Clinical trials: Maple Syrup Urine Disease
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
Phenylketonurias, PKU
Evaluation of the Express Plus Range
A prospective, open label, acceptability study to evaluate PKU, MSUD, HCU, TYR and GA express plus in the dietary management of 40 patients with IEM.
- Conditions
- Phenylketonurias, PKU, Homocystinuria, Maple Syrup Urine Disease
- Trial name
- express plus (NCT05051657)
- Testing
- PKU express plus
- Where
- 6 sites in United Kingdom
- Volunteers
- 28 people
- Sponsor
- Vitaflo International, Ltd
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
Borderline Personality Disorder
Magnetic Seizure Therapy for the Treatment of Borderline Personality Disorder
Suicide is a major public health crisis for which effective new interventions are needed. An innovative new brain stimulation technique called magnetic seizure therapy (MST) shows promise for treating suicidal thinking in…
- Trial name
- NCT03361826
- Testing
- MagPro MST with Cool TwinCoil, DBT
- Where
- Canada
- Volunteers
- 27 people
- Sponsor
- Centre for Addiction and Mental Health
Urea Cycle Disorder, Propionic Aciduria
MyRareDiet A Novel Diet Tracking Tool
The investigators propose to develop and validate MyRareDiet® (MRD) to address an unmet need in the inborn errors of metabolism (IEM) population to assist with dietary management designed to increase adherence and compliance to…
- Conditions
- Urea Cycle Disorder, Propionic Aciduria, Maple Syrup Urine Disease, Methylmalonic Acidemia
- Trial name
- MRD (NCT06664840)
- Testing
- MDR diet assessment, 24 hour recall
- Volunteers
- 60 people
- Sponsor
- Oregon Health and Science University
Maple Syrup Urine Disease
Liquid Valine and Isoleucine in Maple Syrup Urine Disease
This is a prospective, observational research study in 5 children with Maple Syrup Urine Disease (MSUD). Subjects who are currently taking a valine and isoleucine supplement for MSUD will be recruited for a 56 day trial, of a new…
- Trial name
- NCT06581991
- Testing
- Valine oral solution (50mg/ml) and isoleucine oral solution (25mg/ml)
- Volunteers
- 5 people
- Sponsor
- Meta Healthcare Ltd
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
Tyrosinemia, Type I, Tyrosinemia, Type II
Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of Zero minis, a range of protein substitute tablets for use in the dietary management of children with either TYROSINAEMIA…
- Conditions
- Tyrosinemia, Type I, Tyrosinemia, Type II, Tyrosinemia, Type III, Alkaptonuria
- Trial name
- ZeroMinisMR (NCT06298292)
- Testing
- Zero minis (range of protein substitutes in tablet form)
- Volunteers
- 15 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Urea Cycle Disorder, Organic Acidemia
Systemic Biomarkers of Brain Injury From Hyperammonemia
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and…
- Conditions
- Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I
- Trial name
- NCT04602325
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's National Research Institute
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
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
Inborn Errors of Metabolism, Urea Cycle Disorder
Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting…
- Conditions
- Inborn Errors of Metabolism, Urea Cycle Disorder, Maple Syrup Urine Disease, Phenylketonurias
- Trial name
- MetaPROM (NCT04248062)
- Testing
- Survey
- Where
- Switzerland
- Volunteers
- 69 people
- Sponsor
- University Children's Hospital, Zurich
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
Maple Syrup Urine Disease
Phenylbutyrate Therapy for Maple Syrup Urine Disease
The investigators have learned in past research that the drug phenylbutyrate can decrease the amounts of branched chain amino acids and their byproducts in the bloodstreams of healthy volunteer patients and also patients with…
- Trial name
- MSUD (NCT01529060)
- Testing
- Phenylbutyrate
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Brendan Lee
Childhood Aggression
Adapting Dialectical Behavior Therapy for Children in Residential Care
I: Conduct Pilot Randomized Clinical Trial of Dialectical Behavior Therapy for children (DBT-C) in residential as compared with Treatment-As-Usual (TAU) (60 children in DBT-C and 60 children in the comparison condition).
- Trial name
- DBT-C (NCT01547052)
- Testing
- DBT for children, Enhanced Supportive-Educational therapy
- Where
- United States
- Volunteers
- 47 people
- Sponsor
- Weill Medical College of Cornell University