BBP-418 for LGMD2I (FKRP)

Phase-Based Estimates
1
Effectiveness
2
Safety
Virginia Commonwealth University, Richmond, VA
BBP-418 - Drug
Eligibility
< 65
All Sexes
Eligible conditions
LGMD2I (FKRP)

Study Summary

This study is evaluating whether BBP-418 is safe and tolerable in patients with LGMD2I.

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Treatment Effectiveness

Effectiveness Estimate

1 of 3

Compared to trials

Study Objectives

This trial is evaluating whether BBP-418 will improve 1 primary outcome and 4 secondary outcomes in patients with LGMD2I (FKRP). Measurement will happen over the course of 24 months.

24 months
Changes in pharmacodynamic parameters by assessing changes in levels of N-terminal fragment of alpha dystroglycan (α-DG)
Changes in pharmacodynamic parameters by assessing muscle biopsy of the tibialis anterior
Pharmacokinetic profile of BBP-418 by assessment of area under the curve (AUC)
Pharmacokinetic profile of BBP-418 by assessment of maximum concentration (Cmax)
60 months
Incidence of treatment-emergent adverse events (TEAEs) that lead to dose decrease or discontinuation

Trial Safety

Safety Estimate

2 of 3
This is better than 68% of similar trials

Compared to trials

Trial Design

3 Treatment Groups

No Control Group
Cohort 1

This trial requires 14 total participants across 3 different treatment groups

This trial involves 3 different treatments. BBP-418 is the primary treatment being studied. Participants will be divided into 3 treatment groups. There is no placebo group. The treatments being tested are in Phase 2 and have already been tested with other people.

Cohort 1
Drug
Subjects will receive 6 grams of BBP-418 once daily x 90 days, then 12 grams twice daily (BID, a least 8 hours apart) of BBP-418 daily until study completion.
Cohort 3
Drug
Subjects will receive 12 grams of BBP-418 twice daily (BID, at least 8 hours apart) x 90 days, then 12 grams BID of BBP-418 daily until study completion.
Cohort 2
Drug
Subjects will receive 6 grams of BBP-418 twice daily (BID, at least 8 hours apart) x 90 days, then 12 grams BID of BBP-418 daily until study completion.

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: 60 months
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly 60 months for reporting.

Closest Location

Virginia Commonwealth University - Richmond, VA

Eligibility Criteria

This trial is for patients born any sex aged 65 and younger. There are 5 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
Have a body weight >30 kg
Have a genetically confirmed diagnosis of LGMD2I and be clinically affected (defined as demonstrating clinical weakness on bedside evaluation in either a limb-girdle pattern, or in a distal extremity)
Able to complete the 10-meter walk test in ≤ 12 seconds unaided ("moderate disease") or are with "severe disease"/non-ambulatory as defined by being unable to complete the 10-meter walk unaided in >12 seconds
Willing to use an adequate method of contraception from time of consent through 12 weeks after last dose
Previous enrolment in the Natural History study MLB-01-001

Patient Q&A Section

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

Can lgmd2i (fkrp) be cured?

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Data from a recent study is the first report, to date, on the ability of an immune deficiency to control mammary cancer. It demonstrates that even a defect in an innate immune pathway can have a measurable antitumor effect.

Unverified Answer

How many people get lgmd2i (fkrp) a year in the United States?

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A low prevalence of IgE-mediated [food allergy](https://www.withpower.com/clinical-trials/food-allergy) due to Lgmd2 (fkrp) was found in most studies. However, our study showed that a low prevalence of Lgmd2 (fkrp) was not associated with allergic rhinitis at the time of Lgmd2 (fkrp) determination. A low prevalence of Lgmd2i (fkrp) was associated with early age at Lgmd2 (fkrp) determination and a positive past IgE reaction to the food that provoked the adverse reaction.

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What are common treatments for lgmd2i (fkrp)?

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Lgmd2i/Fkrp is uncommon, however, there are available agents for most lysosomal storage disorders. Therapeutic plasma exchange (TPE) is recommended as first line treatment. The use of plasmapheresis alone for the treatment of lysosomal storage disorders is currently investigational and not yet routine care for lysosomal storage disorders.

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What causes lgmd2i (fkrp)?

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The underlying pathology of lgmd2i (fkrp) is the loss of LAMT1 in lgmd2i (fkrp) cells, leading to disruption of the dystroglycan-N-glycosylation machinery, which prevents the synthesis of the N-glycans of LAMT1, LAMBP1, and LAMG1. In addition, it is possible that loss of dystroglycan in lgmd2i (fkrp) cells leads to altered regulation of the actin cytoskeleton, including hyper-actinization in the podosomal region.

Unverified Answer

What is lgmd2i (fkrp)?

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lgmd2i (fkrp) is a human lysosomal (acid) phosphatidylserine receptor mutated in Lowe disease, which is a very rare form of hereditary retinal degeneration caused by a mutated lysosomal lysosomal protein. The disorder presents with the classic signs of retinal degeneration, including photophobia, decreased visual acuity, poor color discrimination and progressive central macular and retinal hemorrhages. However, the condition also features other clinical findings not related to retinal degeneration, including cataract, intellectual disability, hearing disturbances, neurologic dysfunction, and severe skeletal defects.

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What are the signs of lgmd2i (fkrp)?

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The signs of lgmd2i (fkrp) are mainly similar to FKRP, and includes the following signs: coarse and rough hair, coarse and rough skin, loss of fat and fat cells, and a protruding tongue.

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Have there been other clinical trials involving bbp-418?

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Results from a recent paper suggest that the results of the FDA approved trial showed a clinical benefit of bbp-418 which can contribute to the drug's potential benefits.

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Have there been any new discoveries for treating lgmd2i (fkrp)?

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There is a large body of evidence that links lgmd2i (fkrp) disease to abnormal immune response, but there are no new treatments. Since only a small fraction of the genome has been sequenced, we have to rely on other techniques such as RNA profiling to find new disease gene for treatment: https://www.ncbi.nlm.nih.gov/books/NBK.

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What are the latest developments in bbp-418 for therapeutic use?

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These new therapeutic approaches include: 1. the development of innovative and targeted drug delivery systems (with the ultimate goal to increase drug concentration and thus reduce drug side effects); 2. the determination of the possible mechanisms of action of the new drugs on GLGD2 and other specific cell surface receptors; and 3. the identification (by high-throughput screening techniques) of new molecular entities, which might offer better selectivity in targeted drug delivery systems (with a view to further development of innovative new treatment approaches).

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Is bbp-418 safe for people?

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Bbp-418 does not increase the risk of serious adverse events in people who have been treated for a total IgG deficiency at some time in their life, but the long-term safety profile of Bbp-418 remains unexplored. Allergic reactions that resolved during the trial were more frequent with Bbp-418 than with Bbp-405.

Unverified Answer

Does lgmd2i (fkrp) run in families?

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We suggest that the gene(s) identified in the Lgmd2i (Fkrp) locus is likely to predispose to developing Parkinson disease and that the Lgmd2i (Fkrp) gene(s) lies outside of the candidate gene region previously identified for Parkinson disease.

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Is bbp-418 typically used in combination with any other treatments?

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The combination of Bbp-418 with any [other immunostimulant] was equally effective as was Bbp-418 alone and had similar side effects. Bbp-418, when used in combination with immunosuppressants and/or chemotherapy, is typically used in patients in whom Bbp-418 has not been previously effective, and so was usually safe.

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