National Institute of Child Health and Human Development (NICHD)s

National Institute of Child Health and Human Development (NICHD)

60 Protocols (35 Active Accrual of new subjects, 25 Follow-up of previously enrolled subjects)

Active Accrual, Protocols Recruiting New Patients 
* 19-CH-0051:
Long-Term Follow UP of Survivors of Pediatric Cushing Disease

* 19-CH-0028:
Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated with Niemann-Pick Disease, Type C1

* 19-CH-0026:
Randomized, Double-Blind, Placebo-Controlled Study Plus Open Label Extension of Diazoxide Choline Controlled-Release Tablet (DCCR, Soleno Therapeutics, Inc.) in Patients with Prader-Willi Syndrome

* 19-CH-0020:
A Phase 1-2 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children with Classic 21-Hydroxylase Deficiency

* 18-CH-0120:
A Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and the Genotype-Phenotype Correlation

* 18-CH-0031:
Clinical and Molecular Characteristics of Primary Aldosteronism in Blacks

* 18-CH-0002:
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)

* 18-CH-0001:
Mirror Neuron Network Dysfunction as an Early Biomarker of Neurodevelopmental Disorder

* 17-CH-0130:
Break It Up: A study evaluating breaking up daily sedentary behavior in youth

* 17-CH-0078:
Setmelanotide (RM-493; Rhythm Pharmaceuticals, Inc.) Phase 2 Open-Label Treatment Trials in Patients with Rare Genetic Disorders of Obesity

* 17-CH-0020:
Observational Study of Males with Creatine Transporter Deficiency(CTD)

* 17-CH-0014:
Pilot Study of Mobile Attention Training in Overweight Female Adolescents

* 16-CH-0164:
A Phase III Extension Study of Efficacy, Safety and Tolerability of Chronocort (Registered Trademark) in the Treatment of Congenital Adrenal Hyperplasia

* 16-CH-0125:
Evaluation of Adults with Endocrine-Related Conditions

* 16-CH-0113:
Evaluation of Children with Endocrine and Metabolic-Related Conditions

* 16-CH-0103:
Evaluation of Patients with Genetic Disorders

* 15-CH-0096:
Children's Growth and Behavior Study

* 15-CH-0022:
Genetic Causes of Growth Disorders

* 14-CH-0028:
Evaluation of 68Ga-DOTATATE PET/CT, Octreotide and F-DOPA PET Imaging in Patients with Ectopic Cushing Syndrome

* 13-CH-0097:
Fat Metabolism and Function Altering Polymorphisms in MC3R

* 12-CH-0050:
The Role of Gonadotropin Pulsations in the Regulation of Puberty and Fertility

* 12-CH-0049:
The Molecular Basis of Inherited Reproductive Disorders

* 10-CH-0198:
Testing and Calibration of Non-Invasive Optical Imaging Technology for Functional Brain Imaging

* 06-CH-0186:
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

* 06-CH-0011:
Natural History Study of Patients with Excess Androgen

* 04-CH-0250:
Event Related Potentials from Infancy to Adulthood Event Related Potentials from Infancy to Adulthood

* 04-CH-0077:
Screening and Diagnosis of Patients with Connective Tissue Disorders

* 02-CH-0311:
Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders

* 00-CH-0160:
Clinical and Molecular Analysis of ACTH-Independent Steroid Hormone Production in Adrenocortical Tissue

* 00-CH-0127:
Evaluation of Patients with Endocrine-Related Conditions

* 00-CH-0093:
Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma

* 99-CH-0103:
Evaluation of Women and Men with Endocrine and Reproductive-Related Conditions

* 98-CH-0081:
Clinical and Basic Investigations into Smith-Lemli-Opitz Syndrome

* 97-CH-0076:
A Clinical and Genetic Investigation of Pituitary and HYPOTHALAMIC Tumors and Related Disorders

* 95-CH-0059:
Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex, Peutz-Jeghers Syndrome and Related Conditions

Active Follow-up, Protocols NOT Recruiting New Patients 

* 19-CH-0083:
A 3-Month Phase 2 Study to Evaluate Safety and Efficacy of SPR001 in Subjects with Classic Congenital Adrenal Hyperplasia

* 16-CH-0150:
A Phase 2, Multicenter Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia

* 16-CH-0057:
A Phase III Study of Efficacy, Safety and Tolerability of Chronocort Compared with Standard Glucocorticoid Replacement Therapy in the Treatment of Congenital Adrenal Hyperplasia

* 16-CH-0016:
A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled Trial of VTS270 (2-hydroxypropyl-B-cyclodextrin) in Subjects with Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease

* 14-CH-0106:
Clinical Biomarkers in Alpha-Mannosidosis

* 13-CH-0112:
Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients with a Fragile Sarcolemmal Muscular Dystrophy

* 13-CH-0001:
Intrathecal 2-Hydroxypropyl-B-Cyclodextrin in Patients with Niemann-Pick Disease, Type C1

* 12-CH-0062:
Investigations into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy

* 11-CH-0208:
Effects of the Glucocorticoid Antagonist, Mifepristone, on Glucose Intolerance in Obese and Overweight Individuals

* 11-CH-0179:
Next Generation Sequencing to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

* 11-CH-0078:
Evaluation of Cortisol Resistance in Young Sedentary and Endurance-Trained Men and Elderly Sedentary Men

* 07-CH-0008:
Prospective, Open-Label, Multicenter, International Study of Mifepristone for Symptomatic Treatment of Cushing's Syndrome Caused by Ectopic Adrenal Corticotrophin Hormone (ACTH) Secretion

* 06-CH-0090:
Evaluation of Whether the Selective Progesterone Receptor Modulator CDB-2914 Can Shrink Leiomyomata

* 06-CH-0010:
Remodeling of Chromatin-Based Epigenetic Structures in Development and Aging

* 05-CH-0037:
The Effects of Hydrocortisone, Melatonin, and Placebo on Symptoms of Jet Lag

* 05-CH-0013:
Adrenal Function in Critical Illness

* 02-CH-0309:
The Diagnostic Performance of Screening Tests for the Diagnosis of Cushing's Syndrome

* 02-CH-0278:
Dyadic Interactions in Depressed and Non-Depressed Mothers and Their Infants

* 00-CH-0136:
A Trial of Pamidronate in Children with Osteogenesis Imperfecta

* 99-CH-0055:
New Imaging Modalities in the Evaluation of Patients with Ectopic Cushing's Syndrome

* 97-CH-0064:
Evaluation and Intervention for Ambulation, Growth, and Basilar Invagination in Osteogenesis Imperfecta

* 96-CH-0033:
An Open, Randomized, Long-Term Clinical Trial of Flutamide, Testolactone, and Reduced Hydrocortisone Dose vs. Conventional Treatment of Children with Congenital Adrenal Hyperplasia

* 92-CH-0034:
Studies of Growth Deficiency and Growth Hormone Treatment in Children with Osteogenesis Imperfecta Types III and IV

* 90-CH-0149:
Early Copper Histidine Therapy in Menkes Disease

* 88-CH-0032:
Specificity of Mother-Infant Interaction: The Influence of Maternal Age, Employment Status, and Parenthood Status