Biotinidase deficiency Trials in Disease

Study on the Effectiveness of Biotin and Biotin Sodium for Children with Metabolic Disorders

This clinical trial is examining different forms of biotin treatment for children with rare metabolic conditions, including biotinidase deficiency and methylcrotonylglycinuria. The study aims to determine which form of biotin is better tolerated by children and easier for them to take consistently.

Who can participate:

• Children between 3 and 18 years old, both boys and girls
• Patients diagnosed with biotinidase deficiency or methylcrotonylglycinuria
• Currently being treated with Medebiotin tablets or injectable biotin solution
• Outpatients who do not need overnight hospital stays
• No swallowing difficulties
• Good treatment adherence over the past year with no metabolic decompensation, meaning their body has been able to maintain normal metabolic processes without significant health setbacks

Who cannot participate:

• Children without the specific conditions of biotinidase deficiency or methylcrotonylglycinuria
• Patients outside the specified age range
• Children unable to take chewable tablets
• Patients not receiving treatment at the participating hospital
• Patients considered part of a vulnerable population requiring special protection

What the trial involves: The study compares two forms of biotin treatment. The first is the commercial biotin drug, commonly prescribed as Medebiotin tablets or injectable solution. The second is a specially prepared chewable biotin formula created by the Pharmacy Service at Hospital Clínico Universitario de Santiago de Compostela. This chewable form has been designed to make it easier and more pleasant for children to take their medication.

The trial will last up to eight weeks. During this time, researchers will monitor how well children tolerate each treatment option and track any symptoms they experience. This includes using a visual scale and collecting information on symptoms reported by the children. Additional evaluations will measure organic acids and plasma biotin levels to assess how effectively the treatment is working.

Investigational treatments: Both forms of biotin being tested work as supplements to help the body process fats, carbohydrates, and proteins properly. Biotin acts as a coenzyme for important metabolic enzymes. The commercial version is the standard treatment currently prescribed, while the chewable formula represents a potentially more child-friendly alternative that may improve treatment adherence.

The trial is expected to begin in early 2025 and conclude by October 31, 2025. The goal is to determine whether the new chewable formula can help children stick to their treatment plan more easily than the standard commercial medication.

Summary

Currently, only one clinical trial is actively recruiting patients with biotinidase deficiency. This trial is taking place in Spain and focuses specifically on pediatric patients between ages 3 and 18. The study represents an important effort to improve treatment adherence in children with rare metabolic disorders by developing more patient-friendly medication formulations. The focus on comparing a specially designed chewable biotin formula against standard commercial preparations reflects a practical approach to addressing the challenges families face in managing these chronic conditions. For families of children with biotinidase deficiency seeking to participate in research, this Spanish trial currently represents the only active option available.