Evaluate the safety and tolerability of combined oral thiamine with biotin therapy in patients with Huntington´s disease in mild to moderate stages and it is intended to evaluate the biological effect of the treatment in the central nervous system of these patients using as the main biomarker the increase in the level of thiamine monophosphate (TMP) in cerebrospinal fluid (CSF) of these patients with Huntington Disease (HD) during a follow-up period of one year.
Our main hypothesis is that combined thiamine-biotin oral therapy is a secure and well-tolerated treatment, potentially capable of modifying the disease course or avoiding the progression of symptoms in early-stages HD patients
Patients of legal age with manifest Huntington's disease with motor symptoms (chorea, dystonia or bradykinesia) and/or neuropsychiatric; and genetic confirmation of a number of repetitions of the cytosine-adenine-guanine trinucleotide (CAG triplet) in the HTT gene (coding for HTT) greater than or equal to 39
Patients should be capable of giving informed consent and attending the planned visit of the study.
Women of childbearing age should obtain a negative result in the serum or urine pregnancy test at the screening visit. They must also accept the use of appropriate contraceptive methods during the course of the clinical trial and men who have a partner of childbearing age, accept the use of contraceptive methods
Medical comorbidities considered clinically significant by the clinical judgment of the investigators.
Pregnancy or lactation
Patients with HD dependents on the basic routine daily life activities (UHDRS TFC < 7) or a severe cognitive decline.
Active psychosis at the moment of the screening evaluation.
Parallel
Moderate doses of Thiamine y Biotin
DrugThiamine 600 mg every day + Biotin 150mg every day
High doses of Thiamine y Biotin
DrugThiamine 1200 mg every day + Biotin 300mg every day
Incidence of Treatment-Emergent Adverse Events as assessed by clinical examination anamnesis and Analytical monitoring with hematological and biochemical control (hepatic and renal function)
Patient´s condition and emergence of comorbidity by clinical examination and anamnesis directed by a neurologist, by measuring of vital signs (blood pressure, heart rate,breath rate weight and height)
The evaluation of the efficacy of treatment with combined oral thiamine and biotin therapy in increasing thiamine monophosphate (TMP) levels in CSF of patients with HD
Determination and comparison of thiamine levels (free, TMP and TTP) in CSF and blood at the beginning and the end of the treatment.
Evaluate the biological effect of the combined thiamine-biotin oral therapy in the neurodegeration of HD patients
Measurement of the change in CSF NfL levels of patients with HD treated with the combined thiamine-biotin therapy
Evaluate the biological effect of the combined thiamine-biotin oral therapy in the neuroimaging progression markers in patients with HD
Measurement of the change in the volume of the caudate nucleus, white matter and cortical thickness, as well as in the combined cerebral atrophy score; comparing these values with those described in prospective registries of patients with HD.
Evaluate the effect of the combined thiamine-biotin oral therapy in the quality of life of patients with HD
Changes in the 36-Item Short Form Health Survey (SF-36) score of the quality of life. Short Form 36 Health Survey (SF-36 ) consists of 35 punctually items, divided into 8 dimensions: Physical Function, Physical Role, Emotional Role, Social Function, Mental Health, General Health, Body Pain and Vitality. It also contains an additional item that is not part of any dimension and that measures the change in health over time. The scores of the 8 dimensions of SF-36 are arranged in such a way that the higher the value recorded, the better the corresponding health status. scale (SF-36).
Evaluate the clinical effect of the combined thiamine-biotin oral therapy in the severity of motor symptoms of patients with HD
Evaluate changes in the score of the UHDRS motor scale and UHDRS- Total functional capacity.
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Fundación Pública Andaluza para la gestión de la Investigación en Sevilla
Lead sponsor
Consorcio Centro de Investigación Biomédica en Red (CIBER)
Collaborator
