National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) — Biomedical Watch V2

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Traitements

8

Molécule	Indication / population	Phase	Objectif	Pays	Résultat
Gonadotropin-releasing Hormone Agonist (GnRHa) in Ovarian Preservation in SLE Subjects Receiving Cyclophosphamide as Determined by QuestionnairesBackground: Systemic lupus erythematosus (SLE) is a disease that affects females nine times more often than males. People with SLE are often treated with cyclophosphamide (CYC). But CYC can damage a woman s ovaries; it may cause infertility. A drug called GnRHa is sometimes given to protect the ovaries during CYC therapy. But no one really knows how effective GnRHa treatment is. This natural history survey will compare women who received GnRHa during CYC therapy with those who did not. Objective: To find out whether GnRHa can help protect women s ovaries during CYC. Eligibility: Women under age 40 years starting CYC treatment with or without GnRHa. Design: This study will do 2 things: It will conduct patient surveys. It will collect data from medical records. Participants will complete a one-time survey. They will answer questions about their menstrual cycle. They will be asked about their history of pregnancy or infertility. Participants can take the survey in 4 ways: On paper, sent through the mail. Online, in a secure web page managed by the NIH. By phone. In person, during a routine visit to the NIH clinic. The survey will take about 30 minutes. Participants medical records will be reviewed. Researchers will look for data about the participants SLE disease. This may include their symptoms and the results of their blood tests. It may also include the details of prior treatments. Researchers will also collect data about participants reproductive history. This may include their personal or family history of infertility. It may include any fertility treatments and any sexually transmitted infections.	Lupus	À vérifier	Traitement symptomatique	United States	À vérifier
MRA 003 USThis study will examine the safety and effects of the monoclonal antibody MRA in patients with systemic lupus erythematosus (SLE). Antibodies normally fight invading organisms. In autoimmune diseases, such as lupus, however, antibodies attack the body s own tissues. MRA is an antibody manufactured in the laboratory that blocks the action of interleukin-6 (IL-6), a substance that increases antibody production and is involved in inflammation that may cause organ damage in SLE. Patients 18 years of age and older with moderately active systemic lupus erythematosus may be eligible for this 6-month study. Candidates will be screened with blood and urine tests, chest X-ray, electrocardiogram (EKG), and screening tests for certain cancers. Participants will receive a total of up to seven infusions of MRA given every 2 weeks in the clinic. The MRA is infused over a period of about 1 hour through a catheter (thin plastic tube) inserted into an arm vein. Patients will be observed for 1 to 2 hours after each infusion for drug side effects. For the first and last infusions, patients will return to the clinic for blood tests 24 to 48 hours after the infusion. Additional tests may be done if medically indicated. Three different doses of MRA will be used in three groups of patients. The first group (4 patients) will receive the lowest dose. If this dose is well tolerated, a second group (6 patients) will receive a higher dose. If this dose is also well tolerated, a third group (6 patients) will receive the highest study dose. Patients will be evaluated at various intervals for up to 3 months after the last dose of MRA. The follow-up visits will include a review of the patient s medical history, a physical examination, blood and urine tests, and an EKG.	Lupus	Phase 1	Immunomodulation	United States	À vérifier
Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile DermatomyositisPurpose: The purpose of this protocol is 1. To comprehensively evaluate patients with autoinflammatory diseases clinically, genetically and immunologically at the autoinflammatory disease clinic at the NIH. 2. To follow patients with autoinflammatory Diseases that are genetically defined including Neonatal-Onset Multisystem Inflammatory Disease (NOMID), the most severe clinical phenotype of Cryopyrin-Associated Periodic Syndromes (CAPS), Deficiency of IL-1 Receptor Antagonist (DIRA), Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperatures (CANDLE), and STING-Associated Vasculopathy with onset in Infancy (SAVI), and those with genetically undefined autoinflammatory disorders to determine long-term disease outcomes. 3. To develop biomarkers that help us assess disease activity and response to treatment. 4. To assess the eligibility of affected patients for inclusion in ongoing and planned treatment protocols. Goal: The goals of our studies are to understand the underlying immune dysregulation, to identify the genetic cause and to translate our findings into novel treatments that improve patients disease outcome. Eligibility: * Patients with known NOMID/CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, and with other yet undifferentiated autoinflammatory diseases. * Healthy adult and pediatric relatives. * Volunteers Design: Participants will be evaluated at the NIH for 2-5 days. All participants will have a detailed medical history, physical exam, blood tests and other evaluations depending on the extend of their autoinflammatory disease. Participants may also expect the following assessments: 1. Clinical test that help assess organ damage and functional impact such as hearing vision, memory and learning tests. 2. Imaging studies to characterize the organ involvement of the inflammatory disease including: X-rays, CT scans, special MRIs, bone scans. 3. Laboratory evaluations including clinical markers of disease activity, research samples for genetic studies, and blood samples for cytokine/biomarker assessment, and gene expression profiling.\<TAB\> 4. Completion of questionnaires to assess disease activity and quality of life. 5. If indicated, other procedures may be administered that include: a lumbar puncture if CNS inflammation is suspected and a skin biopsy if skin inflammation is present. other gastrointestinal procedures as they are clinically indicated. 6. Patients my have a research skin biopsy taken. Participants may return for a single follow-up visits or for long term-follow up depending on their disease and willingness to be followed long-term. ...	Myopathies	À vérifier	Immunomodulation	United States	À vérifier
