Clinical trials: NGLY1 Deficiency
Genetic Syndrome
NGLY1 Deficiency: A Prospective Natural History Study
NGLY1 deficiency is a rare genetic disorder that is characterized by: global developmental delay and/or intellectual disability, hypo- or alacrima, transient elevation of transaminases, and a hyperkinetic movement disorder.
- Trial name
- NCT03834987
- Testing
- Neurodevelopmental Assessment
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- Stanford University
NGLY1 Deficiency
Safety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency
A non-randomized, open-label, Phase 1/2/3 study of a single intracerebroventricular (ICV) administration of a gene replacement therapy (GS-100) in participants who are 2 to 18 years old with NGLY1 Deficiency.
- Trial name
- NCT06199531
- Testing
- GS-100
- Where
- 2 sites in United States
- Volunteers
- 10 people
- Sponsor
- Grace Science, LLC
NGLY1 Deficiency
A Study of GlcNAc on Tear Production in NGLY1-CDDG
In patients with NGLY1-CDDG, the disorder can lead to eye damage due to not being able to produce enough tears. This study is being done to see if the dietary supplement, GlcNAc, improves tear production in patients with…
- Trial name
- NCT05402345
- Testing
- GlcNAc-GlcN
- Where
- 2 sites in United States
- Volunteers
- 18 people
- Sponsor
- Eva Morava-Kozicz
NGLY1 Deficiency
NGLY1 Natural History
N-glycanase 1 (NGLY1) Deficiency (OMIM #615273) is an ultra-rare, autosomal recessive disorder caused by loss of function variants in NGLY1 gene.
- Trial name
- NCT06122766
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Baylor College of Medicine