Progress Now: Research Updates and Breakthroughs

Amyotrophic lateral sclerosis (ALS)

Phase 1 Clinical Trial: Recruiting

This study, called LUMINA, is testing an investigational therapy, called AMX0114, in adults with ALS. The main goal is to learn about safety and how well the treatment is tolerated. The study will also look for early signs that the therapy may help people with ALS.

Inclusion criteria include:

• At least 18 years of age
• Diagnosis of clinically definite or clinically probable ALS
• ALS symptoms began less than 24 months before starting the study

Overview

AMX0114 is designed to lower levels of calpain-2, an enzyme linked to nerve cell damage in people living with sporadic ALS. The researchers hope that reducing calpain-2 will help slow the progression of ALS.

This is a randomized, double-blind, placebo-controlled study, meaning some participants will receive AMX0114 and others will receive a placebo (an inactive substance). AMX0114 is delivered with an intrathecal injection (an injection into the fluid around the spinal cord in the lower back).

Timeframe

The total duration will be 25 weeks.

Location

14 sites in the US and Canada

Learn more

Visit ClinicalTrials.gov and enter NCT06665165 in the “Other terms” search box.

Contact

Amylyx Medical Director, 857-320-6200 or ClinicalTrials@amylyx.com

[H4] Phase 2a Clinical Trial: Results

Spinogenix, Inc., released topline results from a phase 2a study of an experimental therapy called SPG302. The data suggest it may help slow ALS progression.

Overview

In ALS, the connections between nerve cells, called synapses, start to break down. When synapses weaken or disappear, the cells cannot send nerve signals as well.

SPG302 is designed to help the body grow new synapses. Researchers hope that by building new connections between nerve cells, SPG302 may ease ALS symptoms and slow the progression of the disease.

Key points

• SPG302 is a pill taken by mouth.
• This was a randomized, double-blind, placebo-controlled study.
• In this study, SPG302 was taken daily and was generally well-tolerated.
• Most participants who received SPG302 had a stable or improved rate of functional decline.
• Compared with past data, people treated with SPG302 showed a significantly slower disease progression over six months.
• Brain electrical activity tests showed improvements in patterns linked to ALS, which may support the findings of slower functional decline.

Learn more

Visit ClinicalTrials.gov and enter NCT05882695 in the “Other terms” search box.

Duchenne muscular dystrophy (DMD)

Treatment News: New Drug Available

In December, Upsher-Smith Laboratories launched Kymbee, a new deflazacort oral tablet for people ages 5 and older with DMD. Kymbee provides another option for a widely used DMD corticosteroid treatment.

Overview

Corticosteroids like deflazacort have been a key part of DMD treatment for decades. In DMD, corticosteroids can reduce muscle damage and help patients keep physical abilities longer.

Kymbee is a new oral tablet form of deflazacort, which is also available under the brand name Emflaza in tablet and liquid forms.

Patients taking Kymbee will have access to Upsher-Smith’s Promise of Support program, which was created to help rare disease patients and families access medication and manage insurance challenges.

Learn more

Visit MyKymbee.com.

Contact

Upsher-Smith, 888-650-3789

Friedreich ataxia (FRDA)

Extension Study: Results

Larimar Therapeutics announced positive data from an ongoing long-term open-label extension study of an experimental therapy, called nomlabofusp, for FRDA. Results suggest that taking nomlabofusp every day may help improve symptoms.

Overview

The open-label extension study began in 2024 by enrolling adults who had completed earlier phase 1 or phase 2 nomlabofusp studies. Later, it expanded to include adolescents ages 12-17 and other participants who had not previously received nomlabofusp.

In FRDA, the body does not make enough frataxin, a protein needed for healthy cell function. Nomlabofusp is designed to deliver a form of frataxin made in a lab. The goal of increasing frataxin levels is to support energy production in cells and potentially ease FRDA symptoms.

Key points

• Nomlabofusp is administered as a daily subcutaneous injection (a shot under the skin).
• It can be given by the patient or a caregiver.
• All participants with at least six months of data had frataxin levels closer to typical healthy levels.
• After about one year of treatment, participants showed clinical improvement in FRDA symptoms.
• Nomlabofusp was generally well-tolerated, but a few serious allergic reactions occurred, prompting Larimar Therapeutics to modify the dosing regimen going forward.

Learn more

Visit larimartx.com/our-programs/cti-1601 or go to ClinicalTrials.gov and enter NCT06447025 in the “Other terms” search box.

Limb-girdle muscular dystrophy (LGMD)

Phase 3 Clinical Trial: Results

BridgeBio Pharma announced new interim results from a phase 3 clinical trial testing BBP-418, an experimental therapy for LGMD2I or LGMDR9 (LGMD2I/R9). BBP-418 showed signs of improving walking ability and lung function in people living with this condition.

Overview

The results came from the phase 3 FORTIFY trial. This study is testing BBP-418 against a placebo in adults and adolescents with LGMD2I/R9. BBP-418 is taken my mouth as a liquid solution.

LGMD2I/R9 is caused by mutations in a gene that makes an enzyme called FKRP. FKRP is needed for a process called glycosylation, where the body attaches sugar molecules to certain proteins. In LGMD2I/R9, a muscle protein called alpha-dystroglycan does not get the right sugar molecules attached.