Study of Systemic Lupus ErythematosusThis protocol will evaluate patients with systemic lupus erythematosus (SLE) and their relatives to learn more about how the disease develops and changes over time. It will also study genetic factors that make a person susceptible to SLE. Patients 3 years of age and older with known or suspected SLE and their relatives may be eligible for this study. Patients will be evaluated with a medical history and physical examination, blood and urine tests. Other procedures may include: 1. Electrocardiogram 2. 24-hour urine collection 3. Imaging studies, such as chest and joint X-rays, magnetic resonance imaging (MRI) scans, bone scans, and bone densitometry. 4. Questionnaire about the degree of disease activity, and survey of risk factors for disease complications. 5. Apheresis-Collection of plasma (fluid portion of blood) or blood cells for analysis. Whole blood is collected through a needle in an arm vein. The blood circulates through a machine that separates it into its components. The required component (plasma or cells) is removed and the rest of the blood is returned to the body through the same needle or through a second needle in the other arm. 6. Skin biopsy-Removal of a small skin sample for microscopic analysis. An area of skin is numbed with an anesthetic and a small circular portion (about 1/4 inch in diameter) is removed, using a sharp cookie cutter-type instrument. 7. Kidney, bone marrow or other organ biopsy-Removal of a small sample of organ tissue. These biopsies are done only if they can provide information useful in better understanding the disease or making treatment decisions. 8. Genetic studies-Collection of a blood sample for gene testing. Patients will be followed at least once a year with a brief history and physical examination and routine blood and urine tests. Some patients may be seen more often. Treatment recommendations will be offered to patients' physicians, and patients who are eligible for other research treatment studies will be invited to enroll. Participating relatives of patients will fill out a brief medical history questionnaire and provide a DNA sample (either a blood sample or tissue swab from the inside of the cheek) for genetic testing.	Lupus	À vérifier	À vérifier	United States	À vérifier
MRA 003 USThis study will examine the safety and effects of the monoclonal antibody MRA in patients with systemic lupus erythematosus (SLE). Antibodies normally fight invading organisms. In autoimmune diseases, such as lupus, however, antibodies attack the body s own tissues. MRA is an antibody manufactured in the laboratory that blocks the action of interleukin-6 (IL-6), a substance that increases antibody production and is involved in inflammation that may cause organ damage in SLE. Patients 18 years of age and older with moderately active systemic lupus erythematosus may be eligible for this 6-month study. Candidates will be screened with blood and urine tests, chest X-ray, electrocardiogram (EKG), and screening tests for certain cancers. Participants will receive a total of up to seven infusions of MRA given every 2 weeks in the clinic. The MRA is infused over a period of about 1 hour through a catheter (thin plastic tube) inserted into an arm vein. Patients will be observed for 1 to 2 hours after each infusion for drug side effects. For the first and last infusions, patients will return to the clinic for blood tests 24 to 48 hours after the infusion. Additional tests may be done if medically indicated. Three different doses of MRA will be used in three groups of patients. The first group (4 patients) will receive the lowest dose. If this dose is well tolerated, a second group (6 patients) will receive a higher dose. If this dose is also well tolerated, a third group (6 patients) will receive the highest study dose. Patients will be evaluated at various intervals for up to 3 months after the last dose of MRA. The follow-up visits will include a review of the patient s medical history, a physical examination, blood and urine tests, and an EKG.	Lupus	Phase 1	Immunomodulation	United States	À vérifier
Study of Systemic Lupus ErythematosusThis protocol will evaluate patients with systemic lupus erythematosus (SLE) and their relatives to learn more about how the disease develops and changes over time. It will also study genetic factors that make a person susceptible to SLE. Patients 3 years of age and older with known or suspected SLE and their relatives may be eligible for this study. Patients will be evaluated with a medical history and physical examination, blood and urine tests. Other procedures may include: 1. Electrocardiogram 2. 24-hour urine collection 3. Imaging studies, such as chest and joint X-rays, magnetic resonance imaging (MRI) scans, bone scans, and bone densitometry. 4. Questionnaire about the degree of disease activity, and survey of risk factors for disease complications. 