Hospital Sant Joan De Deu Barcelona
Esplugues De Llobregat, Spain
Not yet recruitingVitamin B12 deficiencyRare disease
Study of High-Dose Hydroxocobalamin for Patients with Cobalamin Deficiency
Verified siteRegistered drug
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What is this trial about?
A plain-language summary of the goals, design and what participants do
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.
The research process
The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.
Who can join the trial?
4 criteria
- 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 trial?
7 criteria
- 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.
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Verified sites
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Verified Verified Hospital Universitario Marques De Valdecilla
Santander, SpainVerified Universidade De Santiago De Compostela
Santiago De Compostela, Spain
Trial locations
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Investigated drugs
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.
What is already known about the treatment
Hydroxocobalamin – Hydroxocobalamin is administered as an injection, typically given into a muscle. It is currently being studied in clinical trials to assess its effectiveness at a new concentration for treating cobalamin-related remethylation disorders, specifically hydroxycobalamin deficiency. The main therapeutic use of hydroxocobalamin is to help reduce high levels of homocysteine in the blood, which can be harmful. At the molecular level, it works by helping the body convert homocysteine into methionine, a process that requires vitamin B12. Hydroxocobalamin is classified as a form of vitamin B12, which is essential for normal blood and nerve function.
Investigated diseases
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 detailsLast updated 2 Oct 2026
Age0-17PhasePhase IVTrial ID2024-516862-12-00Estimated enrolment6 patientsSponsorFundacion Publica Galega Instituto De Investigacion Sanitaria De Santiago De Compostela
sourced from the EU Clinical Trials Register and site verification
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