Your session is about to expire
← Back to Search
Virus Therapy
Gene Therapy for Spinal Muscular Atrophy
Phase 1 & 2
Waitlist Available
Led By Megan Waldrop, MD
Research Sponsored by Megan Waldrop
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial Must have
Confirmation of two pathogenic variants in the IGHMBP2 gene from a CLIA-certified lab
Pre-ambulant (not yet walking and less than 18 months) or ambulant (as defined by the ability to walk 10 meters without assistance) or non-ambulant (inability to walk more than 10 meters unassisted)
Timeline
Screening 3 weeks
Treatment Varies
Follow Up 3 years
Awards & highlights
Study Summary
This trial is testing a gene therapy for a rare disease called IGHMBP2-related disease.
Who is the study for?
This trial is for individuals with genetic confirmation of IGHMBP2-related diseases, such as Spinal Muscular Atrophy or Charcot-Marie-Tooth Disease. Participants can be pre-ambulant, ambulant, or non-ambulant and must be able to perform functional assessments. They cannot have had recent immunizations, infections like HIV/Hepatitis B/C, abnormal blood counts or liver function tests, high AAV9 antibody levels, other systemic illnesses that increase gene transfer risks or require chronic drug treatment.Check my eligibility
What is being tested?
The study involves a one-time intrathecal injection (into the spinal canal) of an AAV9 vector carrying the IGHMBP2 gene. It's an open-label trial meaning everyone knows what treatment is being given. The goal is to see if this gene therapy can help with conditions related to IGHMBP2 mutations.See study design
What are the potential side effects?
Potential side effects may include immune reactions to the AAV9 vector used in gene therapy which could lead to inflammation in various organs. There might also be complications from the intrathecal injection procedure itself.
Eligibility Criteria
Inclusion Criteria
You may be eligible if you check “Yes” for the criteria belowSelect...
I have two confirmed genetic mutations in the IGHMBP2 gene.
Select...
I can walk more than, less than, or exactly 10 meters without help.
Timeline
Screening ~ 3 weeks3 visits
Treatment ~ Varies
Follow Up ~ 3 years
Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~3 years
Treatment Details
Study Objectives
Outcome measures can provide a clearer picture of what you can expect from a treatment.Primary outcome measures
Monitoring for the development of unacceptable toxicity.
Secondary outcome measures
For ambulant participants, change in the 100-meter timed test from baseline
For non-ambulant participants, ages 18 months to 6 years, change in the Neuromuscular Gross Motor Outcome (GRO) from baseline
For non-ambulant participants, ages greater than 6 years, change in the revised upper limb module for SMA (RULM) from baseline
+1 moreSide effects data
From 2019 Phase 2 trial • 12 Patients • NCT0059848167%
Rhinitis
42%
Device related infection
42%
Upper respiratory tract infection
42%
Hepatic enzyme increased
33%
Neutropenia
33%
Oral candidiasis
33%
Cough
33%
Anaemia
33%
Diarrhoea
33%
Pyrexia
25%
Bronchitis
25%
Upper respiratory tract infection bacterial
25%
Urinary traction infection pseudomonal
25%
Skin lesion
25%
Hypertension
25%
Rash
25%
Escherichia urinary tract infection
25%
Computerized tomogram thorax abnormal
17%
Eosinophilia
17%
Tympanometry abnormal
17%
Weight decreased
17%
Decreased appetite
17%
Febrile neutropenia
17%
Blood immunoglobulin E increased
17%
Gastroenteritis
17%
Varicella
17%
Hemophilus infection
17%
Otitis media
17%
Dermatitis
17%
Dermatitis atopic
17%
Acquired phimosis
17%
Candida infection
17%
Ear infection
17%
Iron deficiency anaemia
17%
Urinary Tract Infection (bacterial)
17%
Nasopharyngitis
17%
Phimosis
17%
Electrophoresis protein abnormal
17%
Blood alkaline phosphatase increased
17%
Bone development abnormal
17%
Hypothyroidism
17%
Deafness bilateral
17%
Enteritis
8%
Staphylococcal infection
8%
Productive cough
8%
Skin infection
8%
Urinary tract infection enterococcal
8%
Congenital genital malformation
8%
Interstitial lung disease
8%
Rhinorrhea
8%
Asthma
8%
Developmental delay
8%
Esptein-Barr virus infection
8%
Streptococcal infection
8%
Device occlusion
8%
Hepatic lesion
8%
Skin exfoliation
8%
Tinea capitis
8%
Aplastic anemia
8%
Cerebral hematoma
8%
Adverse drug reaction
8%
Autoimmune thrombocytopenia
8%
Respiratory tract infection
8%
Gastroenteritis norovirus
8%
Gingivitis
8%
Otitis media acute
8%
Pharyngitis
8%
Pneumococcal infection
8%
Respiratory syncytial virus infection
8%
Adenovirus test positive
8%
Bacterial test positive
8%
Clostridium test positive
8%
Pulmonary function test abnormal
8%
Serum ferritin decreased
8%
Staphylococcus test positive
8%
Total lung capacity decreased
8%
Pneumonitis
8%
Bronchial wall thickening
