Clinical trials: Congenital Disorders of Glycosylation
Phosphomannomutase 2 Deficiency, PMM2-CDG
A Study to Assess the Efficacy and Safety of Weekly Doses of GLM101 in Participants With PMM2-CDG
This study is evaluating the safety, effectiveness, and how the body absorbs, distributes, and eliminates GLM101, for participants with PMM2-CDG, including children, adolescents, and adults.
- Trial name
- NCT06892288
- Testing
- GLM101 (Part A, Double-blind), GLM101 (Part B, Open-label)
- Where
- 15 sites in United States, Belgium and 8 more
- Volunteers
- 50 people
- Sponsor
- Glycomine, Inc.
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
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
Pmm2-CDG, CDG1A
Acetazolamide Efficacy in Ataxia in PMM2-CDG
Objective 1 (Primary): To determine the efficacy of acetazolamide in improving ataxia in patients with PMM2-CDG. Objective 2 (Secondary): To evaluate for any adverse events related to longer term acetazolamide administration.
- Trial name
- NCT04679389
- Testing
- Acetazolamide
- Where
- 3 sites in United States
- Volunteers
- 25 people
- Sponsor
- Mayo Clinic
SLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of Glycosylation
AVTX-801 D-galactose Supplementation in SLC35A2-CDG
This is a multicenter, randomized, double-blind, placebo-controlled, cross-over study to evaluate the efficacy and safety of AVTX-801 in subjects with SLC35A2-CDG
- Trial name
- NCT05402384
- Testing
- AVTX-801
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Eva Morava-Kozicz
Congenital Disorders of Glycosylation
Study of Hemostasis in Patients With Congenital Disorder of Glycosylation
The purpose of this study is to investigate the coagulation balance in a cohort of congenital disorder of glycosylation (CDG) patients using conventional tests combined with an integrated approach of their coagulation disorders…
- Trial name
- CDG-Coag (NCT03560570)
- Testing
- Coagulation assay, Clinical data collection
- Where
- France
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Congenital Disorders of Glycosylation
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Background: Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly.
- Trial name
- NCT02089789
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
DHDDS-Congenital Disorder of Glycosylation, DHDDS-CDG
Assessing the Safety and Tolerability of NMN in DHDDS-CDG
The primary objective of this study is to evaluate the safety and tolerability of the dietary supplement, nicotinamide mononucleotide (NMN), in individuals with dehydrodolichol diphosphate synthase congenital disorder of…
- Conditions
- DHDDS-Congenital Disorder of Glycosylation, DHDDS-CDG, Congenital Disorder of Glycosylation
- Trial name
- NCT07572825
- Testing
- Nicotinamide Mononucleotide (NMN) Nucleosidase
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Eva Morava-Kozicz
Pmm2-CDG, Phosphomannomutase 2 Deficiency
Oral Epalrestat Therapy in Pediatric Subjects With PMM2-CDG
This is a prospective, single-center, randomized, double-blind, placebo-controlled study designed to assess the safety, tolerability, and clinical and metabolic improvement of pediatric subjects with PMM2-CDG on oral epalrestat…
- Conditions
- Pmm2-CDG, Phosphomannomutase 2 Deficiency, Phosphomannomutase 2 Congenital Disorder of Glycosylation, Phosphomannomutase II Congenital Disorder of Glycosylation
- Trial name
- NCT04925960
- Testing
- Epalrestat
- Where
- United States
- Volunteers
- 42 people
- Sponsor
- Maggie's Pearl, LLC
CDG Ib
Study of ORL-1M (D-mannose) in Patients With CDG-Ib
Study of ORL-1M in Patients With CDG-Ib
- Trial name
- NCT03404869
- Testing
- ORL-1M - D-mannose
- Where
- Turkey (Türkiye)
- Volunteers
- 5 people
- Sponsor
- Orpha Labs
Congenital Heart Diseases, Conotruncal Defects
"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"
The objective of the study is to investigate congenital disorders of glycosylation in congenital heart diseases without a clear molecular or genetic basis.
