Clinical trials: Galactosemia
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
Galactosemia
Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
Newborn screening and a galactose-free diet have improved early outcomes in galactosemia, but long-term issues such as primary ovarian insufficiency (POI) remain significant.
- Trial name
- NCT07461519
- Where
- 19 sites in Italy
- Volunteers
- 60 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Turner Syndrome, Post-menarcheal Adolescents
Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy
Background: Turner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child.
- Conditions
- Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia
- Trial name
- NCT04948658
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Galactosemia, Premature Ovarian Failure
Inactive FSH in Galactosemia
The aim of the study is to investigate whether inactive FSH plays a role in the development of Premature Ovarian Failure in women with Classic Galactosemia
- Trial name
- NCT00619333
- Testing
- follitropin and lutropin
- Where
- Netherlands
- Volunteers
- 25 people
- Sponsor
- Maastricht University Medical Center
Classic Galactosemia
AT-007 in Adult Subjects With Classic Galactosemia (CG)
This study is a 12-month open-label extension (OLE) study of AT-007 in adult subjects with CG who previously participated in Study AT-007-1001 Part D and/or Part D Extension.
- Trial name
- NCT05418829
- Testing
- AT-007
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Applied Therapeutics, Inc.
Classic Galactosemia
Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia
This study is a first-in-human, randomized, placebo-controlled, 4-Part, single ascending dose (SAD) and multiple ascending dose (MAD) study in healthy adult subjects and adult subjects with Classic Galactosemia.
- Trial name
- NCT04117711
- Testing
- AT-007
- Where
- 4 sites in United States
- Volunteers
- 114 people, healthy volunteers welcome
- Sponsor
- Applied Therapeutics, Inc.
Classic Galactosemia
The Effect of Arginine on Classic Galactosemia
Rationale: Classic galactosemia is a rare inherited metabolic disease that presents in neonatal patients with a life-threatening multi-organ toxic syndrome.
- Trial name
- ARGALT (NCT03580122)
- Testing
- Arginine Aspartate
- Where
- Netherlands
- Volunteers
- 4 people
- Sponsor
- Academisch Ziekenhuis Maastricht
Gale, Severe Forms of Scabies
Efficacy Study Between Two Different Dosages of an Antiparasitic in Patients With Crusted Scabies
Severe forms of scabies (crusted scabies and profuse scabies) require a specific treatment. Ivermectin is a recommended treatment in common forms of scabies and represents a promising treatment in crusted scabies in case reports.
- Conditions
- Gale, Severe Forms of Scabies, Oral Parasitic Drug, Ivermectin
- Trial name
- GALECRUSTED (NCT02841215)
- Testing
- Ivermectin 200 µg/kg, Ivermectin 400 µg/kg
- Where
- France
- Volunteers
- 133 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Classical Galactosaemia
Glycosylation in Patients With Galactosaemia
Galactosaemia is an inherited condition caused by a lack of an enzyme (catalyst) which normally breaks down galactose (the sugar found in milk products).
- Trial name
- NCT02218632
- Testing
- lactose-free diet, Temporary oral galactose supplements
- Where
- Ireland
- Volunteers
- 26 people
- Sponsor
- Children's University Hospital, Ireland
Phenylketonuria, Galactosemia
The Early History of Universal Screening for Metabolic Disorders
We are doing this study to learn more about the early history of universal screening for metabolic disorders such as PKU and galactosemia.
- Conditions
- Phenylketonuria, Galactosemia, Inborn Errors of Metabolism
- Trial name
- NCT00309400
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Miami
Duarte Galactosemia
Intervention and Outcomes in Duarte Galactosemia
The purpose of this study is to learn about Duarte galactosemia (DG). This study will examine the possible effects of Duarte galactosemia (DG) in children, and determine whether dietary exposure to milk in infancy or early…
- Trial name
- NCT02519504
- Where
- United States
- Volunteers
- 566 people, healthy volunteers welcome
- Sponsor
- Emory University
Classic Galactosemia
Clinical Benefit, Safety, PK and PD Study of AT-007 in Pediatric Subjects With Classic Galactosemia
This study is designed to assess the clinical benefit as well as the safety, pharmacokinetics (PK), and pharmacodynamics (PD) (reduction of galactitol levels) of AT-007 in pediatric subjects with Classic Galactosemia (CG).
- Trial name
- NCT04902781
- Testing
- AT-007
- Where
- 3 sites in United States
- Volunteers
- 47 people
- Sponsor
- Applied Therapeutics, Inc.
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
Classic Galactosemia, Speech Disorders in Children
Preventing Speech and Language Disorders in Children With Classic Galactosemia
A critical knowledge gap is whether proactive intervention can improve speech and language outcomes in infants at known risk for communication disorders.
- Conditions
- Classic Galactosemia, Speech Disorders in Children, Language Disorders in Children
- Trial name
- NCT03838016
- Testing
- Babble Boot Camp
- Where
- United States
- Volunteers
- 285 people
- Sponsor
- Arizona State University
Galactosemias, Primary Ovarian Insufficiency
Pregnancy Chances in Classic Galactosemia
With this study, in which the incidence of pregnancy in classic galactosemia patients is studied, we aim to provide new insights to improve counselling.
- Trial name
- NCT02091128
- Where
- Netherlands
- Volunteers
- 85 people
- Sponsor
- Maastricht University Medical Center