GM1 Natural History and Biomarkers

• Research type

  Research Study

• Full title

  Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients

• IRAS ID

  258473

• Contact name

  Jill MacDougall Jill MacDougall

• Contact email

  jillmac@upenn.edu

• Sponsor organisation

  Orphan Disease Center

• Duration of Study in the UK

  5 years, 0 months, 23 days

• Research summary

  This study aims to understand the changes in various outcome measures & biomarkers in the GM1 infantile and juvenile populations.
  Up to 20 infantile and 20 juvenile GM1 patients will be enrolled across 6 sites. The procedures/interactions include: physical & neurological exam, blood & urine sample collection, questionnaires & assessments of development, ECHO, ECG, x-ray and ultrasound (if MRI not performed). Optional procedures include: EEG, general anesthesia, MRI and lumbar puncture.

• REC name

  London - Fulham Research Ethics Committee

• REC reference

  19/LO/1125

• Date of REC Opinion

  27 Aug 2019

• REC opinion

  Further Information Favourable Opinion