A study to determine the safety, tolerability and effects of orally administered 3,5-diiodothyropropionic acid (DITPA) in patients with Allan-Herndon-Dudley-Syndrome (AHDS).

A multi-centre, open-label study to determine the safety, tolerability and pharmacodynamics of orally administered 3,5-diiodothyropropionic acid (DITPA) in patients aged 3 to 12 with Allan-Herndon-Dudley Syndrome (AHDS)

Status

Recruiting

Phases

Early Phase 1

Study type

Interventional

Source

ANZCTR

Registry ID

ACTRN12611000472976

Acronym

DITPA01-10

Enrollment

Registered

2011-05-06

Start date

2011-06-01

Completion date

Unknown

Last updated

2020-01-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

None listed

Brief summary

There is currently no approved curative therapy for infants with MCT8 deficiency. Treatment for individuals with this disease aims to provide relief for any symptoms (e.g., treatment with propylthiouracil to reduce the symptoms of peripheral hyperthyroidism) and support in the care of the patient. No treatment up to now has shown to alter the ultimate progression of neurological impairment DITPA is a thyroid hormone analogue with an MCT8 independent neuronal uptake. As a thyroid hormone receptor antagonist, DITPA is known to have distinct thryiod hormone effects on the cardiovascular system, such as an increase in left ventricular systolic performance, improvement of diastolic function, and a decrease in peripheral vascular resistance. Furthermore, DITPA is known to decrease serum lipoproteins and body weight.

Interventions

3,5-diiodothyropropionic Acid (DITPA) will be administered daily started at a dose of 1.5 mg/kg/d and increased to 4.75 mg/kg/d. The dose may be escalated from 1.5 mg/kg/d in increments of 33%, at the discretion of the treating physician. The daily dose will be divided into 3 equal portions given close to 8 hours apart. It is anticipated that DITPA therapy will be lifelong.

Study design

Allocation

Non-randomised trial

Intervention model

Single group

Primary purpose

Treatment

Masking

Open (masking not used)

Eligibility

Sex/Gender

All

Age

0 to 12 Years

Healthy volunteers

Inclusion criteria

1. Proven mutation of the SLC16A2/MCT8 gene, with a presumptive diagnosis of MCT8 Deficiency made based on elevated fT3, decrease of serum rT3 concentrations, low fT4 in the blood. 2. Medically stable according to the treating physician. 3. Informed parental consent. 4. Aged between 0 and 12 years.

Exclusion criteria

1. Other forms of hypo- or hyperthyroidism. 2. Critical clinical condition. 3. Congenital heart disease or cardiac arrhythmias.

Outcome results