Treatment Trials

66 Clinical Trials for Various Conditions

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COMPLETED
Ferumoxytol Enhanced Hyperfine Low Field Strength MRI
Description

The purpose of this pilot study is to evaluate the feasibility of using Ferumoxytol as a contrast agent on a low field strength, portable magnetic resonance imaging (MRI) system. Participants receiving Ferumoxytol as part of routine clinical care for iron deficiency anemia will be recruited and scanned on the Hyperfine MRI system before and after their clinically scheduled intravenous infusion. Resultant images will be compared to assess signal intensity changes generated by the presence of Feromoxytol.

COMPLETED
Phase II Study of High-Dose Cyclophosphamide in Patients With Severe Autoimmune Hematologic Disease
Description

OBJECTIVES: I. Determine the response rate and 1-year event-free survival in patients with severe autoimmune hematologic disease treated with high-dose cyclophosphamide.

RECRUITING
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Description

Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers want to learn more about what causes them and how to treat them. Objective: To learn more about factors that affect DPPMs by comparing test results from affected, uaffected family members, and healthy people. Eligibility: Three types of participants are needed: people aged 1 month and older with DPPMs; their family members who do not have DPPMs; and healthy volunteers. Design: Participants with DPPMs will come to the clinic once a year; some may be asked to come more often. At each visit, all affected participants will have a physical exam and give samples of blood, urine, saliva, and stool. Depending on their symptoms, they may also have other procedures, such as: Swabs of their skin and inside the mouth. Tests of their heart, kidney, brain, and nerve function. Questionnaires about what they eat. Dental exams, and exams of their hearing and vision. Tests of their learning ability. Monitoring of their physical activity. Imaging scans. Photographs of their face and body. These tests may be spread over up to 7 days. Affected participants may remain in the study indefinitely if they wish to. Healthy volunteers and family members will have 1 study visit. They will have a physical exam and may be asked to give blood, urine, saliva, and stool samples.

Conditions
AMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase DeficiencyAMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase DeficiencyTPMT, OMIM *187680, Thoipurines, Poor Metabolism ofIMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11APRT, OMIM *102600, Adenine Phosphoribosyltransferase DeficiencyHPRT1, OMIM *308000 Lesch-Nyhan DiseaseXDH, OMIM *607633, Xanthinuria Type 1SLC2A9, OMIM *606142 HypouricemiaSLC22A12, OMIM *607096 HypouricemiaPRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth DiseasePRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase SuperactivityAMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar HypoplasiaITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35ADSL, OMIM *608222, Adenylosuccinate Lyase DeficiencyPNP, OMIM *164050, Nucleoside Phosphorylase DeficiencyADA2, OMIM *607575,Sneddon Syndrome; VAIHSCAD, *1140120, Developmental and Epileptic EncephalopathyUPB1, OMIM *606673, Beta-ureidopropionase DeficiencyDPYS, OMIM *613326, Dihydropyrimidinase DeficiencyDPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase DeficiencyDHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis)UMPS, OMIM *613891, Orotic AciduriaNT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 DeficiencyUNG, OMIM *191525, Hyper-IgM Syndrome 5AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2Purine-Pyrimidine MetabolismMetabolic Disease
TERMINATED
Pyruvate Kinase (PK) Deficiency Global Longitudinal Registry: Patient-Reported Outcomes (PRO)
Description

The primary objective of this study is to understand and characterize the health-related quality of life (HRQoL) and disease burden of adult participants with PK deficiency receiving routine clinical care. This study is an observational (i.e., noninterventional), longitudinal, multicenter, global registry for participants with PK deficiency, a rare nonspherocytic hemolytic anemia. This study will be open for enrollment for 2 years and all enrolled participants will be followed prospectively for up to 96 weeks. Data will be collected from participants who have provided informed consent and authorization pursuant to applicable laws and regulations.

