TerminatedNot Applicable

A Natural History Study of Aspartylglucosaminuria

Stopped: Discontinued AGU development program

United States8 participantsStarted 2019-04-18

Plain-language summary

Aspartylglucosaminuria (AGU) is a rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance and, ultimately, premature death, and has no available treatments. The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with AGU. This natural history study is important to better understand disease course to be able to determine clinically meaningful outcome measures for use in future clinical trials.

Who can participate

SexALL

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Inclusion Criteria: * Participants must have a diagnosis of AGU based on clinical presentation and genetic testing (known or suspected pathogenic mutation in AGA gene). Exclusion Criteria: * Patients unable to travel to UT Southwestern Medical Center and Children's Health Dallas will not be enrolled in the prospective natural history study collecting standardized clinical data; however, with participant consent, medical records will be obtained, reviewed, and recorded in the natural history database over time.

What they're measuring

Neuropsychological Testing

Timeframe: 5 years

Ophthalmological Evaluation

Timeframe: 5 years

Visual Evoked Potential (VEP)

Timeframe: 5 years

Brainstem Auditory Evoked Response (BAER)

Timeframe: 5 years

Magnetic Resonance Imaging (MRI)/Magnetic Resonance Spectroscopy (MRS)

Timeframe: 5 years

Trial details

NCT IDNCT03853876

SponsorNeurogene Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2020-10-15

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