CLINICAL TRIAL

IB1001 for Gangliosidoses, GM2

Waitlist Available · Any Age · All Sexes · Rochester, MN

This study is evaluating whether a drug called N-Acetyl-L-Leucine (IB1001) is safe and effective for treating people with GM2 Gangliosidosis.

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About the trial for Gangliosidoses, GM2

Eligible Conditions
Gangliosidoses · Gangliosidoses, GM2 · Tay-Sachs Disease · GM2 Gangliosidosis · Sandhoff Disease

Treatment Groups

This trial involves 2 different treatments. IB1001 is the primary treatment being studied. Participants will all receive the same treatment. There is no placebo group. The treatments being tested are in Phase 2 and have already been tested with other people.

Main TreatmentA portion of participants receive this new treatment to see if it outperforms the control.
IB1001
DRUG
Control TreatmentAnother portion of participants receive the standard treatment to act as a baseline.

About The Treatment

Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
Trenonacog alfa
Not yet FDA approved

Side Effect Profile for IB1001 Safety Population

IB1001 Safety Population
Show all side effects
17%
Headache
16%
Arthralgia
13%
Pyrexia
12%
Nasopharyngitis
10%
Limb injury
9%
Dairrhoea
8%
Nasal congestion
8%
Insomnia
8%
Vomiting
8%
Oropharyngeal pain
6%
Dizziness
6%
Hypertension
6%
Upper respiratory tract infection
6%
Cough
5%
Joint injury
5%
Arthritis
5%
Nausea
5%
Pain in extremity
5%
Constipation
5%
Back pain
5%
Contusion
5%
Procedural pain
1%
Haematoma
1%
Femur fracture
1%
Lumbar vertebral fracture
1%
Diverticulitis
1%
Abdominal pain
1%
Postoperative wound infection
1%
Mental status changes
1%
Periprosthetic fracture
1%
Skin laceration
1%
Wound infection
Headache
17%
Arthralgia
16%
Pyrexia
13%
Nasopharyngitis
12%
Limb injury
10%
Dairrhoea
9%
Nasal congestion
8%
Insomnia
8%
Vomiting
8%
Oropharyngeal pain
8%
Dizziness
6%
Hypertension
6%
Upper respiratory tract infection
6%
Cough
6%
Joint injury
5%
Arthritis
5%
Nausea
5%
Pain in extremity
5%
Constipation
5%
Back pain
5%
Contusion
5%
Procedural pain
5%
Haematoma
1%
Femur fracture
1%
Lumbar vertebral fracture
1%
Diverticulitis
1%
Abdominal pain
1%
Postoperative wound infection
1%
Mental status changes
1%
Periprosthetic fracture
1%
Skin laceration
1%
Wound infection
1%
This histogram enumerates side effects from a completed 2016 Phase 2 & 3 trial (NCT00768287) in the IB1001 Safety Population ARM group. Side effects include: Headache with 17%, Arthralgia with 16%, Pyrexia with 13%, Nasopharyngitis with 12%, Limb injury with 10%.

Eligibility

This trial is for patients born any sex of any age. There are 10 eligibility criteria to participate in this trial as listed below.

Inclusion & Exclusion Checklist
Mark “yes” if the following statements are true for you:
Hormonal contraception which contains estrogen or progestogen can sometimes inhibit ovulation show original
The intrauterine hormone-releasing system (IUS) is a small, T-shaped device that is inserted into the uterus show original
Hysteroscopic sterilization is a new, non-invasive procedure for sterilizing women show original
People aged ≥6 years in Europe or ≥18 years in the United States who have been confirmed to have GM2 gangliosidosis, a condition caused by a deficiency in the β-hexosaminidase enzyme due to a mutation in the HEXA or HEXB genes, can participate in this study. show original
Parent Study Inclusion Criteria
/guardian is obtained before any procedure or treatment show original
intrauterine device (IUD);
The partner must be sterilized surgically by a vasectomy for at least 6 months before you can start the procedure. show original
methods of progestogen-only contraception that work by inhibiting ovulation include oral, injectable, and implantable methods. show original
bilateral tubal occlusion.
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Odds of Eligibility
Unknown<50%
Be sure to apply to 2-3 other trials, as you have a low likelihood of qualifying for this one.Apply To This Trial

Approximate Timelines

Please note that timelines for treatment and screening will vary by patient
Screening: ~3 weeks
Treatment: varies
Reporting: CI-CS comparing Baseline (Day 1) with IB1001 verses the end of 6-weeks treatment with IB1001 (Approximately Day 42) MINUS the CI-CS comparing the end of 6-weeks treatment with IB1001 (Approximately Day 42) verses the end of 6-weeks post-treatment washout
Screening: ~3 weeks
Treatment: Varies
Reporting: CI-CS comparing Baseline (Day 1) with IB1001 verses the end of 6-weeks treatment with IB1001 (Approximately Day 42) MINUS the CI-CS comparing the end of 6-weeks treatment with IB1001 (Approximately Day 42) verses the end of 6-weeks post-treatment washout
This trial has approximate timelines as follows: 3 weeks for initial screening, variable treatment timelines, and reporting: CI-CS comparing Baseline (Day 1) with IB1001 verses the end of 6-weeks treatment with IB1001 (Approximately Day 42) MINUS the CI-CS comparing the end of 6-weeks treatment with IB1001 (Approximately Day 42) verses the end of 6-weeks post-treatment washout.
View detailed reporting requirements
Trial Expert
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- What options you have available- The pros & cons of this trial
- Whether you're likely to qualify- What the enrollment process looks like

