RecruitingNCT06723925
Metabolic
Biotinidase Deficiency
Also known as BTD deficiency, late-onset multiple carboxylase deficiency, biotin recycling deficiency
Biotinidase deficiency is a treatable inborn error of metabolism caused by mutations in the BTD gene, resulting in inability to recycle biotin (vitamin B7) from biotinylated enzymes. Without biotin recycling, multiple carboxylase enzymes be
ORPHA:79241 ↗Gene BTDPrevalence 1-5 per 10,000 (Orphanet)Onset Neonatal, InfantileAutosomal recessive genetic
1
studies recruiting now
as of 7 Sept 2026
8
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
9 Dec 2024
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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About Biotinidase Deficiency
Biotinidase deficiency is a treatable inborn error of metabolism caused by mutations in the BTD gene, resulting in inability to recycle biotin (vitamin B7) from biotinylated enzymes. Without biotin recycling, multiple carboxylase enzymes become inactive, causing metabolic acidosis, seizures, hearing loss, and skin rash. Because it is included in newborn screening in many countries and responds completely to pharmacological biotin supplementation, most patients identified today remain asymptomatic.
Common clinical features
SeizuresHypotoniaSkin rash and alopeciaHearing lossOptic atrophyMetabolic acidosisDevelopmental delay
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Biotinidase Deficiency. Not eligibility rules; those are set by each study.
- Biotinidase enzyme activity level classifies patients as profound (<10%) or partial (10-30%) deficiency — trials may specify activity threshold
- Biotin supplementation (5-20 mg/day) is standard and typically resolves symptoms — trials focus on optimizing dose or understanding long-term outcomes
- Newborn screening detection before symptoms gives the best prognosis — screening documentation supports natural history study eligibility
- Late-diagnosed patients with hearing loss or vision impairment may qualify for observational studies on irreversible complications
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).