Study of High-Dose Hydroxocobalamin for Patients with Cobalamin Deficiency

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What is this study about?

This clinical trial is focused on studying a group of conditions known as cobalamin-related remethylation disorders. These disorders are linked to a deficiency in a vitamin called hydroxycobalamin, which is a form of vitamin B12. The study will use a treatment involving high doses of hydroxycobalamin, administered as a solution for injection, to see if it can effectively lower the levels of a substance in the blood called tHcy, which stands for total homocysteine. High levels of tHcy are often found in individuals with these disorders.

The purpose of the study is to determine if high doses of hydroxycobalamin are more effective than standard doses in reducing tHcy levels. Participants in the study will receive injections of hydroxycobalamin and will have their blood tHcy levels measured at various intervals over a period of 24 months. These intervals include baseline measurements and follow-ups at 3, 6, 9, 12, 15, 18, and 24 months. The study aims to compare the effectiveness of the high-dose treatment with the standard-dose treatment.

This study is particularly focused on pediatric patients under 2 years of age who have been diagnosed with any of the cobalamin-related remethylation disorders and show early signs of the condition, such as eye problems. The study will involve regular monitoring to ensure the safety and effectiveness of the treatment over the course of the trial.

1 joining the study

Upon joining the study, the legal representative or caregiver must provide written informed consent for participation.

Eligibility is confirmed for pediatric patients under 2 years of age with a genetic diagnosis of any of the Cbl-RD diseases and early diagnosis presenting ocular manifestations.

2 initial assessment

An initial assessment is conducted to measure the baseline blood concentration of tHcy (total homocysteine).

This measurement serves as a reference point for future comparisons.

3 treatment administration

The treatment involves the administration of hydroxocobalamin through an intramuscular injection.

The study aims to determine the effect of high doses of hydroxocobalamin on decreasing the blood concentration of tHcy compared to standard doses.

4 follow-up assessments

Follow-up assessments are scheduled at 3, 6, 9, 12, 15, 18, and 24 months after the initial assessment.

During each follow-up, the blood concentration of tHcy is measured to monitor changes and compare the effectiveness of the treatment.

5 completion of study

The study is estimated to conclude by July 1, 2028.

Participants are expected to complete the total follow-up period as determined by the investigator.

Who Can Join the Study?

Pediatric patients under 2 years of age.
Patients with a genetic diagnosis of any of the Cbl-RD diseases with early diagnosis who have eye-related symptoms.
Patients whose legal representative or caregivers provide written informed consent. This means that the person responsible for the patient agrees in writing for them to participate in the study.
Patients who, according to the investigator, can complete the entire follow-up of the study. This means the patient is expected to be able to participate in all parts of the study.

Who Cannot Join the Study?

Patients with a known allergy to hydroxycobalamin cannot participate. Hydroxycobalamin is a form of vitamin B12.
Individuals who are currently pregnant or breastfeeding are not eligible.
Participants who have a history of severe heart disease are excluded. This refers to serious conditions affecting the heart.
People with severe kidney disease cannot join. This means the kidneys are not working well.
Anyone who has participated in another clinical trial within the last 30 days is not allowed to take part.
Individuals with a history of alcohol or drug abuse in the past year are excluded. This refers to the misuse of alcohol or drugs.
Patients who are unable to comply with the study procedures, which means they cannot follow the study rules or instructions, are not eligible.

Where you can join this trial?

Verified and Recommended Sites

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Verified Sites

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Other Sites

Site Name	City	Country
Hospital Sant Joan De Deu Barcelona	Esplugues De Llobregat	Spain
Hospital Universitario De Cruces	Barakaldo	Spain
Universidade De Santiago De Compostela	Santiago De Compostela	Spain
Hyduapap Uxyogaxkskhes Mghagiz Dk Vhhfijqumw	Santander	Spain

Trial status

Country	Status	Recruitment Start
Spain	Not yet recruiting	01.07.2025

Trial locations

Investigated drugs:

COBALAMIN

Hydroxocobalamin is a form of vitamin B12 used in this study to help with certain health problems related to how the body processes vitamin B12. In this trial, researchers are looking at how well high doses of hydroxocobalamin can lower the levels of a substance in the blood called tHcy, which can be harmful if it builds up too much. They are comparing the effects of high doses to the effects of the usual doses to see which works better. This study aims to find out if using more of this vitamin can help people with specific health issues related to vitamin B12. Hydroxocobalamin is often used to treat vitamin B12 deficiency and is known for its ability to stay in the body longer than other forms of vitamin B12, which might make it more effective in certain conditions.

Hydroxycobalamin deficiency – Hydroxycobalamin deficiency is a condition characterized by insufficient levels of hydroxycobalamin, a form of vitamin B12, in the body. This deficiency can lead to a range of symptoms due to its role in red blood cell formation and neurological function. As the deficiency progresses, individuals may experience fatigue, weakness, and neurological issues such as numbness or tingling in the hands and feet. Over time, the lack of hydroxycobalamin can affect the nervous system and lead to more pronounced neurological symptoms. The progression of the deficiency can also impact cognitive functions, potentially leading to memory problems or mood changes. The condition requires monitoring to prevent further complications related to vitamin B12 deficiency.

Trial ID:

2024-516862-12-00

Trial Phase:

Therapeutic use (Phase IV)

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Study of High-Dose Hydroxocobalamin for Patients with Cobalamin Deficiency

What is this study about?

Who Can Join the Study?

Who Cannot Join the Study?