Clinical trials: Acid Maltase Deficiency
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
Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
- Conditions
- Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors, Carbohydrate Metabolism, Inborn Errors, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT02635269
- Testing
- Sugar
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
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
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
Dermatomyositis, Glycogen Storage Disease Type II
Genetic and Family Studies of Inherited Muscle Diseases
The purposes of this study are to identify gene mutations in patients with the muscle diseases phosphofructokinase (PFK) deficiency, acid maltase deficiency (GAA deficiency) and to learn more about how these diseases develop.
- Conditions
- Dermatomyositis, Glycogen Storage Disease Type II, Glycogen Storage Disease Type VII, Myositis
- Trial name
- NCT00001331
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)