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Evaluation of the Efficacy of 5-Aminolevulinic Acid in an Adult Cases of ATR-X Syndrome with Mild to Moderate Intellectual Developmental Disorder

Efficacy of 5-Aminolevulinic Acid in an Adult Cases of ATR-X Syndrome

Kato Hidekazu

Nagoya University Graduate School of Medicine

65 Tsurumai-cho, Showa-ku, Nagoya, Aichi

kato.hidekazu.a8@f.mail.nagoya-u.ac.jp

Kato Hidekazu

Nagoya University Graduate School of Medicine

65 Tsurumai-cho, Showa-ku, Nagoya, Aichi

+81-52-744-2282

kato.hidekazu.a8@f.mail.nagoya-u.ac.jp

Recruiting

Mar. 06, 2026

Interventional

single arm study

open(masking not used)

uncontrolled control

single assignment

treatment purpose

1) Meets the "Definite" category of the clinical diagnostic criteria for ATR-X syndrome, with the exception of the criterion requiring severe intellectual developmental disorder.
2) Has a hemizygous pathogenic (clinically significant) ATRX gene variant.
3) Aged 18 years or older at the time of enrollment.
4) Has family members or caregivers who provide support for activities of daily living.
5) Provides written informed consent to participate in the study. If, due to intellectual developmental disorder, the participant is unable to provide consent, written informed consent will be obtained from a legally acceptable representative acting in the participant's best interests.

1) Presence of comorbidities not directly related to ATR-X syndrome that could affect study assessments (e.g., perinatal hypoxic-ischemic encephalopathy).
2) Presence of serious systemic diseases (e.g., hematologic, renal, hepatic, cardiac diseases, or cancer).
3) History of major illness or surgery deemed likely to affect central nervous system functional assessments.
4) Visual function insufficient to perform the assessment measures.
5) Current or past history of photosensitivity or porphyria.
6) History of hypersensitivity to 5-aminolevulinic acid (5-ALA), porphyrins, or iron preparations.
7) Presence of hemochromatosis.
8) Intake of supplements containing 5-ALA as an active ingredient within 3 months prior to enrollment (i.e., within 3 months before the same calendar day).
9) Participation in another interventional clinical study or trial within 3 months prior to obtaining informed consent (i.e., within 3 months before the same calendar day).
10) Any other condition that, in the opinion of the principal investigator or subinvestigator, makes the participant unsuitable for safe participation in this study.

Male

ATR-X syndrome

Administer 5-aminolevulinic acid phosphate 200 mg once daily for 12 weeks to adult ATR-X syndrome patients with mild to moderate intellectual developmental disorder.

alpha-Thalassemia, X-linked Intellectual Developmental Disorder, ATR-X syndrome

Oral Administration, 5-Amino Levulinic Acid

C538258

D000284

Vineland-II Adaptive Behavior Scales: Adaptive Behavior Composite score at 12 weeks post-intervention.

Vineland-II Adaptive Behavior Scales: Adaptive Behavior Composite (ABC) score at 12 weeks post-completion.
Vineland-II Adaptive Behavior Scales subdomains: Communication, Daily Living Skills, Socialization, and Motor Skills.
Autism-related symptoms: Social Responsiveness Scale, Second Edition (SRS-2).
Psychotic symptoms: Brief Psychiatric Rating Scale (BPRS) [if psychotic symptoms are present].

+81-52-744-2479

Feb. 25, 2026

Yes

There is a possibility that anonymized data from individual participants will be shared with research sites conducting exploratory assessments.

none