Not yet recruitingRare disease

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

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial focuses on two rare metabolic diseases: methylcrotonylglycinuria and biotinidase deficiency. These conditions affect how the body processes certain substances, leading to various health issues. The study will use a treatment involving biotin, a type of vitamin that helps the body convert food into energy. The trial will compare the usual commercial biotin drug with a specially prepared chewable biotin formula to see which is better tolerated by children.

The purpose of the study is to improve the care and treatment adherence in children diagnosed with these rare diseases. Participants will receive either the commercial biotin drug or the chewable biotin formula. The study will last for up to eight weeks, during which the children's response to the treatment will be monitored. The trial aims to find out if the new chewable formula can make it easier for children to stick to their treatment plan.

Throughout the study, researchers will collect information on how well the children tolerate the treatments and any symptoms they report. This will help determine if the chewable biotin formula is a better option for children with these conditions. The trial is set to begin in early 2025 and is expected to conclude by the end of October 2025.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Initial assessment
The trial begins with an initial assessment to confirm eligibility. This includes verifying the diagnosis of either methylcrotonylglycinuria or biotinidase deficiency.
The patient must be between 3 and 18 years old and have no swallowing problems. The patient should have shown good compliance with previous treatments, with no metabolic decompensation in the last year.
Step 2
Treatment allocation
Patients will be assigned to receive either the commercial biotin drug or a personalized biotin master formula. The commercial drug is available as Medebiotin tablets or an injectable solution.
The personalized biotin master formula is a chewable formulation prepared specifically for the patient.
Step 3
Medication administration
The medication is administered orally. The specific dosage and frequency will be determined by the healthcare provider based on the patient's needs.
The treatment aims to improve adherence and care in pediatric patients with the specified rare metabolic diseases.
Step 4
Monitoring and evaluation
Throughout the trial, the patient's response to the treatment will be monitored. This includes using a visual scale and collecting subjective symptoms reported by the patient.
Secondary evaluations will include determining organic acids and measuring plasma biotin levels to assess the treatment's effectiveness.
Step 5
Completion of trial
The trial is expected to conclude by October 31, 2025. At the end of the trial, the collected data will be analyzed to compare the tolerability and effectiveness of the commercial biotin drug versus the personalized biotin master formula.

Who can join the trial?

7 criteria

The patient must be an outpatient, meaning they do not need to stay overnight in the hospital.
Both boys and girls can participate.
The patient should be between 3 and 18 years old, including both ages.
The patient must have a diagnosis of one of the two rare metabolic diseases being studied: methylcrotonylglycinuria or biotinidase deficiency. These are conditions that affect how the body processes certain substances.
The patient should be treated with Medebiotin tablets or an injectable solution, which are forms of the vitamin biotin used to manage these conditions.
The patient must not have any problems swallowing at the time their parent(s) or guardian(s) sign the informed consent document.
The patient should have followed their treatment plan well over the past year, meaning they have not had any metabolic decompensation. This term refers to a situation where the body cannot maintain normal metabolic processes, leading to health issues.

Who cannot join the trial?

5 criteria

Patients who do not have the specific conditions of **Metilcrotonilglicinuria** or **biotinidase deficit** cannot participate. These are rare genetic conditions that affect how the body processes certain substances.
Patients who are not within the age range specified for the study. The study is focused on pediatric patients, which means children.
Patients who are not able to take the medication in the form provided, which is a chewable tablet.
Patients who are not receiving treatment at the specific hospital where the study is being conducted.
Patients who are part of a vulnerable population, which means they might need special protection or care, are not included in this study.

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Universidade De Santiago De Compostela
Santiago De Compostela, Spain

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Investigated drugs

Biotin (commercial drug)
is a medication commonly prescribed to pediatric patients to help manage certain metabolic disorders. In this clinical trial, the commercial version of biotin is being used to assess its tolerability in children with rare diseases. The goal is to see how well children can handle this form of the medication as part of their usual treatment.
Biotin (master formula, chewable formulation)
is a specially prepared version of biotin created by the Pharmacy Service at the Hospital Clínico Universitario de Santiago de Compostela. This chewable form is designed to be easier for children to take, with the aim of improving their adherence to the treatment. The trial is comparing this formulation to the commercial version to determine which is better tolerated by pediatric patients.

Biotin

What is already known about the treatment

Biotin – Biotin is administered orally, often in tablet or chewable form, and is used to treat conditions like biotinidase deficiency and methylcrotonylglycinuria. It is a well-established vitamin in medical literature, known for its role in supporting metabolic processes. The main therapeutic indication for biotin is to supplement individuals with a deficiency, which can lead to metabolic disorders. At the molecular level, biotin acts as a coenzyme for carboxylase enzymes, which are crucial for the metabolism of fats, carbohydrates, and proteins. It is classified pharmacologically as a vitamin, specifically a B-complex vitamin.

Investigated diseases

3-Methylcrotonyl-CoA Carboxylase Deficiency
This is a rare metabolic disorder where the body cannot properly process certain proteins and fats due to a deficiency in a specific enzyme. It can lead to the accumulation of harmful substances in the body. Symptoms may include feeding difficulties, vomiting, lethargy, and developmental delays. The condition is usually identified in infancy or early childhood. It is a genetic disorder, meaning it is inherited from one's parents. Management often involves dietary adjustments to limit the intake of certain proteins.
Biotinidase Deficiency
This is a rare genetic disorder where the body is unable to recycle the vitamin biotin effectively. Biotin is essential for the metabolism of fats, carbohydrates, and proteins. Symptoms can include skin rashes, hair loss, seizures, and developmental delays. The condition is usually detected in infancy through newborn screening. It is caused by mutations in the BTD gene, which affects the enzyme responsible for biotin recycling. Early detection and management are crucial to prevent complications.