Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) — Biomedical Watch V2

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Traitements

4

Molécule	Indication / population	Phase	Objectif	Pays	Résultat
oCRHLentiginosis refers to groups of diseases marked by the presence of pigmented spots on the skin. These conditions are most commonly associated with multiple tumors and changes in hormone producing glands. The cause of these diseases is unknown, but researchers suggest there may be a level of inheritance involved in their development. Meaning to say that some of these diseases may "run in the family" and be passed down form generation to generation. Primary pigmented nodular adrenocortical disease (PPNAD) is a pituitary-independent, primary adrenal form of hypercortisolism characterized by; 1. Resistance to suppression by the drug dexamethasone 2. The body is unable to secrete cortisol in a normal rhythm 3. Distinct microscopic changes of both adrenal glands PPNAD can be associated with tumors (myxomas) of the skin, heart, breast, tumors (swannomas) of the nerve sheaths, pigmented spots (nevi and lentigines) of the skin, growth hormone (GH) producing tumors of the pituitary gland, and tumors of the testicles, ovaries, and thyroid gland. In the presence of these associations the condition is referred to as the Carney Complex. Presently there are no tests for screening of PPNAD and the Carney Complex. In addition, it is unknown how these conditions are genetically transferred from generation to generation. This study proposes to use standard methods of clinical testing for endocrine and nonendocrine diseases and genetic testing in order to; 1. Define the genetic basis for PPNAD and/or the Carney Complex. 2. Determine the molecular changes associated with the development of the tumors. 3. Identify carriers of the disease. 4. Determine the prognosis for carriers and affected individuals. 5. Provide sufficient data for genetic counseling of families with PPNAD and/or Carney Complex.\<TAB\>...	Maladie coronarienne	À vérifier	À vérifier	United States	À vérifier
Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular DystrophyBackground: \- Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions, the muscle membrane is more fragile. This affects how the muscles contract and relax, which causes movement problems. Researchers are looking at several muscle enzymes, or chemicals that affect how muscle cells function. By studying changes in these enzymes, they may be able to better understand how muscular dystrophy affects the cells. Researchers want to collect biomarkers (chemicals from blood samples) from people with fragile sarcolemmal muscular dystrophy. This information may provide better treatments for this condition. Objectives: \- To study biomarkers that may affect the muscles of people with fragile sarcolemmal muscular dystrophy. Eligibility: \- Individuals at least 18 years of age with fragile sarcolemmal muscular dystrophy. Design: * Participants will be screened with a medical history and physical exam. * Participants will be asked to come for four visits to the National Institutes of Health Clinical Center. The visits will be at least 2 months apart. Each visit will require participants to stay for 5 days at the clinical center. * During each visit, participants will provide frequent small blood samples. These samples will be collected while at rest and after physical exercise. * Participants will also have a physical therapy assessment. They will perform standard motor function tests and imaging tests (MRI, MRS). These tests may take up to 1 hour each time. * Treatment will not be provided as part of this study.	Myopathies	À vérifier	À vérifier	United States	À vérifier
Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular DystrophyBackground: \- Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions, the muscle membrane is more fragile. This affects how the muscles contract and relax, which causes movement problems. Researchers are looking at several muscle enzymes, or chemicals that affect how muscle cells function. By studying changes in these enzymes, they may be able to better understand how muscular dystrophy affects the cells. Researchers want to collect biomarkers (chemicals from blood samples) from people with fragile sarcolemmal muscular dystrophy. This information may provide better treatments for this condition. Objectives: \- To study biomarkers that may affect the muscles of people with fragile sarcolemmal muscular dystrophy. Eligibility: \- Individuals at least 18 years of age with fragile sarcolemmal muscular dystrophy. Design: * Participants will be screened with a medical history and physical exam. * Participants will be asked to come for four visits to the National Institutes of Health Clinical Center. The visits will be at least 2 months apart. Each visit will require participants to stay for 5 days at the clinical center. * During each visit, participants will provide frequent small blood samples. These samples will be collected while at rest and after physical exercise. * Participants will also have a physical therapy assessment. They will perform standard motor function tests and imaging tests (MRI, MRS). These tests may take up to 1 hour each time. * Treatment will not be provided as part of this study.	Myopathies	À vérifier	À vérifier	United States	À vérifier
oCRHLentiginosis refers to groups of diseases marked by the presence of pigmented spots on the skin. These conditions are most commonly associated with multiple tumors and changes in hormone producing glands. The cause of these diseases is unknown, but researchers suggest there may be a level of inheritance involved in their development. Meaning to say that some of these diseases may "run in the family" and be passed down form generation to generation. Primary pigmented nodular adrenocortical disease (PPNAD) is a pituitary-independent, primary adrenal form of hypercortisolism characterized by; 1. Resistance to suppression by the drug dexamethasone 2. The body is unable to secrete cortisol in a normal rhythm 3. Distinct microscopic changes of both adrenal glands PPNAD can be associated with tumors (myxomas) of the skin, heart, breast, tumors (swannomas) of the nerve sheaths, pigmented spots (nevi and lentigines) of the skin, growth hormone (GH) producing tumors of the pituitary gland, and tumors of the testicles, ovaries, and thyroid gland. In the presence of these associations the condition is referred to as the Carney Complex. Presently there are no tests for screening of PPNAD and the Carney Complex. In addition, it is unknown how these conditions are genetically transferred from generation to generation. This study proposes to use standard methods of clinical testing for endocrine and nonendocrine diseases and genetic testing in order to; 1. Define the genetic basis for PPNAD and/or the Carney Complex. 2. Determine the molecular changes associated with the development of the tumors. 3. Identify carriers of the disease. 4. Determine the prognosis for carriers and affected individuals. 5. Provide sufficient data for genetic counseling of families with PPNAD and/or Carney Complex.\<TAB\>...	Maladie coronarienne	À vérifier	À vérifier	United States	À vérifier

Essais cliniques

3

Molécule	Indication / population	Phase	NCT	Titre	Statut
oCRH	Maladie coronarienne	À vérifier	NCT00001452	Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex	COMPLETED
Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy	Myopathies	À vérifier	NCT01851447	Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy	ACTIVE_NOT_RECRUITING
baclofen	Myopathies	Phase 1	NCT00607542	Oral Baclofen Pharmacokinetics and Pharmacodynamics in Children With Spasticity	COMPLETED

Publications

0

Molécule	Indication / population	Titre	Journal	Date
Aucune publication.