Clinical trials: Congenital Disorders of Glycosylation, open to volunteers
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.
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)
Congenital Disorders of Glycosylation
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.
- Trial name
- NCT04199000
- Where
- 12 sites in United States
- Volunteers
- 500 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
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
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
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 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