Metabolic Screening in Patients With Donnai-Barrow Syndrome

A Registered Cohort Study on Charcot-Marie-Tooth Disease

NCT04010188 ·Status: RECRUITING

Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)

NCT04881201 ·Status: COMPLETED ·Phase: NA

Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques

NCT00829270 ·Status: COMPLETED

A Multicenter Observational Cohort of Degenerative Spine Diseases in China（DSDC）

NCT05867732 ·Status: COMPLETED

Analysis of DNA Methylation in Spondyloarthritis

NCT03092583 ·Status: COMPLETED ·Phase: NA

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

NCT01780168 ·Status: RECRUITING

Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study

NCT03550300 ·Status: UNKNOWN

Transcriptomic Study of Adult Population With Marfan Syndrome

NCT05700175 ·Status: RECRUITING

Evaluation and Treatment of Patients With Connective Tissue Disease

NCT00076830 ·Status: COMPLETED

Pain in Fibrous Dysplasia

NCT04125862 ·Status: COMPLETED ·Phase: NA

Longitudinal Biomarkers With Selected Outcome Measures In CMT

NCT06794489 ·Status: RECRUITING

Pediatric Metabolism and Microbiome Repository

NCT02959034 ·Status: COMPLETED

Early Vascular Wall Changes by Magnetic Resonance Imaging (MRI) in Metabolic Syndrome Versus Metabolically Normal Pre-Menopausal Women: A Pilot Study

NCT01068535 ·Status: UNKNOWN

Brain Network Connectivity of Patients With Metabolic Diseases

NCT06725589 ·Status: COMPLETED

Alterations in Protein Synthesis Rates of Burn Patients Measured Over Time Using PET Scans

NCT00253279 ·Status: UNKNOWN

Is There a Link Between Inflammation and Endocrinopathies in Turner Syndrome?

NCT05473091 ·Status: COMPLETED

MRS to Determine Neuroinflammation and Oxidative Stress in MPS I

NCT03576729 ·Status: COMPLETED

Multi-center Screening for Serum M Protein

NCT06750965 ·Status: NOT_YET_RECRUITING

Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers

NCT02596191 ·Status: ACTIVE_NOT_RECRUITING ·Phase: NA

Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease

NCT02504879 ·Status: RECRUITING

Gut Microbiota in Patients With Moyamoya Disease

NCT04890782 ·Status: UNKNOWN

ME/CFS: Activity Patterns and Autonomic Dysfunction

NCT02948556 ·Status: UNKNOWN

Evaluation of the Vulnerable Carotid Atherosclerotic Plaque: A Clinical Multicenter Study

NCT05849909 ·Status: UNKNOWN

Chronic Inflammation and Exercise Responsiveness

NCT02732509 ·Status: COMPLETED

Development and Validation of a Disability Severity Index for CMT

NCT01455623 ·Status: COMPLETED