5. Apheresis-Collection of plasma (fluid portion of blood) or blood cells for analysis. Whole blood is collected through a needle in an arm vein. The blood circulates through a machine that separates it into its components. The required component (plasma or cells) is removed and the rest of the blood is returned to the body through the same needle or through a second needle in the other arm. 6. Skin biopsy-Removal of a small skin sample for microscopic analysis. An area of skin is numbed with an anesthetic and a small circular portion (about 1/4 inch in diameter) is removed, using a sharp cookie cutter-type instrument. 7. Kidney, bone marrow or other organ biopsy-Removal of a small sample of organ tissue. These biopsies are done only if they can provide information useful in better understanding the disease or making treatment decisions. 8. Genetic studies-Collection of a blood sample for gene testing. Patients will be followed at least once a year with a brief history and physical examination and routine blood and urine tests. Some patients may be seen more often. Treatment recommendations will be offered to patients' physicians, and patients who are eligible for other research treatment studies will be invited to enroll. Participating relatives of patients will fill out a brief medical history questionnaire and provide a DNA sample (either a blood sample or tissue swab from the inside of the cheek) for genetic testing.	Lupus	À vérifier	À vérifier	United States	À vérifier
Gonadotropin-releasing Hormone Agonist (GnRHa) in Ovarian Preservation in SLE Subjects Receiving Cyclophosphamide as Determined by QuestionnairesBackground: Systemic lupus erythematosus (SLE) is a disease that affects females nine times more often than males. People with SLE are often treated with cyclophosphamide (CYC). But CYC can damage a woman s ovaries; it may cause infertility. A drug called GnRHa is sometimes given to protect the ovaries during CYC therapy. But no one really knows how effective GnRHa treatment is. This natural history survey will compare women who received GnRHa during CYC therapy with those who did not. Objective: To find out whether GnRHa can help protect women s ovaries during CYC. Eligibility: Women under age 40 years starting CYC treatment with or without GnRHa. Design: This study will do 2 things: It will conduct patient surveys. It will collect data from medical records. Participants will complete a one-time survey. They will answer questions about their menstrual cycle. They will be asked about their history of pregnancy or infertility. Participants can take the survey in 4 ways: On paper, sent through the mail. Online, in a secure web page managed by the NIH. By phone. In person, during a routine visit to the NIH clinic. The survey will take about 30 minutes. Participants medical records will be reviewed. Researchers will look for data about the participants SLE disease. This may include their symptoms and the results of their blood tests. It may also include the details of prior treatments. Researchers will also collect data about participants reproductive history. This may include their personal or family history of infertility. It may include any fertility treatments and any sexually transmitted infections.	Lupus	À vérifier	Traitement symptomatique	United States	À vérifier
Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile DermatomyositisPurpose: The purpose of this protocol is 1. To comprehensively evaluate patients with autoinflammatory diseases clinically, genetically and immunologically at the autoinflammatory disease clinic at the NIH. 2. To follow patients with autoinflammatory Diseases that are genetically defined including Neonatal-Onset Multisystem Inflammatory Disease (NOMID), the most severe clinical phenotype of Cryopyrin-Associated Periodic Syndromes (CAPS), Deficiency of IL-1 Receptor Antagonist (DIRA), Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperatures (CANDLE), and STING-Associated Vasculopathy with onset in Infancy (SAVI), and those with genetically undefined autoinflammatory disorders to determine long-term disease outcomes. 3. To develop biomarkers that help us assess disease activity and response to treatment. 4. To assess the eligibility of affected patients for inclusion in ongoing and planned treatment protocols. Goal: The goals of our studies are to understand the underlying immune dysregulation, to identify the genetic cause and to translate our findings into novel treatments that improve patients disease outcome. Eligibility: * Patients with known NOMID/CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, and with other yet undifferentiated autoinflammatory diseases. * Healthy adult and pediatric relatives. * Volunteers Design: Participants will be evaluated at the NIH for 2-5 days. All participants will have a detailed medical history, physical exam, blood tests and other evaluations depending on the extend of their autoinflammatory disease. Participants may also expect the following assessments: 1. Clinical test that help assess organ damage and functional impact such as hearing vision, memory and learning tests. 2. Imaging studies to characterize the organ involvement of the inflammatory disease including: X-rays, CT scans, special MRIs, bone scans. 3. Laboratory evaluations including clinical markers of disease activity, research samples for genetic studies, and blood samples for cytokine/biomarker assessment, and gene expression profiling.\<TAB\> 4. Completion of questionnaires to assess disease activity and quality of life. 5. If indicated, other procedures may be administered that include: a lumbar puncture if CNS inflammation is suspected and a skin biopsy if skin inflammation is present. other gastrointestinal procedures as they are clinically indicated. 6. Patients my have a research skin biopsy taken. Participants may return for a single follow-up visits or for long term-follow up depending on their disease and willingness to be followed long-term. ...	Myopathies	À vérifier	Immunomodulation	United States	À vérifier

