NGLY1 Deficiency: A Prospective Natural History Study
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/6/2019 |
| Start Date: | February 1, 2019 |
| End Date: | January 2026 |
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.
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.
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
We found this trial at
1
site
450 Serra Mall
Stanford, California 94305
Stanford, California 94305
(650) 723-2300
Principal Investigator: Maura Ruzhnikov, MD
Phone: 650-736-0885
Stanford University Stanford University, located between San Francisco and San Jose in the heart of...
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