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Abnormalities, Multiple clinical trials

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NCT ID: NCT06465641 Not yet recruiting - Clinical trials for ADHD - Combined Type

Methylphenidate in KBG Syndrome: N-of-1 Series

KBGS_N_of_1
Start date: September 1, 2024
Phase: Phase 4
Study type: Interventional

The goal of this clinical trial] is to learn about the effect of methylphenidate in children and adolescents with KBG syndrome. The main question it aims to answer is: • What is the effectiveness of methylphenidate on attention deficit and ADHD-related symptoms in children and adolescents with KBG syndrome? Participants will receive multiple blocks of treatment with methylphenidate and placebo and fill out various questionnaires.

NCT ID: NCT05834621 Not yet recruiting - Family Members Clinical Trials

AMNIOmics: A Prenatal Rapid Genome Validation Study

Start date: June 2024
Phase:
Study type: Observational

The purpose of this study is to validate Whole Genome Sequencing (WGS) on amniotic fluid to reduce the time to diagnosis and enhance the care for the fetus/neonate.

NCT ID: NCT05666011 Not yet recruiting - Keratosis Pilaris Clinical Trials

Laser to Aid in Treatment of Keratosis Pilaris on Arms

Start date: March 20, 2023
Phase: N/A
Study type: Interventional

To assess efficacy and safety of intense pulsed light (IPL) activation of silver nanoparticles (SNA) versus IPL alone for treatment of keratosis pilaris.

NCT ID: NCT05657860 Recruiting - Obesity Clinical Trials

Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome

PWS-GXR
Start date: December 17, 2020
Phase: Phase 4
Study type: Interventional

This is a placebo-controlled clinical trial to assess whether Guanfacine Extended Release (GXR) reduces aggression and self injurious behavior in individuals with Prader Willi Syndrome (PWS). In addition, the study will establish the safety of GXR with a specific focus on metabolic effects.

NCT ID: NCT05577754 Recruiting - Clinical trials for Megalencephaly-capillary Malformation Polymicrogyria Syndrome (MCAP)

Assessment of the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-CApillary Malformation Polymicrogyria Syndrome (MCAP)

SESAM
Start date: November 28, 2022
Phase: Phase 2
Study type: Interventional

This study is a two periods multi-center Phase II trial, with a 6 months double-blind, placebo-controlled period followed by open label period, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP)

NCT ID: NCT05535517 Recruiting - Keratosis Pilaris Clinical Trials

Development and Validation of an Investigator Global Assessment Score for Keratosis Pilaris

Start date: August 13, 2022
Phase:
Study type: Observational

This validation study aims to develop a standardised investigator global assessment (IGA) score for keratosis pilaris and test the validity and reliability of the score through a one-day scoring exercise held at a private practice and compare it to a standard 0-4 IGA score specifically defined for keratosis pilaris.

NCT ID: NCT05318222 Completed - Clinical trials for Neurodevelopmental Disorders

Genetic Inclusion by Virtual Evaluation

GIVE
Start date: June 1, 2022
Phase: N/A
Study type: Interventional

This study aims to transform the current clinical practice paradigm by leveraging an internally designed web-based model of delivery of care called Consultagene to provide remote evaluation and genomic sequencing for improving genetic health of less resourced children with rare disorders living along the Texas-Mexico border.

NCT ID: NCT05033275 Recruiting - Clinical trials for Infant of Diabetic Mother

Screening for Sacral Agenesis in Offspring of Mothers With Diabetes in Pregnancy

Start date: May 1, 2021
Phase:
Study type: Observational

Babies born to mothers with pregestational diabetes will be screened with parental consent for sacral agenesis

NCT ID: NCT04797663 Completed - Keratosis Pilaris Clinical Trials

Long-pulsed 1064 nm Nd-YAG Laser Versus TCA 20% in Treatment of Keratosis Pilaris

Start date: March 17, 2021
Phase: Phase 4
Study type: Interventional

Keratosis pilaris (KP) is a common disorder of keratinization. There are different treatment modalities for KP with variable results. Nd:YAG laser and chemical peels are among these treatment modalities, however, there is no enough evidence in the literature regarding their efficacy. The aim of this study is to assess and compare the efficacy of long pulsed Nd:YAG laser and trichloreacetic acid 20% in treatment of keratosis pilaris.

NCT ID: NCT04722315 Active, not recruiting - Kabuki Syndrome Clinical Trials

Study of Modified Atkins Diet in Kabuki Syndrome

Start date: April 1, 2021
Phase: Early Phase 1
Study type: Interventional

Animal models of Kabuki syndrome have showed a reversal of the cognitive phenotype with ketogenic diet. Modified Atkins diet is safer and easier tolerated than full ketogenic diet and still has the histone deacetylase inhibition believed to be responsible for the cognitive improvement. This study aims to examine a small number of adults with Kabuki syndrome before and after 12 weeks on a modified Atkins diet to determine if there is any cognitive improvement and if the diet can be tolerated.