Clinical Research Directory

Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism

Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers find ways to measure how well future treatments work. Objective: To learn more about SLOS and related disorders and how these diseases affect participants and relatives. Eligibility: People of any age who have or are suspected to have SLOS or another inherited disease related to cholesterol production or storage. Relatives are also needed. Design: Participants will be screened with a medical record review. Participants will have visits every 6 to 12 months. They will have a physical exam. They will fill out a survey about their medical and behavioral history. They may have an eye exam. They may have a neurodevelopmental assessment. They may have a hearing test. Their outer and middle ears may be examined. Their ability to speak, understand speech, eat, and swallow may be assessed. They may get X-rays while they chew and swallow. Their functional ability and needs for adaptive devices or braces may be assessed. They may have a lumbar puncture. Photographs may be taken of their face and body. Participants who cannot visit the NIH and relatives will have a virtual visit once a year. They will talk about their medical history and symptoms. They give blood, urine, and skin samples at a lab near their home. They will fill out a survey about their medical and behavioral history. Participation will last for several years.

Effects of Alexander Technique in Children With Upper Cross Syndrome.

This randomized clinical trial will involve 50 participants aged 13 to 16, recruited from Faisal Hospital Faisalabad and different schools nearby. Participants will be randomly assigned to either the Alexander Technique group, which will include home-based exercises supervised by parents, or a control group performing traditional posture-corrective exercises. The outcomes will be measured using tools such as the Cranio-Vertebral Angle (CVA), Shoulder Protraction Measurement (SPM), Thoracic Kyphotic Angle (TKA), and Visual Analogue Scale (VAS) for pain assessment. The findings are expected to provide insights into the benefits of the Alexander Technique as a therapeutic strategy for addressing UCS and improving overall health outcomes in adolescents. Data collection will be done before and after the intervention. Data will be analyzed through SPSS version 26.00.