On July 30, 2021, biopharmaceutical company Cyclo Therapeutics shared that it had released new and promising data regarding the safety, efficacy, and tolerability of Trappsol® Cyclo™ (“Trappsol Cyclo”) for patients with Niemann-Pick disease type C1 (NPC1). The treatment showed improvements in patient outcomes and stabilized disease state. Findings from the study were shared during the National Niemann Pick Disease Foundation Family Support & Medical Conference, held virtually this year due to COVID-19.
Trappsol Cyclo
According to Cyclo Therapeutics, Trappsol Cyclo is:
a proprietary formulation of hydroxypropyl beta cyclodextrin. Taking the place of the defective NPC1 protein, Trappsol Cyclo, with its cyclic structure, facilitates the transport of accumulated cholesterol out of cellular lysosomes so it can be further processed and excreted out of cells.
Thus far, Trappsol Cyclo received Orphan Drug, Fast Track, and Rare Pediatric Disease designations from the FDA, as well as Orphan Drug designation within Europe. It is also currently being evaluated in three separate clinical trials, such as TransportNPC. Additionally, moving forward, Cyclo Therapeutics will explore Trappsol Cyclo as a potential treatment for patients with Alzheimer’s disease.
Study Findings
However, for the purpose of this article, we will focus on the Phase 1 open-label extension study. Altogether, 8 patients enrolled between 2019-2020. During the study, patients, alongside a healthcare professional, received intravenous treatment at home. Findings from the trial include:
- Within the first 7 months of treatment, some patients already saw a more stable disease state, according to initial efficacy data. By July 2021, patients who were considered stable had received 1500 mg/kg or 2500 mg/kg Trappsol Cyclo respectively.
- To measure treatment efficacy, researchers used the 17-Domain NPC Severity Scale. This showed that 1 patient experienced improved hearing, while 3 patients had theirs worsen. Alternately, 1 patient saw improved memory and 3 saw improved ability to swallow, while 1 felt swallowing worsened.
- Alternately, researchers used the 5-Domain NPC Severity Scale to evaluate patient quality of life (QOL) and disease stabilization. During treatment, 3 patients remained stable and 3 worsened. 1 patient improved while 1 worsened significantly. However, researchers believe that for the 3 patients whose conditions worsened, their disease progression was not as severe as it would have been without treatment.
- Overall, Trappsol Cyclo was relatively safe and well-tolerated. No serious adverse reactions occurred during treatment.
Niemann-Pick Disease
There are multiple subtypes of Niemann-Pick disease, a group of rare inherited metabolic disorders: types A, B, and C. In each case, patients are unable to metabolize certain cholesterol and lipids. As a result, sphingomyelin builds up within cell lysosomes, causing health issues.
SMPD1 gene mutations cause types A and B, causing deficient or missing sphingomyelinase enzyme. Typically, Niemann-Pick disease type A occurs in infants and is fatal within the first few years of life. Patients with this form often experience severe and progressive brain disease. Alternately, type B is not associated with brain disease and often manifests in late childhood. Unlike type A, patients with type B may live into adulthood. Then, NPC1 or NPC2 mutations cause Niemann-Pick disease type C (NPC). Regardless, these gene mutations are inherited in an autosomal recessive pattern. This means patients must inherit one defective gene from each parent in order to develop Niemann-Pick disease.
Symptoms associated with Niemann-Pick disease vary based on subtype and parts of the body affected. However, some symptoms may include:
- Enlarged bone marrow cavities
- Thrombocytopenia (low platelet count)
- Abdominal distention
- Frequent infections
- Ataxia
- Hypotonia (low muscle tone)
- Appetite loss
- Difficulty swallowing or speaking
- Loss of cognitive skills
- Seizures
- Impaired eye movements
- Enlarged spleen and liver
Learn more about Niemann-Pick disease.