COMPLETED
Daily Vitamin D for Sickle-cell Respiratory Complications
Description

This study aims to answer the question whether daily oral vitamin D supplementation can reduce the risk of respiratory or lung complications in children and adolescents with sickle cell disease. Respiratory problems are the leading causes of sickness and of death in sickle cell disease. The investigators hypothesize that daily oral vitamin D3, compared to monthly oral vitamin D, will rapidly increase circulating vitamin D3, and reduce the rate of respiratory complications by 50% or more within the first year of supplementation in children and adolescents with sickle cell disease. This study is funded by the FDA Office of Orphan Products Development (OOPD).

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

Study AG348-C-007 was a multicenter study designed to evaluate the efficacy and safety of treatment with AG-348 in a minimum of 20, with up to 40, participants with pyruvate kinase (PK) deficiency, who were regularly receiving blood transfusions. The study was composed of two parts. During Part 1, Dose Optimization Period, participants started on a dose of 5 mg AG-348 administered twice daily. Over the course of Part 1 each participant's dose of AG-348 was sequentially increased to 20 mg twice a day, followed by 50 mg twice a day depending on their tolerance. During Part 2, Fixed-Dose Period, participants received AG-348 at their optimized dose from Part 1.

COMPLETED
A Study to Evaluate Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)
Description

Study AG348-C-006 evaluated the efficacy and safety of orally administered AG-348 as compared with placebo in participants with pyruvate kinase (PK) deficiency, who were not regularly receiving blood transfusions. Participants were randomized 1:1 to receive either AG-348 or a matching placebo.

COMPLETED
Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
Description

In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum effective dose required for reliable engraftment for subjects undergoing hematopoietic stem cell transplantation for non-malignant disease.

COMPLETED
SCD-PROMIS: A Software Platform to Enhance Self-efficacy and Patient-provider Engagement for Patients With Sickle Cell Pain
Description

The overall goal of the project is to reduce pain-related, 30-day readmission rates for sickle cell disease (SCD) patients. The investigators want to see if a mobile phone application (app) can help decrease the need for repeat admission to the hospital because of sickle cell pain.

COMPLETED
Sirolimus for Autoimmune Disease of Blood Cells
Description

Treatment for patients with autoimmune destruction of blood cells is poor. The part of the body that fights infections is called the immune system and white blood cells (WBCs) are part of the immune system. Normally, a person's body creates WBCs to fight infections and eliminates WBCs which have stopped helping the body function. Patients with autoimmune destruction of blood cells have difficulty eliminating old WBCs. The abnormal WBCs build up and can damage other healthy cells, which can lead to anemia, fatigue, jaundice, internal bleeding, infection, and cancer. Few effective medications exist for treatment for patients with autoimmune cytopenias and those commonly used are fraught with side effects. Nevertheless, as scientific understanding of autoimmune diseases has improved, more directed and less toxic therapies are becoming available. A number of groups have been studying the efficacy of a medication called sirolimus in patients with autoimmune diseases. This medicine has been FDA-approved for over 20 years. Sirolimus is a medicine used in children with other diseases. Sirolimus works, in part, by eliminating old and abnormal WBCs. Our group and others have shown that sirolimus is effective in mice with autoimmunity and in children with a rare condition called Autoimmune Lymphoproliferative Syndrome (ALPS). We believe sirolimus will help children with autoimmune cytopenias. We believe it will improve their symptoms and make them less sick. We propose to study sirolimus in children with chronic and/or refractory autoimmune cytopenias.

UNKNOWN
Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases
Description

OBJECTIVES: I. Determine whether there is prompt engraftment after autologous peripheral blood stem cell transplantation using filgrastim (G-CSF) mobilization in patients with life threatening autoimmune diseases. II. Determine the kinetics of T- and B-cell immune reconstitution after a combination of timed plasmapheresis, high dose cyclophosphamide and total lymphoid irradiation, and posttransplant immunosuppression with cyclosporine in these patients. III. Determine whether this treatment regimen beneficially influences the clinical course of these patients.

RECRUITING
The International PNH Interest Group PNH Registry
Description

The aim of this International PNH Interest Group (IPIG) registry is to develop an international database to prospectively collect data on patients with PNH covering clinical outcomes, patient reported outcomes (PROs), and health-resource utilization (HRU) on all enrolled patients, as well as long term safety data.