8%
Bronchospasm
8%
Epistaxis
8%
Nasal turbinate hypertrophy
8%
Pulmonary calcification
8%
Pulmonary mass
8%
Rhinitis allergic
8%
Skin ulcer
8%
Dermatitis diaper
8%
Drug eruption
8%
Dry skin
8%
Eczema
8%
Eczema nummular
8%
Erythema multiforme
8%
Lichen planus
8%
Scab
8%
Micropenis
8%
Reproductive tract hypoplasia, male
8%
Psychomotor hyperactivity
8%
Speech disorder
8%
Hepatomegaly
8%
Autoimmune hepatitis
8%
Wound
8%
Food aversion
8%
Deafness
8%
Middle ear inflammation
8%
Myopia
8%
Sinus arrhythmia
8%
Wandering pacemaker
8%
Perineal erythema
8%
Hemangioma of liver
8%
Lipofibroma
8%
Pyogenic granuloma
8%
Anaphylactic reaction
8%
Acidosis
8%
Aspergillis infection
8%
Campylobacter infection
8%
Catheter site infection
8%
Clostridium difficile infection
8%
Escherichia sepsis
8%
Fungal skin infection
8%
Sinusitis
8%
Staphylococcal sepsis
8%
Thrombocytopenia
8%
Epstein-Barr virus infection
8%
Petechiae
8%
Diarrhea
8%
Guillian-Barre Syndrome
8%
Autoimmune haemolytic anemia
8%
Urticaria
8%
Cryptorchism
8%
Amblyopia
8%
Refraction disorder
8%
Pericardial effusion
8%
Pulmonary valve stenosis
8%
Respiratory Tract Infection
8%
Upper Respiratory tract infection (bacterial)
8%
Urinary Tract Infection
8%
Viral diarrhea
8%
Pseudomonas test positive
8%
Spirometry abnormal
8%
Gallbladder cholesterolosis
8%
Hepatic fibrosis
8%
Tibia fracture
8%
Hypermetropia
8%
Respiratory Tract Infection, bacterial
8%
Influenza
8%
Hypertonic bladder
8%
Clostridium difficile colitis
8%
Vomiting
8%
Gastroesophageal reflux disease
8%
Dental caries
8%
Oral disorder
100%
80%
60%
40%
20%
0%
Study treatment Arm
Gene Therapy (Pivotal)
Trial Design
1Treatment groups
Experimental Treatment
Group I: Single Intrathecal DeliveryExperimental Treatment1 Intervention
Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
Gene Therapy
2002
Completed Phase 2
~20
Find a Location
Who is running the clinical trial?
Megan WaldropLead Sponsor
1 Previous Clinical Trials
3 Total Patients Enrolled
Alcyone TherapeuticsUNKNOWN
Megan Waldrop, MDPrincipal InvestigatorNationwide Children's Hospital
2 Previous Clinical Trials
5 Total Patients Enrolled
Media Library
Eligibility Criteria:
This trial includes the following eligibility criteria:- I have two confirmed genetic mutations in the IGHMBP2 gene.I cannot safely stop my immune therapy for a washout period.I can follow through with tests as my doctor sees fit.My liver isn't working properly, shown by high GGT or bilirubin levels, or abnormal PT/INR.I have tested positive for the JC virus with a level above 0.40.I can walk more than, less than, or exactly 10 meters without help.I currently have an infection.I am being treated for an autoimmune disease.I have a health condition or need for ongoing medication that may not be safe with gene therapy.You have previously participated in a program involving gene or cell therapy for any condition.I cannot have treatments injected into my spinal canal.
Research Study Groups:
This trial has the following groups:- Group 1: Single Intrathecal Delivery
Awards:
This trial has 1 awards, including:- No Placebo-Only Group - All patients enrolled in this study will receive some form of active treatment.
Timeline:
This trial has the following timeline:- Screening: It may take up to 3 Weeks to process to see if you qualify in this trial.
- Treatment: The duration you will receive the treatment varies.
- Follow Ups: You may be asked to continue sharing information regarding the trial for 6 Months after you stop receiving the treatment.
Frequently Asked Questions
These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
Are there any vacancies left for participants in this experiment?
"According to clinicaltrials.gov, this medical experiment is not currently enrolling patients as of December 16th 2021 - the last time it was updated. Although no longer recruiting participants, there are 1 other studies actively looking for volunteers."
Answered by AI
What are the eligibility criteria for joining this clinical exploration?
"For this clinical trial, 10 volunteers between the ages of 2 Months and 14 who have cmt2s are needed. Moreover, candidates must be pre-ambulant (not walking yet or younger than 18 months old), ambulant (able to traverse a distance of 10 meters without help) or non-ambulant (unable to walk over 10m independently). Also, participants need to cooperate with functional assessments as per researcher's discretion."
Answered by AI
Does the protocol of this trial permit individuals above 55 to participate?
"According to the terms of participation, this medical experiment accepts patients between the ages of 2 months and 14 years."
Answered by AI
Recent research and studies
Other Trials to Consider
Popular Categories
Share this study with friends
Copy Link
Messenger