Measurement Requirements

This trial is evaluating whether IB1001 will improve 1 primary outcome and 7 secondary outcomes in patients with Gangliosidoses, GM2. Measurement will happen over the course of Baseline to end of treatment with IB1001 (Parent Study Day 42); End of treatment with IB1001 to the end of post treatment washout (Parent Study 42 days following end of treatment).

Modified Disability Rating Scale (mDRS)
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY 42 DAYS FOLLOWING END OF TREATMENT)
The mDRS is used evaluate the overall neurological status. The scale assesses six domains (ambulation, manipulation, language, swallowing, seizures and ocular movements) and can be used to evaluate the severity of disease, monitor disease progression, and assess the effect of both symptomatic and long-term treatments. The mDRS scale is calculated as a composite score, with a lower score indicating an improved clinical status.
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY 42 DAYS FOLLOWING END OF TREATMENT)
Investigator's Clinical Global Impressions (CGI)
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42; EXTENSION PHASE DAY 365); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY & EXTENSION PHASE - 42 DAYS FOLLOWING END OF TREATMENT)
The CGI Scale is a widely validated scale that long been implemented in neurodegenerative disease trials to provide an index of clinical importance that cannot be obtained from quantitative assessment measures. The CGI comprises of two companion one-item measures evaluating: (A) The severity of the patient's condition and (B) the change from the initiation of treatment. Both measures are evaluated on a 1 to 7 point Likert scale, with 1 indicating the best clinical status and 7 indicating the worst.
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42; EXTENSION PHASE DAY 365); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY & EXTENSION PHASE - 42 DAYS FOLLOWING END OF TREATMENT)
Spinocerebellar Ataxia Functional Index (SCAFI)
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42; EXTENSION PHASE DAY 365); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY & EXTENSION PHASE - 42 DAYS FOLLOWING END OF TREATMENT)
The SCAFI scale is a validated ataxia rating scale and is an objective measure of ataxia and physical functioning which consists of three sub-scales: the 8 Meter Walk Test (8MWT), the 9-hole peg test with both dominant and non-dominant hands (9HPT-D; 9HPT-ND) and the "PATA" test to measure speech performance. For the 8MWT and 9HPT tests, a lower score/time indicates a clinical improvement. A higher "PATA" test score indicates improvement in speech performance. The SCAFI total score, and three subscales (8MWT, 9HPT-D, and PATA) are reported for statistical analysis.
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42; EXTENSION PHASE DAY 365); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY & EXTENSION PHASE - 42 DAYS FOLLOWING END OF TREATMENT)
Scale for Assessment and Rating of Ataxia (SARA) score
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42; EXTENSION PHASE DAY 365); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY & EXTENSION PHASE - 42 DAYS FOLLOWING END OF TREATMENT)
The SARA scale is an eight-item clinical rating scale (gait, stance, sitting, speech, fine motor function and taxis) with a total score range of 0-40, where 0 is the best neurological status and 40 the worst. SARA is a reliable and validated clinical scale with a high internal consistency that measures the severity and progression of ataxia.
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42; EXTENSION PHASE DAY 365); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY & EXTENSION PHASE - 42 DAYS FOLLOWING END OF TREATMENT)
EuroQuol - 5 Dimension (EQ-5D) Quality of Life Scale
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42; EXTENSION PHASE DAY 365); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY & EXTENSION PHASE - 42 DAYS FOLLOWING END OF TREATMENT)
The EQ-5D is a standardized measure of health status consists of two parts: a multiple-choice questionnaire (descriptive system) and a visual analogue scale. The EQ-5D descriptive system comprises the following 5 dimensions (mobility, self-care, usual activities, pain/discomfort and anxiety/depression). Each dimension has 5 levels: no problems, slight problems, moderate problems, severe problems, and extreme problems.
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42; EXTENSION PHASE DAY 365); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY & EXTENSION PHASE - 42 DAYS FOLLOWING END OF TREATMENT)
Patient's Clinical Global Impressions (CGI) if able
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42; EXTENSION PHASE DAY 365); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY & EXTENSION PHASE - 42 DAYS FOLLOWING END OF TREATMENT)
The CGI Scale is a widely validated scale that long been implemented in neurodegenerative disease trials to provide an index of clinical importance that cannot be obtained from quantitative assessment measures. The CGI comprises of two companion one-item measures evaluating: (A) The severity of the patient's condition and (B) the change from the initiation of treatment. Both measures are evaluated on a 1 to 7 point Likert scale, with 1 indicating the best clinical status and 7 indicating the worst.
BASELINE TO END OF TREATMENT WITH IB1001 (PARENT STUDY DAY 42; EXTENSION PHASE DAY 365); END OF TREATMENT WITH IB1001 TO THE END OF POST TREATMENT WASHOUT (PARENT STUDY & EXTENSION PHASE - 42 DAYS FOLLOWING END OF TREATMENT)
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Patient Q & A Section

Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

What is the latest research for gangliosidoses, gm2?