ENROLLING_BY_INVITATION
A Long-Term Follow-Up Study of Participants With Sickle Cell Disease or Transfusion Dependent β-Thalassemia Who Received EDIT-301
Description

The purpose of this study is to evaluate the long-term safety and efficacy of EDIT-301 in participants with severe sickle cell disease (SCD) or transfusion-dependent β-thalassemia (TDT) who have received EDIT-301.

NOT_YET_RECRUITING
A Safety, Efficacy, and Pharmacokinetic (PK) Study of HBI-002, an Oral Carbon Monoxide (CO) Therapeutic, in Subjects With Sickle Cell Disease (SCD)
Description

This is a multi-center, open label Phase 2a clinical trial in subjects with sickle cell disease to assess safety, tolerability, pharmacokinetics, and pharmacodynamics of HBI-002, an orally administered liquid containing carbon monoxide (CO), with doses daily for 14 days.

UNKNOWN
A Study of Pegcetacoplan in Pediatric Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH)
Description

The purpose of this study is to evaluate the safety, effectiveness, and biological activity (how the investigational medication is processed by the body) of pegcetacoplan in 12-17 year-olds (adolescents) who have paroxysmal nocturnal hemoglobinuria (PNH).

ACTIVE_NOT_RECRUITING
A Study Evaluating the Safety and Efficacy of EDIT-301 in Participants With Severe Sickle Cell Disease (RUBY)
Description

The purpose of this study is to evaluate the efficacy, safety and tolerability of treatment with EDIT-301 in adult and adolescent participants with severe sickle cell disease (SCD).

COMPLETED
A Study to Assess the Safety and Pharmacokinetics of HBI-002, an Oral Carbon Monoxide Therapeutic, in Healthy Volunteers
Description

This is a single center, open label Phase 1 clinical trial in normal adult subjects to assess safety, tolerability, pharmacokinetics, and pharmacodynamics of HBI-002, an orally administered liquid containing carbon monoxide (CO), with single ascending doses (SAD), followed by multiple dose with doses daily for 7 days.

RECRUITING
A Study of Obexelimab in Patients With Warm Autoimmune Hemolytic Anemia (SApHiAre)
Description

This study aims to examine the efficacy and safety of obexelimab in participants with Warm Autoimmune Hemolytic Anemia (wAIHA).

RECRUITING
A Study of Efficacy and Safety of Ianalumab in Previously Treated Patients With Warm Autoimmune Hemolytic Anemia
Description

The purpose of this study is to evaluate efficacy and safety of ianalumab compared to placebo in patients with warm autoimmune hemolytic anemia, who failed at least one line of treatment.

TERMINATED
Study of the Efficacy and Safety of Parsaclisib in Participants With Primary Warm Autoimmune Hemolytic Anemia
Description

The purpose of this study is to evaluate the efficacy and safety of parsaclisib compared with placebo in participants with Primary Warm Autoimmune Hemolytic Anemia (wAIHA),

COMPLETED
The Safety of Repurposing Daratumumab for Relapsed or Refractory Autoimmune Antibody Mediated Hemolytic Anemia
Description

A single-arm study utilizing a 6 x 4 expansion design using daratumumab SC treatment for patients with refractory Autoimmune Hemolytic Anemia.

ACTIVE_NOT_RECRUITING
Efficacy, Safety and Pharmacokinetics of Rilzabrutinib in Patients With Warm Autoimmune Hemolytic Anemia (wAIHA)
Description

All participants will receive rilzabrutinib orally. The screening period is up to 28 days, followed by a treatment period of 24 weeks for Part A. Participants who complete Part A and are deemed eligible for Part B can continue in the Core Part B period followed by an Extended Part B period for up to 253 weeks. There will be a 7-day safety follow-up period after receiving the last dose of study medication either in Part A (for those not eligible for Part B or early terminated) or Part B. In addition, each participant will be asked to attend an EOT-Core Part B visit when the last participant completes 52 weeks in Core Part B. The Extended Part B period will last for up to 253 weeks.

