Clinical trials: Maple Syrup Urine Disease
Relatives
A Smartphone Application of "Family Connections" to Relatives of People With Borderline Personality Disorder.
The aims of our study are the following: (a) testing the effectiveness of a combined intervention: "Family Connections" program with a smartphone app versus the same intervention supported by a paper-based manual, (b) studying…
- Trial name
- NCT05215392
- Testing
- Family Connections program
- Where
- Spain
- Volunteers
- 116 people, healthy volunteers welcome
- Sponsor
- Universitat Jaume I
Maple Syrup Urine Disease
Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD)
Maple Syrup Urine Disease (MSUD) is a disorder of protein metabolism that leads to neurological differences. It is an exciting time where people diagnosed with MSUD are living longer.
- Trial name
- NCT04828863
- Testing
- Neurocognitive testing
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Pregnancy, Phenylketonuria
Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria
The purpose of this project is to study the effectiveness of teaching teens and young women with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD) about their disease and nutrition related issues in a camp environment.
- Trial name
- NCT01659749
- Testing
- Metabolic camp
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Emory University
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Relatives
"Family Connections": a Program for Relatives of People With Borderline Personality Disorder
The aim of this study is to validate an intervention for relatives of people with borderline personality disorder in Spanish population in a randomized control trial.
- Trial name
- NCT04160871
- Testing
- Family Connections, Treatment As Usual
- Where
- Spain
- Volunteers
- 124 people, healthy volunteers welcome
- Sponsor
- Universitat Jaume I