- Conditions
- Congenital Heart Diseases, Conotruncal Defects, Congenital Disorder of Glycosylation, Antithrombin III Deficiency
- Trial name
- (CARDIoG) (NCT02503267)
- Testing
- none intervention
- Where
- Spain
- Volunteers
- 300 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Pmm2-CDG, Phosphomannomutase 2 Deficiency
24-Week Study to Assess the PD, Safety, Tolerability, and PK of GLM101 in Participants With PMM2-CDG
This is a Phase 2, randomized, open-label, 24-week treatment study to evaluate the potential pharmacodynamic (PD) activity, safety, tolerability, and pharmacokinetics (PK) of GLM101 in adult, adolescent, and pediatric, patients…
- Trial name
- NCT05549219
- Testing
- GLM101
- Where
- 4 sites in United States, Spain and 1 more
- Volunteers
- 27 people
- Sponsor
- Glycomine, Inc.
Congenital Disorders of Glycosylation
Role of the Endothelium in Stroke-like Episode Among CDG Patients
The aim of the study is to evaluate the role of the endothelial barrier in the occurrence of stroke-like episode. And to study the protein C system on the surface of the endothelium.
- Trial name
- PECDG (NCT03250728)
- Testing
- Peripheral blood puncture
- Where
- France
- Volunteers
- 6 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Pmm2-CDG, Phosphomannomutase 2 Deficiency
Open-Label Extension Study to Assess GLM101 in PMM2-CDG Patients
The goal of this clinical trial is to provide continued access to GLM101 to treat PMM2-CDG in people who have previously received GLM101 in other trials and learn about the long term effect of GLM101.
- Trial name
- NCT06657859
- Testing
- GLM101
- Where
- 15 sites in United States, Czechia and 6 more
- Volunteers
- 90 people
- Sponsor
- Glycomine, Inc.
Leukocyte Adhesion Deficiency, Type II
Study of ORL-1F (L-fucose) in Patients With Leukocyte Adhesion Deficiency Type II
Study of ORL-1F in Patients With Leukocyte Adhesion Deficiency Type II
- Trial name
- NCT03354533
- Testing
- L-fucose
- Volunteers
- 4 people
- Sponsor
- Orpha Labs
Glomerulonephritis, IGA, Hypertension
A Prospective Study of the Kidney Protective Effect of Aliskiren in Hypertensive Patients With IgA Nephropathy
The purpose of this study is to evaluate the effect of aliskiren, a novel direct rennin inhibitor, on renal function and progress of renal disease in hypertensive patients with IgA nephropathy.
- Trial name
- NCT01184599
- Testing
- aliskiren
- Where
- 4 sites in Japan
- Volunteers
- 30 people
- Sponsor
- Kagawa University
Phosphomannomutase 2 Deficiency
Natural History Study Protocol in PMM2-CDG (CDG-Ia)
Clinical and Basic Investigations into Phosphomannomutase deficiency (PMM2-CDG) This is a natural history (observational) protocol designed to collect clinical and biological information in patients with PMM2-CDG (CDG-Ia).
- Trial name
- NCT03173300
- Where
- 11 sites in United States, Belgium and 7 more
- Volunteers
- 139 people
- Sponsor
- Glycomine, Inc.
Congenital Disorder of Glycosylation
Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation
Researchers are trying to assess whether the use of simple sugars given as a daily dietary supplement can improve the health of children with congenital disorders of glycosylation (CDG).
- Trial name
- NCT04198987
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Mayo Clinic
PGM1-CDG - Phosphoglucomutase 1-Related Congenital Disorder of Glycosylation
Evaluating the Efficacy and Safety of D-galactose in PGM1-CDG (AVTX-801)
This is a clinical trial to evaluate the efficacy of AVTX-801 (D-galactose) on the clinical manifestations of PGM1-CDG in participants currently taking D-galactose.
- Trial name
- AVTX-801 (NCT05402332)
- Testing
- AVTX-801
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Eva Morava-Kozicz
Congenital Disorders of Glycosylation
Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
The goal of this study is to better characterize the metabolic alterations and sugar structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital Disorders of Glycosylation.
- Trial name
- NCT02955264
- Testing
- D-Galactose
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Tulane University