WITHDRAWN
Subcutaneous ALXN1830 in Adult Participants With Warm Autoimmune Hemolytic Anemia
Description

This is a Phase 2, multiple ascending, dose-finding, randomized, double-blind, placebo-controlled study to evaluate the efficacy, safety, health-related quality of life, tolerability, pharmacokinetic, pharmacodynamic, and immunogenicity, of up to 3 dose regimens of ALXN1830 administered subcutaneous(ly) (SC) in the treatment of WAIHA. This study will include 2 randomized, double-blind, placebo-controlled cohorts (Cohorts 1 and 2) to evaluate an 8-week treatment regimen, and an optional third open-label cohort (Cohort 3) to evaluate an alternative 12-week dosing regimen. Participants may continue participation in this study at the participant's and investigator's discretion in an open-label extension (OLE) period, consisting of monthly visits to observe participants for relapse, which will require going back on active treatment.

COMPLETED
Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ANX005 in Participants With Warm Autoimmune Hemolytic Anemia (wAIHA)
Description

This study will evaluate the safety and tolerability of ANX005 in participants with Warm Autoimmune Hemolytic Anemia (wAIHA).

TERMINATED
Safety, Pharmacokinetics, and Efficacy of Subcutaneous Isatuximab in Adults With Warm Autoimmune Hemolytic Anemia (wAIHA)
Description

Primary Objectives: * Part A: To evaluate the safety and tolerability of subcutaneous injections of isatuximab in adults with wAIHA * Part B: To evaluate the efficacy of the selected dose in adults with wAIHA Secondary Objectives: * Part A (Cohorts 2 and 3 only) * To evaluate the efficacy of isatuximab in adults with wAIHA * To evaluate the durability of response to isatuximab and time to response * To evaluate the impact of isatuximab treatment on fatigue Part B * To evaluate the safety and tolerability of isatuximab in adults with wAIHA * To evaluate the durability of response to isatuximab and time to response * To evaluate the impact of isatuximab treatment on fatigue Parts A (all Cohorts) and B * To evaluate the effect of isatuximab on markers of hemolysis * To characterize the pharmacokinetic profile of isatuximab in adults with wAIHA * To evaluate the immunogenicity of isatuximab

ACTIVE_NOT_RECRUITING
Acalabrutinib for the Treatment of Relapsed or Refractory Autoimmune Hemolytic Anemia in Patients With Chronic Lymphocytic Leukemia
Description

This phase II trial studies the effect of acalabrutinib in treating autoimmune hemolytic anemia that has come back (relapsed) or has not responded to previous treatment (refractory) in patients with chronic lymphocytic leukemia. Acalabrutinib may stop the growth of cancer cells by blocking some of the enzymes needed for cell growth.

WITHDRAWN
ALXN1830 in Patients With Warm Autoimmune Hemolytic Anemia
Description

The main objective of the study is to evaluate the safety and efficacy of ALXN1830 compared to placebo in adult participants with warm autoimmune hemolytic anemia (WAIHA).

TERMINATED
To Assess the Efficacy and Safety of RVT-1401 in the Treatment of Warm Autoimmune Hemolytic Anemia (ASCEND-WAIHA).
Description

This is a Phase 2 non-randomized, open-label study to investigate the efficacy, safety and tolerability of RVT-1401 in patients with Warm Autoimmune Hemolytic Anemia.

ENROLLING_BY_INVITATION
A Phase 3 Open Label Extension Study of Fostamatinib Disodium in the Treatment of Warm Antibody Autoimmune Hemolytic Anemia
Description

The primary objective of this study is: • To evaluate the long-term safety of fostamatinib in subjects with warm antibody autoimmune hemolytic anemia (wAIHA).

RECRUITING
Efficacy and Safety of M281 in Adults With Warm Autoimmune Hemolytic Anemia
Description

The main purpose of this study is to evaluate the efficacy and safety of M281 in participants with warm autoimmune hemolytic anemia (wAIHA).