Without proper glycosylation, the protein does not work as it should. This makes muscles more likely to become damaged over time, especially in the hips and shoulders. BBP-418 is designed to help the body increase alpha-dystroglycan glycosylation to protect muscles from damage.

Key points

• This was a randomized, placebo-controlled, double-blind study.
• The trial achieved its primary goal of showing BBP-418 increases alpha-dystroglycan glycosylation.
• BBP-418 also significantly reduced levels of creatine kinase (CK), a key marker of muscle damage.
• After one year, participants taking BBP-418 had better results on walking and lung function tests compared to participants in the placebo group.

Learn more

Visit bridgebio.com/lgmd2i-r9 or go to ClinicalTrials.gov and enter NCT05775848 in the “Other terms” search box

Myasthenia gravis (MG)

Phase 3 Clinical Trial: Recruiting

This study, called MyClad, is testing an investigational therapy, called cladribine, in adults with generalized MG (gMG). The goal is to see if it improves gMG symptoms and the ability to carry out activities of daily living.

Inclusion criteria include:

• At least 18 years of age
• Diagnosis of MG with generalized muscle weakness

Overview

In MG, the immune system damages or destroys receptors that help the body control muscles. Cladribine is designed to recognize and remove some types of immune cells that are attacking these receptors.

This is a randomized, double-blind, placebo-controlled study, which means that participants may receive either cladribine or a placebo (an inactive substance). The drug is taken by mouth.

Timeframe

The study will take approximately three years and involve a total of 23 site visits and telehealth calls.

Location

71 global sites, including 14 in the US

Learn more

Visit MyCladStudy.com or go to ClinicalTrials.gov and enter NCT06463587 in the “Other terms” search box.

Contact

EMD Serono, US Medical Information, 888-275-7376 or eMediUSA@emdserono.com

[H4] Phase 1/2 Clinical Trial: Recruiting

Cour Pharmaceuticals is recruiting adults with gMG for a study testing an experimental treatment, called CNP-106. The goal is to test the safety of CNP-106 and see if it can reprogram the immune system, addressing the underlying cause of gMG.

Inclusion criteria include:

• 18-75 years of age
• A gMG diagnosis and positive test for anti-AChR antibodies
• Participants must agree not to become pregnant or cause pregnancy during the clinical study.

Overview

Often in gMG, the immune system targets acetylcholine receptors (AChR), which are essential for communication between nerves and muscles. CNP-106 is a small, biodegradable particle that carries pieces of AChR. It is designed to instruct the immune system to recognize them so it does not consider them a threat. This should restore nerve-to-muscle communication and ease the symptoms of gMG.

This is a randomized, double-blind, placebo-controlled study, which means that participants may receive either CNP-106 or a placebo (an inactive substance).

Timeframe

The study involves up to 42 days for screening and 180 study days. Participants will receive the therapy via two IV infusions (a tube into the vein), spaced one week apart.

Location

17 sites in the US

Learn more

Visit CourPharma.com/patients/cnp-106-clinical-trial-in-myasthenia-gravis or go to ClinicalTrials.gov and enter NCT06106672 in the “Other terms” search box.

Contact

Joseph Mide, 281-254-6305 or jmide@CourPharma.com

Spinal muscular atrophy (SMA)

Treatment News: Drug Approval

In November, the US Food and Drug Administration (FDA) approved a gene therapy, called onasemnogene abeparvovec-brve (brand name Itvisma), for people ages 2 years and older living with SMA.

Overview

Itvisma is a formulation of Zolgensma, a gene therapy previously approved by the FDA for infants with SMA. Itvisma is the first gene therapy available for older children, teens, and adults with a confirmed mutation in the SMN1 gene.

Itvisma is a one-time treatment delivered with an intrathecal injection (an injection into the fluid around the spinal cord in the lower back).

Learn more

Visit itvisma.com.

Contact

Novartis Patient Support, 855-441-4363

Thymidine kinase 2 deficiency (TK2d)

Treatment News: Drug Approval

In November, the US Food and Drug Administration (FDA) approved a new therapy, called doxecitine and doxribtimine (brand name KYGEVVI®), for children and adults living with TK2d. This is first and only treatment for TK2d, an ultra-rare, life-threatening mitochondrial myopathy.

Overview

Individuals with TK2d lose a number of mitochondrial DNA molecules and the quality of their mitochondrial DNA degrades, causing progressive weakness. KYGEVVI® is designed to help the body restore healthy mitochondrial DNA. KYGEVVI® is taken by mouth as a liquid solution.

Learn more

Visit kygevvi.com.

Contact

UCB Cares, 844-599-2273 or UCBCares@ucb.com

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Clinical Trial Terms to Know

Double-blind: Neither researchers nor participants know which participants are taking the drug or placebo.

Multiarm: Comparing several experimental treatments against a common control group within a single study.

Multicenter: The trial is completed at more than one site.

Open-label: Participants know what treatment they are receiving.

Placebo-controlled: Some participants receive the treatment being tested and some receive a placebo that looks like the real treatment but has no active ingredients.

Randomized: Participants are randomly assigned to groups taking the drug or placebo.