Clinical trial • Phase II • Endocrinology|Rare Disease

COBALAMIN for Cobalamin-related remethylation disorders|Hydroxycobalamin deficiency

Phase II trial of COBALAMIN for Cobalamin-related remethylation disorders|Hydroxycobalamin deficiency.

Overview

Trial Therapeutic Area
Endocrinology|Rare Disease
Trial Disease
Cobalamin-related remethylation disorders|Hydroxycobalamin deficiency
Trial Stage
Phase II
Drug Modality
Small molecule
Paediatric Trial
Yes

Key dates

Initial CTIS Submission Date
03-03-2025
First CTIS Authorization Date
09-06-2025

Trial design

Randomised, open-label, arm 1: hydroxocobalamin 1 mg for one year + hydroxocobalamin 25 mg for one additional year; arm 2: hydroxocobalamin 10 mg for one year + hydroxocobalamin 25 mg for one additional year-controlled Phase II trial across 4 sites in Spain.

Randomised
Yes
Open Label
Yes
Comparator
Arm 1: Hydroxocobalamin 1 mg for one year + Hydroxocobalamin 25 mg for one additional year; Arm 2: Hydroxocobalamin 10 mg for one year + Hydroxocobalamin 25 mg for one additional year
Target Sample Size
6
Trial Duration For Participant
730

Eligibility

Recruits 6 paediatric patients.

Vulnerable Population
Pediatric patients (under 2 years). Informed consent must be given in writing by the patient's legal representative or, if not available, by the patient's caregivers. Assent procedures for minors are not specified in the available criteria.

Inclusion criteria

  • {"criterion_text":"- Pediatric patients under 2 years of age."}
  • {"criterion_text":"- Patients with genetic diagnosis of any of the Cbl-RD diseases with early diagnosis who present ocular manifestations"}
  • {"criterion_text":"- Patients whose legal representative or, failing that, caregivers of the patient give written informed consent"}
  • {"criterion_text":"- Patients who, at the investigator's discretion, can complete the total follow-up of the study"}

Exclusion criteria

  • {"criterion_text":"- Premature patients born before 32 weeks of gestation"}
  • {"criterion_text":"- Patients with any other relevant pathology not associated with Cbl-RD diseases who, according to the physician's criteria, are not candidates to participate in the study."}
  • {"criterion_text":"- Patients who present any contraindication to receive treatment with hydroxycobalamin, including hypersensitivity to the active ingredient (hydroxycobalamin) or to any of its excipients, according to the specifications of its data sheet"}
  • {"criterion_text":"- Participation in another clinical trial that prevents the patient's inclusion in the study"}

Endpoints

Primary endpoints

  • {"endpoint_text":"- measurement of tHcy blood concentration at baseline and at 3-, 6-, 9-, 12-, 12-, 15-, 18- and 24-month follow-up and comparison of concentrations in both treatment arms","definition_or_measurement_approach":"Measurement of total homocysteine (tHcy) blood concentration at baseline and at specified follow-up timepoints (3, 6, 9, 12, 15, 18 and 24 months) and comparison of concentrations between the two treatment arms."}

Recruitment

Planned Sample Size
6
Recruitment Window Months
36
Consent Approach
Written informed consent is required from the patient's legal representative or, if not available, from the patient's caregivers. Subject information and informed consent forms for parents are provided (multiple versions present in the dossier). Language of available translations/documentation includes Spanish. Assent for minors is not specified.

Geography

Total Number Of Sites
4
Total Number Of Participants
6

Spain

Earliest CTIS Part Ii Submission Date
05-06-2025
Latest Decision Or Authorization Date
09-06-2025
Processing Time Days
4
Number Of Sites
4
Number Of Participants
6

Sites

Site Name
Hospital Sant Joan De Deu Barcelona
Department Name
neurologia pediatrica
Principal Investigator Name
Angels García Cazorla
Principal Investigator Email
angeles.garcia@sjd.es
Contact Person Name
Angels García Cazorla
Contact Person Email
angeles.garcia@sjd.es
Site Name
Hospital Universitario De Cruces
Department Name
neurologia pediatrica
Principal Investigator Name
Javier Adolfo de las Heras Montero
Contact Person Name
Javier Adolfo de las Heras Montero
Site Name
Hospital Universitario Marques De Valdecilla
Department Name
neurologia pediatrica
Principal Investigator Name
Domingo González-Lamuño Leguina
Principal Investigator Email
dglamuno@gmail.com
Contact Person Name
Domingo González-Lamuño Leguina
Contact Person Email
dglamuno@gmail.com
Site Name
Complexo Hospitalario Universitario De Santiago
Department Name
Unidad de Enfermedades Metabólicas Congénitas
Principal Investigator Name
Maria Luz Couce Pico
Principal Investigator Email
Maria.Luz.Couce.Pico@sergas.es
Contact Person Name
Maria Luz Couce Pico
Contact Person Email
Maria.Luz.Couce.Pico@sergas.es

Sponsor

Primary sponsor

Full Name
Fundacion Instituto De Investigacion Sanitaria De Santiago De Compostela
Organisation Type
Patient organisation/association
Country Of Registered Address
Spain

Investigational products

Investigational Product Name
COBALAMIN
Active Substance
COBALAMIN
Modality
Small molecule
Routes Of Administration
INTRAMUSCULAR INJECTION
Route
Intramuscular injection
Starting Dose
1 mg (Arm 1) and 10 mg (Arm 2)
Dose Levels
1 mg; 10 mg; 25 mg
Maximum Dose
25 mg

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