Essais cliniques

4

Molécule	Indication / population	Phase	NCT	Titre	Statut
Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis	Myopathies	À vérifier	NCT00059748	Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis	COMPLETED
Gonadotropin-releasing Hormone Agonist (GnRHa) in Ovarian Preservation in SLE Subjects Receiving Cyclophosphamide as Determined by Questionnaires	Lupus	À vérifier	NCT05567198	Gonadotropin-releasing Hormone Agonist (GnRHa) in Ovarian Preservation in SLE Subjects Receiving Cyclophosphamide as Determined by Questionnaires	RECRUITING
Study of Systemic Lupus Erythematosus	Lupus	À vérifier	NCT00001372	Study of Systemic Lupus Erythematosus	RECRUITING
MRA 003 US	Lupus	Phase 1	NCT00046774	Monoclonal Antibody Treatment for Systemic Lupus Erythematosus	COMPLETED

Publications

4

Molécule	Indication / population	Titre	Journal	Date
Study of Systemic Lupus Erythematosus		Integrated bioinformatics reveals tubulointerstitial immune microenvironment signatures and machine learning-driven prognostication of clinical treatment response in lupus nephritis.	Autoimmunity
Study of Systemic Lupus Erythematosus		Multi-cohort transcriptomic analysis with machine learning identifies interferon-related candidate genes in systemic lupus erythematosus.	Autoimmunity
MRA 003 US		Draft genome for the horse hair fungus, , isolated from cacao in Ghana.	Microbiology resource announcements
MRA 003 US		Whole genome sequence analysis of eight isolates from sugar beet factory juice and biofilms.	Microbiology resource announcements