024934
- Testing
- B-Lymphocyte Stimulator (BLyS)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Cancer Institute (NCI)
Ataxia Telangiectasia, ATM Gene Mutation
Effects of Vitamin B3 in Patients With Ataxia Telangiectasia
This clinical trial investigates the effects of nicotinamide riboside (vitamin B3) on the disease course of patients with ataxia telangiectasia.
- Trial name
- NCT03962114
- Testing
- Vitamin B3
- Where
- Netherlands
- Volunteers
- 24 people
- Sponsor
- Radboud University Medical Center