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

National Institute of Child Health and Human Development (NICHD)

58 Protocols (29 Active Accrual of new subjects, 29 Follow-up of previously enrolled subjects)

 001681-CH:

Investigations of Individuals with MEHMO Syndrome or eIF2-Pathway Related Conditions

 001084-CH:

A Prospective Natural History Study of Lymphatic Anomalies

 001074-CH:

Characterization of Dysmorphology in Subjects with Creatine Transporter Deficiency

 001018-CH:

Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C

 000862-CH:

Pilot Study of the Use of Functional Near-Infrared Spectroscopy (fNIRS) Combined with Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls

 000849-CH:

Speckle Plethysmography Pulse Transit Time as a Marker of Blood Pressure Changes

 000740-CH:

A Phase 3 Open-label Extension Study to Evaluate the Long-term Safety and Tolerability of Chronocort in the Treatment of Participants Aged 16 Years and Over with Congenital Adrenal Hyperplasia

 000715-CH:

Biorepository in Participants Who Undergo OTC for Gonadotoxic Therapy

 000686-CH:

Intrathecal 2-Hydroxypropyl-Beta-Cyclodextrin for Neurological Decline in Patients with Niemann-Pick Disease Type C1

 000585-CH:

An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of CLN3 Disease in Patients 17 Years of Age and Older

 000487-CH:

Natural History Investigation into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism

 000310-CH:

A Phase 1/2, First-in-Human, Open-Label, Dose-Escalation Study of the Safety and Efficacy of Gene Therapy for Congenital Adrenal Hyperplasia through Administration of an Adeno-Associated Virus (AAV) Serotype 5-Based Recombinant Vector Encoding the Human

 000235-CH:

COLSIO Trial: Phase II Randomized, Controlled Trial of Colchicine to Suppress Inflammation and Improve Insulin Resistance in Adults and Adolescents with Obesity

 000224-CH:

Development of a Wearable Point of Care Monitoring Device for Pediatric Obstructive Sleep Apnea

 000106-CH:

Gonadal Tissue Freezing for Fertility Preservation in Individuals at risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy

 20-CH-0165:

Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals with Androgen Insensitivity

 20-CH-0126:

Data Collection Study of Pediatric and Adolescent Gynecology Conditions

 19-CH-0071:

An Open-Label Phase 3 Study of the Safety and Efficacy of Pegvisomant in Children with Growth Hormone Excess

 19-CH-0051:

Long-Term Follow-UP of Survivors of Pediatric Cushing Disease

 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-0002:

Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)

 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

 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

 02-CH-0311:

Investigations into Inborn Errors of Cholesterol Synthesis and Related Disorders

 00-CH-0093:

Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma

 97-CH-0076:

A Clinical and Genetic Investigation of Pituitary and HYPOTHALAMIC Tumors and Related Disorders

 001723-CH:

Protocol C614: An Open-Label Study of DCCR (Diazoxide Choline) Extended-Release Tablets in Patients with Prader-Willi Syndrome

 000414-CH:

Pilot Study of an Optic-to-Audio Device in a Pediatric Cohort with CLN3-related Conditions or Low Vision

 000297-CH:

A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Crinecerfont (NBI-74788) in Adult Subjects with Classic Congenital Adrenal Hyperplasia, Followed by Open-Label Treatment

 000241-CH:

Phase II Trial of Liraglutide (Saxenda(R), Novo Nordisk) in Adolescents with Obesity After Sleeve Gastrectomy: A Pilot Open-Label Study

 000137-CH:

Implications of Maternal 45,X Mosaicism As A Secondary Genomic Finding Following Cell-free DNA Sequencing During Pregnancy: A Deep Phenotype Study

 21-CH-0028:

A Pilot Study to Evaluate A Noninvasive Multimodal Biosensing Device for Screening and Monitoring Response to Treatment of Infectious Respiratory Diseases

 19-CH-0026:

Randomized, Double-Blind, Placebo-Controlled Study Plus Open Label Extension with a Double-Blind, Placebo-Controlled, Randomized Withdrawal Period of Diazoxide Choline Extended-Release Tablet (DCCR, Soleno Therapeutics, Inc.) in Participants with Prader-

 18-CH-0120:

A Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and the Genotype-Phenotype Correlation

 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-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) in the Treatment of Congenital Adrenal Hyperplasia

 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

 11-CH-0078:

Evaluation of Cortisol Resistance in Young Endurance-Trained and Elderly Men

 10-CH-0198:

Testing and Calibration of Non-Invasive Optical Imaging Technology for Functional Brain Imaging

 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

 05-CH-0037:

The Effects of Hydrocortisone, Melatonin, and Placebo on Symptoms of Jet Lag

 05-CH-0013:

Adrenal Function in Critical Illness

 04-CH-0077:

Investigations of Bone-Related Connective Tissue Disorders

 02-CH-0278:

Dyadic Interactions in Depressed and Non-Depressed Mothers with Their Infants

 00-CH-0160:

Clinical and Molecular Analysis of ACTH-Independent Steroid Hormone Production in Adrenocortical Tissue

 98-CH-0081:

Clinical and Basic Investigations into Smith-Lemli-Opitz 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

 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

 88-CH-0032:

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