Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug

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• Glycogen Storage Disease Type II 151

Glycogen Storage Disease Type II

151 studies on the registry are indexed under Glycogen Storage Disease Type II; 30 are open to participants now.

This study's planned enrollment of 33 is above the median of 17 across 81 interventional studies indexed under Glycogen Storage Disease Type II.

Lead sponsor

GeneCradle Inc is the lead sponsor of 8 studies on the registry; 6 are open to participants now.

Study arms

• Experimental
  Low dosage group

  Single intravenous administration of GC301 at a dose of 3.0 x 10\^13 vector genomes per kilogram body weight

  Genetic: GC301

• Experimental
  High dosage group

  Single intravenous administration of GC301 at a dose of 6.0 x 10\^13 vector genomes per kilogram body weight

  Genetic: GC301

Interventions

• GeneticGC301

  GC301, is an adeno-associated virus 9 (AAV9) vector delivering a functional copy of the human GAA gene

Primary outcomes

1. Number of Participants With Adverse Events

   Number of Participants with Adverse Events as a Measure of Safety and Tolerability

   Time frame: 52 weeks

2. Dose-limiting toxicity (DLT) rate based on protocol-specific adverse events (Phase 1)

   Time frame: within 30 days after treatment

3. Percent Predicted Upright Forced Vital Capacity (FVC)(Phase 2)

   Change from baseline in percentage of predicted FVC measured by pulmonary function testing

   Time frame: 52 weeks

Secondary outcomes

1. 6-Minute Walk Test

   Change from baseline in the distance walked in the 6 minute walk test (6MWT), which is a standardized assessment of how far an individual can walk on a hard, flat surface in a period of 6 minutes

   Time frame: 52 weeks

2. Maximum Inspiratory Pressure (MIP)

   Change from baseline in MIP measured by pulmonary function testing

   Time frame: 52 weeks

3. Maximum Expiratory Pressure (MEP)

   Change from baseline in MEP measured by pulmonary function testing

   Time frame: 52 weeks

4. Muscle Status Testing - Quick Motor Function Test (QMFT) Measure

   Measurement of functional motor abilities using the Quick Motor Function Test (QMFT) will be performed and the results compared with baseline.

   Time frame: 52 weeks

5. Quality of life evaluation: 12-item short form health survey (SF-12) for LOPD participants

   SF-12, a 12 item-questionnaire, used to assess health-related quality of life in participants aged \>=18 years at screening/baseline. SF-12 consisted of 12 items, which were categorized into eight domains (subscales) of functioning and well-being: physical functioning, role-physical, role emotional, mental health, bodily pain, general health, vitality and social functioning, with each domain score ranged from 0 (poor health) to 100 (better health), higher scores indicated good health condition. These eight domains were further summarized into 2 summary scores, physical component summary (PCS) and mental component summary (MCS). The score range for each of these 2 summary scores was from 0 (poor health) to 100 (better health), higher scores indicated a better health-related quality of life.

   Time frame: 52 weeks

6. Time needed for non-invasive ventilatory support

   Change from baseline in time duration that needed for non-invasive ventilatory support

   Time frame: 52 weeks

7. The viral load of adeno-associated virus (AAV) vector

   To assess the change of AAV vector copy numbers within 52 weeks after administration.

   Time frame: 52 weeks

8. Occurrence of immune response against AAV capsid annd GAA transgene

   Time frame: 52 weeks

Other outcomes

1. GAA enzymatic activity

   Change from baseline in GAA enzymatic activity in muscle biopsies

   Time frame: 52 weeks

2. GAA enzymatic activity

   Change from baseline in GAA enzymatic activity in blood

   Time frame: 52 weeks

3. Glycogen content in muscle

   Change from baseline in glycogen content in muscle biopsies

   Time frame: 52 weeks