NGLY1 Deficiency: A Prospective Natural History Study

Stanford University

Status: Terminated

Conditions: Genetic Syndrome

Treatments: Other: Neurodevelopmental Assessment

Study type: Observational

Funder types: Other

Identifiers

NCT03834987

IRB-47335

Details and patient eligibility

About

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. Significant phenotypic variability has been observed in the small number of affected individuals described in the medical literature.

The purpose of this study is to describe the natural history of NGLY1 deficiency in a prospective, detailed, and highly uniform manner. Study participants will be closely monitored over the course of five years in order to:

• understand the clinical spectrum and progression of NGLY1 deficiency using standardized clinical and neurodevelopmental assessments
• identify clinical and biomarker endpoints for use in therapeutic trials, and
• identify genotype-phenotype correlations

Close clinical follow-up will allow for generation of a rich dataset and detailed understanding of the natural history of NGLY1 deficiency.

Enrollment: 29 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Parent(s)/legal representative and/or participant must be willing and able to give informed consent/assent for participation in the study
• Males or females of any age
• Suspected or confirmed diagnosis of NGLY1 deficiency with genetic variants in both NGLY1 alleles and consistent clinical characteristics
• Participant and caregiver must be willing to provide clinical data, participate in standardized assessments, and provide biological samples (if living in the United States)
• Willingness to travel to Palo Alto, CA is favored, but not required

Exclusion criteria

• The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of NGLY1 deficiency