Real-world tiratricol case report

12 evidence topics · 2 sources

Objective

Location and study date

Institutions

Characteristic	Value
Pediatric endocrinology	“Comenius University Medical Faculty, National Institute of Children´s diseases, Pediatric Endocrine Unit, Bratislava, Slovakia”
Pediatric neurology	“Comenius University Medical Faculty, National Institute of Children´s Diseases, Pediatric neurology, Bratislava, Slovakia”

Study design

Single-patient case report

“We report a patient, who was born from an uneventful pregnancy in the 37th week of gestation, Apgar score 8/9, eutrophic.” (opens the source at this quote in a new tab)

Eligibility criteria

Clinical course and genetic diagnosis

“Neurological follow up showed deterioration of axial muscle tone around 5 months, but till 8 months there was evident regression in psychomotor development, pronounced hypotonia.” (opens the source at this quote in a new tab)
“At 23 months NGS revealed mutation in SLC16A2 gene (c.940C T (p.Arg314Ter): Allan-Herndon-Dudley syndrome i.e. MCT8 deficiency.” (opens the source at this quote in a new tab)

Treatment

Tiratricol initiation and dose adjustment

“We started treatment with Tiratricol 350 ug daily, increasing the dose during 6 weeks to 75mg/kg daily, when the boy started to gain weight, slightly improved the axial muscle tone.” (opens the source at this quote in a new tab)
“The dose was lowered and has been kept till now with normalised fT3.” (opens the source at this quote in a new tab)

Prior levothyroxine treatment

“Endocrine assessment at 8 months was appropriate, but at 13 months showed signs of primary hypothyroidism and Thyroxin was started.” (opens the source at this quote in a new tab)
“After 5 months on medication there was no change.” (opens the source at this quote in a new tab)

Study outcomes

Rationale for using clinical response as an outcome measure

No evidence found.

Statistical analysis description

Number of participants (Planned and analyzed)

Individual participant

“We report a patient, who was born from an uneventful pregnancy in the 37th week of gestation, Apgar score 8/9, eutrophic.” (opens the source at this quote in a new tab)

Description of analysis sets

Not applicable.

Results

Participant disposition

No evidence found.

Baseline characteristics

Thyroid function before tiratricol (32 months of age)

Measure	Value
TSH	“4,52 mU/l”
Free T4	“6,61 pmol/l”
Free T3	“14,72 pmol/l”

Growth and imaging before tiratricol

“Vomiting led to elimination diet, which helped but he didn´t gain weight, while growing normally.” (opens the source at this quote in a new tab)
“At 13 months MRI: delayed white matter myelinisation.” (opens the source at this quote in a new tab)

Efficacy results

Clinical and biochemical course during treatment

“The dose was lowered and has been kept till now with normalised fT3.” (opens the source at this quote in a new tab)
“He is improving now his psychomotor development, slowly gaining weight on 5O mg/kg of Tiratricol.” (opens the source at this quote in a new tab)

Health-related quality of life and patient-reported outcomes

No evidence found.

Safety results

Events during dose escalation

“But in another 8 weeks, he started vomit, was constipated, lost weight.” (opens the source at this quote in a new tab)
“At this time TSH was supressed.” (opens the source at this quote in a new tab)

Study limitations

Summary

The evidence for this case is one participant described in a congress abstract without a comparator. The abstract gives the starting dose in micrograms per day and later doses in mg/kg per day, so the dose units cannot be confirmed from the abstract. Epileptic encephalopathy and antiepileptic treatment during follow-up limit attribution of psychomotor changes to tiratricol. The full case report could not be retrieved for this review.

Concurrent neurological treatment

“Evidence of epileptic encephalopathy on EEG and seizures led to antiepileptic treatment with good response.” (opens the source at this quote in a new tab)