Trial Search Results

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. 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.

Stanford is currently not accepting patients for this trial.

Lead Sponsor:

Stanford University

Collaborator: Grace Science Foundation

Stanford Investigator(s):

Intervention(s):

  • Other: Neurodevelopmental Assessment

Eligibility


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

Ages Eligible for Study

N/A - N/A

Genders Eligible for Study

All

Not currently accepting new patients for this trial

Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305
Study Team
650-736-0885
Recruiting