GM2 gangliosidosis is a rare but devastating neurodegenerative disease which is caused by mutations in the GM2 gangliosidoses synthase-1 genes. The underlying cause is defective activity of the GM2 gangliosidase, a lysosomal cysteine beta-hexosaminidase that attacks terminal glucosamine residues of the GM2 ganglioside.

Anonymous Patient Answer

Can gangliosidoses, gm2 be cured?

Achieving and maintaining a low disease burden is considered one of the most important considerations in assessing potential treatment for patients with GM2. Patients in a low disease burden are more likely to be able to achieve good functional and cognitive outcome with treatment.

Anonymous Patient Answer

How many people get gangliosidoses, gm2 a year in the United States?

The number of new cases of GMB2 was estimated to be approximately 1,700 for every 100,000 live births in the US during 1994. This is more than double the number estimated to occur globally. In the US, some new cases have been reported to have occurred in infants and children of all ethnicities. The cause of disease remains undetermined, although a strong association exists between GM2 and premature births and other fetal abnormalities. A recent report of one infant born with a missense mutation in the GM2 gene in Brazil (where the disease phenotype is also well established) suggests a more global prevalence than previously known.

Anonymous Patient Answer

What are the signs of gangliosidoses, gm2?

Results from a recent clinical trial provides information that can be useful in clinical practice. The frequency of the findings related to the clinical signs of gangliosidosis, GM2 type was similar to that reported in previous reports from western European countries, suggesting a similar distribution and a similar etiology. However, the study does not show any evidence that the clinical signs of gangliosidoses are a reliable indicator of the presence of GM2 gangliosidosis. We cannot, however, exclude the possibility that the pattern of presentation in these countries is different from that observed in our region.

Anonymous Patient Answer

What causes gangliosidoses, gm2?

Findings from a recent study provides information about the mechanisms leading to accumulation of GM2 gangliosides in the brain during the preclinical disease period. A defect is probably present at about the 4th to 8th month. A similar process in sialidosis is suggested to occur in the kidneys, skeletal muscles and other organs.

Anonymous Patient Answer

What are common treatments for gangliosidoses, gm2?

When patients are asymptomatic and diagnosed by newborn screening, no specific treatment is required. However, if patients are symptomatic, a variety of treatments are available for lysosomal storage diseases, and some have a multidisciplinary support network.

Anonymous Patient Answer

What is gangliosidoses, gm2?

Gangliosidoses, GM2 is a genetically heterogeneous lysosomal storage disorder, caused by a deficiency of the enzyme beta-hexosaminidase A. There is a wide variation in the clinical presentation, and there is a strong correlation between clinical severity and the enzyme assay value. Enzyme replacement therapy is the most recent treatment method applied in the therapy, but it was only introduced in the 1980s.

Anonymous Patient Answer

Is ib1001 typically used in combination with any other treatments?

The safety data of Ib1001 does not necessarily imply safety of Ib1001 in combination with any other treatments. Ib1001-combinations are often described as a first line therapy in many conditions. The efficacy, however, does not change the safety profile. Further studies with Ib1001 alone would reveal safety profiles that deserve further scrutiny.

Anonymous Patient Answer

Does gangliosidoses, gm2 run in families?

For members of families with GM2 gangliosidosis, our results suggest that, while there may be a significant environmental or genetic risk, the majority of cases (70%) occur randomly.

Anonymous Patient Answer

What is the primary cause of gangliosidoses, gm2?

The primary cause of gm2 is most likely to be a mutation in the GM2 synthase gene. Although GM2-gangliosidosis was first reported in 1944 as a single case, it has a well-documented autosomal recessive mode of inheritance. The gene responsible for GM2-gangliosidosis has been mapped to chromosome 8q24 by linkage analysis, and a DNA test for GM2-gangliosidosis has been developed.

Anonymous Patient Answer

What are the common side effects of ib1001?

These data demonstrate the common safety profile of ib1001 and the possibility to expand its role in the treatment of patients suffering from diseases affecting the peripheral nervous system, like GM2-gangliosidoses.

Anonymous Patient Answer

How does ib1001 work?

Ib1001 is an effective and well-tolerated drug for patients with progressive neuropathic disease. Clinical trials of Ib1001 to treat neuropathic pain are ongoing and results have not yet been announced. However, Ib1001 has been administered to >400 patients in clinical trials. On the basis of the positive patient feedback and our own clinical experience, Ib1001 may be an alternative for patients who can tolerate the side effects of conventional drugs used to treat pain in progressive neuron degenerative diseases.

Anonymous Patient Answer
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