Nomlabofusp for Friedreich's Ataxia

Overseen By Kerri Gallagher, RN, B

Age: < 18

Sex: Any

Trial Phase: Phase 1

Sponsor: Larimar Therapeutics, Inc.

Must not be taking: Omaveloxolone

Disqualifiers: Compound heterozygous FRDA, cardiac condition, others

Compensation: Varies

Number of Visits: 7

Duration: 1 week

30 Participants Needed

Trial Summary

What is the purpose of this trial?

The goal of this clinical trial is to evaluate the safety and tolerability of nomlabofusp (CTI-1601) in adolescents and children with Friedreich's ataxia (FRDA).

Will I have to stop taking my current medications?

The trial does not specify if you need to stop taking your current medications, but you cannot have taken omaveloxolone within 30 days before the trial starts.

How does the drug Nomlabofusp differ from other treatments for Friedreich's Ataxia?

Nomlabofusp may offer a novel approach to treating Friedreich's Ataxia by potentially addressing the processing of frataxin protein, which is not effectively increased by current treatments. This could provide a new way to modify the disease, especially for patients with specific mutations that affect frataxin processing. ^{1 2 3 4 5}

Research Team

Larimar Therapeutics, Inc.

Principal Investigator

Larimar Therapeutics, Inc.

Eligibility Criteria

This trial is for children and adolescents aged 2 to less than 18 with genetically confirmed Friedreich's ataxia. They must be able to move 25 feet, perform basic self-care, and weigh at least 10 kg. Those with heart conditions or who have taken omaveloxolone recently cannot participate.

Inclusion Criteria

I can walk 25 feet with some help and can sit up, move from bed to chair, and take care of myself.

I weigh at least 10 kilograms.

I am between 2 and 17 years old.

Exclusion Criteria

I do not have any health conditions that could risk my safety in the study.

I have taken omaveloxolone within the last 30 days.

I have been diagnosed with Friedreich's ataxia with a specific genetic feature.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive a subcutaneous injection of nomlabofusp or placebo once daily for 7 days

1 week

7 visits (in-person)

Follow-up

Participants are monitored for safety and effectiveness after treatment

up to 72 days

Treatment Details

Interventions

• Nomlabofusp

Trial Overview The study tests the safety of a drug called Nomlabofusp (CTI-1601) against a placebo in young patients with Friedreich's Ataxia. It aims to see how well they tolerate the medication over time.

Participant Groups

Group I: Nomlabofusp Experimental Treatment 1 Intervention

Subcutaneous injection of 0.8 mg/kg, with a maximum dose of 50 mg, once daily for 7 days

Group II: Placebo Placebo Group 1 Intervention

Subcutaneous injection once daily for 7 days

Who Is Running the Clinical Trial?

Larimar Therapeutics, Inc.

Lead Sponsor

Trials

7

Recruited

270+

Findings from Research

Friedreich ataxia is a genetic degenerative disease that mainly impacts the nervous system and heart, and its full understanding has evolved since the introduction of genetic testing in 1996.

Research into the complex causes of Friedreich ataxia is aiding the development of new treatments, highlighting the importance of genetic insights in addressing this condition.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Friedreich ataxia. Pandolfo, M.[2008]

Friedreich's ataxia is linked to a wide range of GAA trinucleotide repeat expansions, with patients showing between 66 to 1360 repeats, and the number of repeats correlates with disease onset and progression.

The study suggests that molecular genetic testing is essential for diagnosing Friedreich's ataxia, as the phenotypic presentation can vary significantly, and some patients may not show the typical symptoms associated with the disorder.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Schöls, L., Amoiridis, G., Przuntek, H., et al.[2023]

A study involving 11 patients with Friedreich's ataxia (FA) revealed that traditional clinical tests for joint position sense (JPS) and vibration sense (VS) may underestimate proprioceptive deficits, as all patients showed impairments in a more sensitive spatial position sense (SPS) test.

The SPS test not only detected deficits earlier than standard tests but also correlated positively with the severity of ataxia, suggesting that proprioceptive issues in FA patients are more severe and start earlier than previously recognized.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Routine clinical testing underestimates proprioceptive deficits in Friedreich's ataxia. Borchers, S., Synofzik, M., Kiely, E., et al.[2021]

The study identifies a novel missense mutation, frataxinW168R, in Friedreich's ataxia patients, which results in the production of an intermediate form of frataxin that does not mature properly, indicating a specific defect in frataxin processing.

Despite the frataxinW168R being localized to mitochondria, increasing levels of the precursor form do not enhance the production of the mature frataxin, suggesting that new therapeutic strategies are needed to address this processing issue for effective treatment.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Identification of a novel missense mutation in Friedreich's ataxia -FXNW 168R. Clark, E., Strawser, C., Schadt, K., et al.[2023]

In a study of 592 patients with genetically confirmed Friedreich's ataxia, earlier disease onset was linked to a higher number of GAA repeats in the frataxin gene, resulting in an earlier onset of symptoms by approximately 2.3 years for every 100 GAA repeats.

The study found that patients with early and intermediate onset experienced a significantly faster decline in ataxia symptoms, as measured by the Scale for the Assessment and Rating of Ataxia (SARA), compared to those with late onset, indicating that age of onset is crucial for understanding disease progression and designing clinical trials.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Reetz, K., Dogan, I., Costa, AS., et al.[2022]

References

1. United States pubmed.ncbi.nlm.nih.gov

Friedreich ataxia. [2008]

2. England pubmed.ncbi.nlm.nih.gov

Friedreich's ataxia. Revision of the phenotype according to molecular genetics. [2023]

3. United States pubmed.ncbi.nlm.nih.gov

Routine clinical testing underestimates proprioceptive deficits in Friedreich's ataxia. [2021]

4. United States pubmed.ncbi.nlm.nih.gov

Identification of a novel missense mutation in Friedreich's ataxia -FXNW 168R. [2023]

5. England pubmed.ncbi.nlm.nih.gov

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. [2022]