Rare Diseases: Ongoing Clinical Trials for Cystic Fibrosis, Huntington’s Disease, Pompe Disease, Niemann-Pick Disease and Alkaptonuria

Clinical trials fall under the broad classification of “clinical research.” Clinical trials are research projects carried out on human subjects and intended to assess a medical, surgical, or behavioral intervention. They are the main method researchers use to determine whether a new treatment, such as a new medication, diet, or piece of medical equipment (such as a pacemaker), is safe, appropriate, and effective in humans. A clinical trial is frequently performed to determine whether a new treatment is more efficient than the current treatment and/or has fewer negative side effects. Some clinical studies examine methods for detecting diseases early on, often even before symptoms appear. Others research strategies to avoid health issues.  A clinical trial may also focus on improving the quality of life for those with chronic health issues or life-threatening illnesses. Clinical trials occasionally investigate the function of caregivers or support networks. Below are some rare diseases and information about ongoing trials.

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Patient in Clinical Trial

Patient in Clinical Trial

Cystic fibrosis

A phase 4 clinical trial is currently being conducted by the Cystic Fibrosis Foundation to assess the safety and effectiveness of galifactor/navofactor/ABBV-576 combination therapy. They are immunomodulators targeted at improving the function of cystic fibrosis transmembrane conductance regulator (CFTR) protein.  This protein is responsible for maintaining salt and water balance in many cells in the body; it functions as a regulator of chloride ion and bicarbonate channels in many epithelial cell membranes. Mutations in the gene that codes for the protein cause a buildup of mucus in the lungs, pancreas, sweat glands, and other organs, leading to cystic fibrosis. The study involves adults who have at least one F508del mutation and are on stable elixacaftor, tezacaftor, and ivacaftor (TRICAFTA) combination treatment. Participants will receive the galifactor/navofactor/ABBV-576 therapy once a day for a 28-day period; no placebo is being used for this trial. Sweat chloride and lung function tests will be used to evaluate the trial drug’s efficacy. Clinic visits, blood testing, lung function tests, screening for side effects, and the completion of questionnaires may all be necessary for this study.

Enrollment criteria

Age: 18 years and above

Mutation(s): two copies of F508del or one copy of F508del

FEV1% predicted: 40-90%

Prior to beginning treatment with Abbvie’s triple combination modulator for 28 days, participants must be willing to cease using Trikafta.  During the trial treatment period, people may resume ETI therapy. Click link to enroll.

Huntington’s disease

The John Hopkins Medical Center is currently enrolling participants in a phase 3 clinical trial to investigate the drug pridopidine as a therapeutic option for Huntington’s disease. The study is designed to enroll up to 480 international participants with early-stage Huntington’s disease. The trial participants will be randomly assigned to receive either a placebo, taken twice daily as a control or an oral capsule containing 45 mg of pridopidine. The trial will extend for 65 to 78 weeks (15 to 18 months), with an optional open-label extension phase for patients who wish to continue receiving treatment after that. During this phase, all participants will receive pridopidine.

Enrollment criteria

Age: 25 and above

A confirmed diagnosis of early-stage adult-onset Huntington’s disease.

Follow this link for more info.

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Pompe disease

Enrollment is currently open for a study to assess the effectiveness, safety, pharmacokinetics, and pharmacodynamics of the drug avalglucosidase alfa in treating naive male and female participants who have infantile-onset Pompe disease (IOPD). Avalglucosidase alfa is an enzyme replacement therapy for treating Pompe disease. Due to lysosomal acid alpha-glucose enzyme deficiency, people with Pompe disease accumulate a complex sugar called glycogen in their hearts and skeletal muscles, which results in muscle weakening and early death from respiratory or cardiovascular failure. It is a phase 3 single-group, open-label, and treatment study.

Enrollment criteria

Age: 0 to 12 months

confirmed diagnosis of infantile IOPD

Prior to enrollment, participants must have their cross-reactive immunological material (CRIM) status determined.

At the time of diagnosis, participants must have cardiomyopathy.

The parent(s) or representative(s) must be able to give written, informed consent.

For more information, click this link.

Niemann-Pick disease

A double-blind, randomized, placebo-controlled study is currently recruiting participants with a confirmed diagnosis of Neimann-Pick disease type C1 (NPC1). The aim of the study is to assess the safety, efficacy, and tolerability of a 2000 mg/kg dose of Trappsol Cyclo (hydroxypropyl betacyclodextrin) given via the intravenous route compared to the standard of care. In Neimann-Pick disease, there is a mutation of the gene that codes for the lysosomal enzyme acid sphingomyelinase, which breaks down sphingomyelin, which is a type of lipid. This resulting deficiency leads to the accumulation of lipids in the cells. Trappsol Cyclo is a drug that facilitates the breakdown of these lipids.

Enrollment criteria

Age: 3 years and above

confirmed diagnosis of NPC1

Manifesting at least 1 neurological symptom of the disease

Written informed consent

Click here for more info.

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Alkaptonuria

The national human genome research institute(NHGRI) is currently enrolling interested participants in a study that is aimed at gaining a better understanding of alkaptonuria and gathering medical information on patients who might eventually take part in new therapeutic trials for this uncommon hereditary condition.  According to the findings of this study, doctors will be able to provide patients with alkaptonuria with greater information about their condition and available treatments. Also, it will pave the way for clinical trials of a novel medication that prevents the synthesis of homogentisic acid.

Enrollment criteria

Age: 2 years and above

Confirmed diagnosis of alkaptonuria

For more information, click here.

Conclusion

Rare genetic diseases affect people all over the world. The clinical trials are aimed at deriving cures, bringing up new treatment options, and improving the management of these diseases.

References

https://www.nia.nih.gov/health/what-are-clinical-trials-and-studies

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