X-linked adrenomyeloneuropathy
Conditions
Interventions
Case series:mTOR inhibitor
Sponsors
Beijing JingDu Children's Hospital
Eligibility
Sex/Gender
Male
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1. Male aged 0-18 years old; 2. Genetically diagnosed as a child with cerebral adrenaleukodystrophy (CCALD); 3. Evidence of active cerebral ALD: elevated blood long-chain fatty acid (VLCFA) values, and active CNS disease established by central radiographic review of brain magnetic resonance imaging (MRI) demonstrating: Loes score more than 0.5 (inclusive) on the 34-point scale, and Gadolinium enhancement on MRI of demyelinating lesions; 4. Neurologic function score(NFS) = 1; 5. Obtain written informed consent from the parent/guardian.
Exclusion criteria
Exclusion criteria: 1. Participate in clinical trials of other ALD-related drugs or treatments within 3 months prior to screening; 2. Blood routine and / or liver and kidney dysfunction; 3. Cardiac compromise as evidenced by left ventricular ejection fraction <40%; 4. Clinically significant active bacterial, viral, fungal, parasitic or prion-associated infections; 5. Any conditions that make it impossible to perform MRI studies (including allergies to anesthetics or contrast agents); 6. Any clinically significant cardiovascular or pulmonary disease, or any other disease or condition that would be contraindicated for any of the other research procedure.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Neurologic function score(NFS);MRI Loes score; | — |
Secondary
| Measure | Time frame |
|---|---|
| blood long-chain fatty acid (VLCFA) values; | — |
Countries
China
Contacts
Public ContactLiu Li-ying, Zou Li-ping
Beijing JingDu Children's Hospital
Outcome results
None listed