Rollover Study From EXG-US-01

Study Overview
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Brief Summary
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This is a long-term rollover follow-up study for Phase I/II study (Protocol EXG-US-01).

Detailed Description
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Patients who received EXG34217 treatment and had at least one follow-up visit (Month 1, 3, 6, or 12) in Study EXG-US-01 will be eligible for this rollover study. Patient will sign a consent form prior to any study related procedure. This study is to add additional follow-up assessments up to 6 years after EXG34217 treatment. This study does not have additional intervention. Additional visits will be every 6 months in the first 3 years and once a year for two years.

Official Title
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Long Term Follow-up Study in Patients With Telomere Biology Disorders With Bone Marrow Failure Who Completed Study EXG-US-01

Conditions
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Telomere Biology Disorders With Bone Marrow Failure

Intervention / Treatment
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* Biological: EXG34217


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Signed an Institutional Review Board (IRB) approved informed consent document indicating that they understand the purpose of, and procedures required by the study and are willing to participate in the study and comply with all study procedures and restrictions. Informed consent must be obtained from the subject prior to initiating procedures. Have completed the 12-month visit of Study EXG-US-01. Exclusion Criteria: -

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Supportive Care
Intervention Model: Single Group Assignment
Interventional Model Description: Sequential Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: EXG34217<br>single autologous CD34+ cells contacted ex vivo with EXG-001 | Biological: EXG34217<br>* Single infusion<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of participants with adverse events -Safety by Incidence of Treatment-Emergent | Number of participants with treatment-related adverse events as assessed by CTCAE v4.03. Incidence and nature of adverse events, vital signs, weight. | Change from Baseline Systolic Blood Pressure at Month 18, 24,30,36,42,48,60 and 72 | 
| umber of participants with a change in in physical examination | Physical examination changes General appearance ,Head, eyes, ears, nose, and throat, Respiratory, Cardiovascular, Musculoskeletal, Abdomen, Neurologic, Extremities, Dermatologic, Lymphatic) | Change from Baseline Systolic Blood Pressure at Month 18, 24,30,36,42,48,60 and 72 | 
| Number of participants with a change in Electrocardiography (ECG) | ECG (standard digital 12-lead in singlicate) | Change from Baseline Systolic Blood Pressure at Month 18, 24,30,36,42,48,60 and 72 | 
| Number of participants with a change in clinical laboratory evaluations | Changes in clinical laboratory evaluations (Hematology, Blood chemistry, Coagulation, and Urinalysis) | Change from Baseline Systolic Blood Pressure at Month 18, 24,30,36,42,48,60 and 72 | 
| Number of participants with a change of Immunogenicity | Change in Antibody against virus vector and transgene | Change from Baseline Systolic Blood Pressure at Month 18, 24,30,36,42,48,60 and 72 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of participants with a change in telomere length | Change in telomere length in any peripheral blood cells | Change from Baseline Systolic Blood Pressure at Month 18, 24,30,36,42,48,60 and 72 | 
| Number of participants with improvement of blood counts. | Blood counts: neutrophils,platelets, or hemoglobin | Change from Baseline Systolic Blood Pressure at Month 18, 24,30,36,42,48,60 and 72 |